In light of Rare Disease Day on February 28th and the upcoming World Lymphedema Day on March 6th, I thought it’d be the perfect time to do an overview of the rarer categorization of lymphedema: primary (also known as hereditary) lymphedema. Now, I’m not a medical professional, so this is by no means intended to be a comprehensive overview — think of it instead as a primer on primary!
Primary lymphedema is close to my heart — or, rather, my leg — as I’ve been living with primary since infancy. My parents, concerned about my “puffy foot,” took me to different specialists and doctors throughout my childhood, but no one had any answers. At least, none of the right ones: one pediatrician suggested I’d “grow out of it”; another recommended I wear an arch support. None suggested lymphedema.
These medical professionals saw the swelling and acknowledged there was something going on, but they didn’t say lymphedema — they couldn’t, because they weren’t aware of it. They didn’t know that word.
Unfortunately, that lack of awareness led to my living fourteen years without a diagnosis, and even longer without treatment. To finally receive a diagnosis and a name for my “puffy foot” was overwhelming and scary, but ultimately really empowering.
Primary lymphedema
According to the National Organization for Rare Disorders (NORD), primary (or hereditary) lymphedema is a genetic developmental disorder affecting the lymphatic system. It’s an inherited condition that’s more or less “decided” genetically before birth, although symptoms aren’t often visible until later in life.
Quick review on the lymphatic system: the lymphatic system is a circulatory network of vessels and ducts that move protein-rich lymph fluid throughout the body, filtering it through lymph nodes to remove cellular debris and toxins before returning it to the bloodstream.
Primary lymphedema occurs when there’s obstruction, malformation, or underdevelopment of the lymphatic vessels. When this happens, the lymphatic fluid doesn’t move or drain like it should; instead, it collects in the soft layers of subcutaneous tissues under the skin and causes swelling to develop.
![By OpenStax College [CC BY 3.0], via Wikimedia Commons](https://i0.wp.com/thelymphielife.com/wp-content/uploads/2016/02/2201_anatomy_of_the_lymphatic_system.jpg?resize=950%2C1006&ssl=1)
Classifications
Primary lymphedema is estimated to affect 1 in 6,000 people within the general population, and is classified by age of onset:
- Congenital hereditary lymphedema. Congenital means the swelling is present at birth if not shortly after, during early infancy. Often referred to as Milroy’s disease, congenital lymphedema is the rarest type of primary lymphedema. The exact prevalence is unknown, but approximately 200 cases have been reported in medical literature.
- Lymphedema praecox. Also known as Meige disease, lymphedema praecox develops around puberty. Accounting for approximately 80% of cases, lymphedema praecox is the most common type of primary lymphedema.
- Lymphedema tarda. If lymphedema develops after the age of 35, it’s diagnosed as lymphedema tarda.
Primary lymphedema affects females more often than males, and is most common in the legs, but it can also develop in the arms, trunk, face, or genitals. The symptoms of primary lymphedema are similar to secondary and can include feelings of tightness and discomfort in the affected area, tingling sensations, and changes in skin texture or thickness along with the requisite edema.
Preventing Infection and Managing Symptoms
Since the lymphatic system is compromised, all this protein-rich lymph fluid is stagnant, saturating the body’s tissues; this makes people with lymphedema especially prone to infections, the two most common being cellulitis (a bacterial infection of the skin and underlying tissue) and lymphangitis (an infection of the lymphatic vessels).
Know the signs of infection! If your skin is warm to the touch – if it’s red or has red “skin streaks” present – if there’s more swelling than normal – if you’re experiencing fever, chills, or headaches – get to the doctor! If left untreated, these infections can run haywire and develop serious complications, such as septicemia, skin abscesses, ulcerations, or tissue damage. Good skin care is important here, as keeping the skin moisturized makes it less likely to crack or break (which is an invitation for bacteria!).
Consistent treatment is key to preventing infection, keeping the swelling under control, and maintaining quality of life. I go more in depth on lymphedema treatment methods and therapies in a previous post, but it mostly comes down to graduated compression (either through well-fitting garments or multi-layered bandaging) and a specialized massage technique called manual lymph drainage to promote lymphatic flow. Additionally, regular exercise, a healthy diet, and good skin care are helpful habits to support lymphedema symptom management!
Genetics
The National Organization for Rare Disorders explains the genetics behind primary lymphedema as follows:
Many researchers believe that hereditary lymphedema may result from changes (mutations) in one of the different disease genes (genetic heterogeneity). Most cases of hereditary lymphedema type IA and type II are inherited as autosomal dominant traits. Genetic diseases are determined by the combination of genes for a particular trait that are on the chromosomes received from the father and the mother. Dominant genetic disorders occur when only a single copy of an abnormal gene is necessary for the appearance of the disease. The abnormal gene can be inherited from either parent, or can be the result of a new mutation (gene change) in the affected individual. The risk of passing the abnormal gene from affected parent to offspring is 50 percent for each pregnancy regardless of the sex of the resulting child.
Investigators have determined that some cases of hereditary lymphedema type IA (Milroy’s disease) occur because of mutation in the FLT4 gene which encodes of the vascular endothelial growth factor receptor 3 (VEGFR-3) gene located on the long arm (q) on chromosome 5 (5q35.3). Chromosomes, which are present in the nucleus of human cells, carry the genetic information for each individual. Human body cells normally have 46 chromosomes. Pairs of human chromosomes are numbered from 1 through 22 and the sex chromosomes are designated X and Y. Males have one X and one Y chromosome and females have two X chromosomes. Each chromosome has a short arm designated “p” and a long arm designated “q”. Chromosomes are further sub-divided into many bands that are numbered. For example, “chromosome 5q35.3” refers to band 35.3 on the long arm of chromosome 5. The numbered bands specify the location of the thousands of genes that are present on each chromosome.
Investigators have determined that some cases of hereditary lymphedema type II (Meige disease) occur because of mutations of the ‘forkhead’ family transcription factor (FOXC2) gene located on the long arm (q) of chromosome 16 (16q24.3).
If that was confusing, don’t worry — that was a ton of medical jargon! To put it simply, there’s a lot of genes involved in lymphatic development, and a mutation or change in any one of these can theoretically cause primary lymphedema. When a bunch of different genes have the potential to cause the same condition like that, it’s called genetic heterogeneity.
Primary lymphedema is an autosomal dominant disease, which means a person has a 50/50 chance of inheriting the mutated lymphedema-causing gene from a parent with primary lymphedema. The parent carrying the mutated gene may not visibly have primary lymphedema, however, as the gene has incomplete penetrance: the genetic mutation can be inherited but not expressed. In other words, it skips a generation.
The gene also has variable expression, which means it varies in the way it’s expressed from person to person. So, if your mother has primary lymphedema in her right leg and you inherit the lymphedema-causing gene, you may have it express as swelling in your left arm; or, it could be bilateral in your legs. Or, you may have it your right leg, just like mom. It — well, it varies!
The lymphatic system is incredibly complex and there’s still a lot of unknowns surrounding its development, but research into the genetic mechanisms behind primary lymphedema can provide valuable insight into the development and function of the lymphatic system itself. This sort of understanding not only benefits the development of new and improved treatments, but could also help identify the genetic risk factors that make someone susceptible to developing secondary lymphedema, too.
The Importance of “Lymphatic Self-Awareness”
I’m 26 years old now, but what happened to me is still happening to countless others living with primary lymphedema: bouncing from specialist to specialist only to be misdiagnosed and untreated; living without answers, without proper treatment, without even a name to call the disease. For us primary lymphies, this is especially urgent, as we often lack the resources and support that many secondary lymphies have access to via cancer services or dedicated research studies (and even those are sometimes not enough!).
One way to combat this lack of awareness is for us as patients to become knowledgeable about lymphedema itself. Knowledge is power after all, and our “lymphatic self-awareness” can help inspire us to take action, be it on a personal level by becoming more consistent with our treatment or asking our doctors more questions; or on a larger scale by starting more conversations about lymphedema, or actively advocating on behalf of improved treatment and funding for lymphatic research.
I feel like I say this in practically every post, but: we are our own best advocates. It starts with us, so we’re doing ourselves and our global lymphedema community a service when we’re well-informed ambassadors of lymphedema!
I am a primary lymphedema patient! Praecox would describe my condition. The swelling started in my right ankle around age 17 and I didn’t get an official diagnosis until I was 25. Lots of doctors just looking at me stumped for many years. Now my left leg is also affected but both are fairly mild. I wear flat knit stockings and have a pump I use sometimes. I really miss fitting into shoes easily and wearing shorts with no cares in the world. It is interesting to see all the new treatments coming out. I am curious if I will someday get surgery. I am 41 now. Thanks for all the interesting information on your blog!
Hi, Jackie,
Primary lymphies unite! ;)
I agree: I miss wearing certain shoes a lot, too, and shorts/skirts/dresses (especially in springtime)! Whenever I get really down about clothes, though, my sister always says, “It’s not that you CAN’T wear those things – it’s that you WON’T.” And she’s right, at least in the sense of clothing (because let’s face, some shoes aren’t physically possible or comfortable to wear): we can still wear shorts! Pushing past our comfort zone and insecurities are another story but it’s possible, we can do it. Life’s too short not to try! If I’m not feeling really confident to wear shorts in public, I’ll wear them around my apartment instead. Sometimes that can be enough to give yourself that boost to say, “Hey, yeah, I can still do this!”
It’s REALLY cool seeing all the treatments and research going on!! And it seems like a lot of people are getting surgical treatments with positive results, too. Lots of incredible stuff happening!
Thanks for commenting and reading the blog!
Be well,
Alexa
I am in a clinical study to see if a medication, Ubetimex, will work to treat Lymphedema. It’s exciting to be a part of the research. I don’t really know if I am taking the drug or placebo. My results, so far, is that my feet don’t swell quite as bad. I have also been bloated for 4 months, which is uncomfortable. Since my swelling is mild, the doctor said my results may be more subtle. Others have their leg(s) measurements decrease by a few centimeters.
I have had imaging texts-LSG and ICG. The ICG showed that a lymph node transfer would not work. I don’t have working superficial vessels in my feet. Also, because I have had Lymphedema for about 20 years, I am not a good candidate.
Hi! I think my condition is similar to yours. I wasn’t aware of any drugs being trialed so I’d love to hear of any outcomes!
Thanks,
Matt
It’s a stage 2 study now. If this is successful, Eiger will next have a stage 3 study with more participants. This could take a couple years.
Any update on the study, I’m very interested in hearing your results.
Eiger, the drug company researching Ubetimex has determined that Ubetimex works no better than the placebo. They haven’t even gone through all the data. Dr Rockson will be the one in charge of analyzing data, after he gets funding. It could be several years before he gets to it.
The drug (or placebo) worked for me. My lymphatic system improved significantly and my measurements were decreased. I was bloated the whole time I was on the drug. Even being this uncomfortable, I wanted to be on this drug for the rest of my life. The drug works and is safe. I do not expect this drug to make it to the marketplace in my lifetime, without pressure from people who have lymphedema.
Hello Alexa,
Really great to know about your site, history and willingness to share your experience.I’m told that I have primary, but am unaware of any family with the condition. It presented six years ago and I am 65.Perhaps I am the oldest ever. Who knows? I haven’t had injuries or surgery. About a year ago I went to see Stanley Rockson at Stanford to have him determine if I would be a good candidate for a study he is doing. He said I would be but questioned my response about not having had injury to my right leg that perhaps I was not recalling.That might have qualified me for the study—if it were true. So far I use a compression sock and try to massage the leg. It does feel fuller and tighter as time goes on. I am interested in participating in trials that do not seem too dangerous and search the web for information.
Best,
Donna
Hi, Donna,
Thank you for reading the site and for commenting!
Hmmm… it sounds like you might have lymphedema tarda, especially if it didn’t present until your late 50s/early 60s. Despite not being aware of any family with lymphedema, there still might be someone in your lineage who has it and the gene “skipped” a generation by being inherited but not expressed — or, they may have visibly had it, but with no diagnosis or “word” for it, it was brushed off as Aunt So-and-So having “heavy legs.” It gets to be so complicated to trace our lymphedema’s origins when the disease itself lacks a formal medical history! (Hopefully that’s changing, with new research and awareness within the mainstream medical communities.)
Using compression and massage is a good way to go! Do you see a lymphedema therapist or doctor, or able to find one near you? If your leg is feeling fuller and tighter, you may need to re-asses your treatment plan — whether it’s the class of compression, the type of garment, getting a pump, or anything else a professional may see as appropriate for your needs. Sometimes we need to tune-up or re-strategize our treatment plans as our swelling changes!
Wishing you all the best!
Be well,
Alexa
Thanks so much for responding, Alex. Yes, I am seeing a PT tomorrow for a different type of garment and additional advice. I am going to seek more comprehensive massage treatment that is outside of Kaiser to see if it helps. I appreciate the help and encouragement you are providing your readers. It is a blessing to have a site to go to for current information.
Cheers!
Donna
Hi there, have just been diagnosed at 59. Thought I had escaped it. My poor mum is 86 and has had a nightmare with her legs from her 30’s 😥 . Have no idea what I am going to do yet but losing weight seems to be a good start. My sympathies go out to everyone who has had to live their lives around this
I have primary in both legs and feet. Started getting bad swelling mid teens and had horrendous legs on planes and holidays. Hospital tested me for dvt unsuccessfully before being diagnosed after repeated visits to doctors . Aged 34. Struggled to accept the compression and summer is a pain but it could be worse xxx stay positive .
Hi, Helen,
I’m sorry it took so long for you to get a proper diagnosis :( It seems that’s the case for a lot of us, especially those of us living with primary.
Being compliant with compression was a huuuuge struggle for me, too: I simply didn’t want to wear it. It was uncomfortable and bulky, and I was embarrassed. But… my reluctance to wear it caused me to suffer, because my leg would become more swollen or painful. Finally I realized, “Why let fear of other people’s opinions keep me from taking care of my health?” That was a turning point for me, and now I wear my compression almost every day. I still worry sometimes about what people think when they see it, but my swelling is much more under control, and that’s waay way more important!
Summertime is a total pain, no getting around that one haha! Linen pants, maxi dresses, palazzos… those are my go-tos in hot weather. Otherwise: stay in the shade or in air conditioning!
Love that you’ve got a positive attitude, and I hope you’re able to go on holidays more comfortably now that you’ve got compression! Wishing you all the best!
Be well,
Alexa
OMG! What a frustrating experience! I appreciate your explanation of primary lymphedema…. excellent information for our support group. There is power in knowledge! Love the photos of you as a young child…..soooo cute!
Hi, Julia,
I’m so glad you’re able to use this in your group! There’s SO much power in knowledge, especially for patients!!
And thank you — I’ll have to tell my mom you said so, as she did all my styling back in the day ;) hehe
My lymphy leg started in my teens. It took until i was 21 to get a diagnosis. I was told that only treatment was surgery. A ‘ charles procedure’. So i went for it. I was in hospital for 6 months solid and almost lost my leg on 2:3 occasions. I had to had 3 skin graft ops and my leg looks like its been burned from my toes right up to top of my thigh. It failed .
Now not only does it still swell, ache and keep me awake for hours it also feels like my skin is going to rip. Half of my leg is scar tissue which does not stretch for the swelling. Ruined my whole life.
My daughter has just hit 13 and i am waiting and deeading thise words. One thing is definate , she will NOT be having surgery.
Hi, Karen,
Oh my God! That sounds incredibly traumatic — I’m so sorry you went through that, and that you’re STILL coping with the consequences. I don’t blame you for wanting to prevent your daughter from going through the same.
I’m not sure what else to say except that I hope you’re able to find some relief for your pain. It sounds truly horrible, and is yet another testimonial as to why research is so crucial: to prevent people’s lives from being irrevocably changed like yours has by these types of procedures and uninformed treatments.
Wishing you peace and health,
Alexa
I’m 79 and my left leg below the knee, mostly my ankle and foot, have been swelling for most of my life, usually more toward the end of the day. Lately it’s more pronounced and includes my right leg. My mother had it all her adult life (maybe sooner, I don’t know) and it became extremely obvious and uncomfortable as she aged. My podiatrist diagnosed it as lymphedema and recommended compression hose,walking, keeping hydrated, applying lotion to the skin and elevating my feet when seated, all of which I do. My primary doc pooh-poohs it and says it’s edema, not lymphedema. I don’t know that I need to get a definitive diagnosis as long as I can keep it under control. Is there anything more I need to be aware of?
Hi, Samantha,
That must be so frustrating to get conflicting opinions on a diagnosis, but it sounds like you’re taking initiative and being proactive about your health, and that’s great! I think everything you’re doing is pretty spot-on as far as management goes, especially if it’s keeping the swelling under control. The only other thing I can think of to address is nutrition: avoiding sodium, maintaining a healthy diet – there’s a great nutrition guide by LymphNotes that I’ve found to be a really helpful resource.
Like you said, whether it’s lymphedema or edema is kind of irrelevant if you’re practicing healthy habits and managing symptoms. Keep communication open with your doctor (despite their pooh-poohs!) just in case there’s any complications, pain, or flare-ups, but otherwise you seem to have a good routine going! :)
Be well and Stay Elevated,
Alexa
Thank you, Alexa. That really helps!
Hi Samantha, l am 52 and recently diagnosed with primary lymphedema although had bilateral swelling on my anckles and legs for years. None of the tests showed any other reason until one day learned that my grandmother ( who had died when l was very young) had very badly swolen legs. My internet research led me to primary lymphedema and lymphoscintigraphy as diagnostic method. So l went to my doctor and said that my grandmother had primary lymphoedema and l want to be tested. By then my right leg started to show signs of infection. Lymphoscintigraphy which takes few hours to test, confirmed my diagnosis of primary lymphedema. This was important for me as l know what is my problem exactly without jumping from one opinion to other. As your mother also had same problem and most likely nobody knew the name of her exact problem, you could be having primary lymphedema but if you want to be sure you can insist to have lymphoscintigraphy.
Thanks, Daniella. Can you tell me what medical specialty does lymphoscintigraphy? I don’t know what kind of a specialist to consult, and my primary doc doesn’t seem to know about this.
A radiology department will do this at any hospital
Hi Alexa, I didn’t know you had a twin – did that make it harder for you to accept the lumpjedema? (That of course is a typo but I kind of like it!) BTW I’d like to reshare the blog post we did together for Lymphedema Day tomorrow – I assume that’s okay? Thanks!
Lumpjedema!! I kind of love that. And yes — I have a twin! We’re fraternal though, so we don’t look too much alike as is… if we were identical except for the lymphedema, it would have probably been a lot more difficult to accept. She’s my best friend and such a huge source of support for me, although I do envy her shoe collection: my lymphie foot can’t fit in her chic shoes!
You are more than welcome to share that post! I love that post, it was so fascinating hearing your story! Anything on the site you want to share, feel free.
Hope you’re well and Happy Lumpjedema Day! :-p
-Alexa
Hi
My daughter Alice was born with her left leg slightly bigger than the other. At the time it was explained to us by doctors as ‘ excellerated cell growth’ and was compared to how some people have one foot slightly bigger than the other. For 15 years her leg didn’t change size then after a game of basketball Alice’s ankle became swollen. We assumed she had injured herself in the game but when the swelling got worse and her whole leg became swollen we took her to the doctors. X-rays and ultrasounds were taken but doctors could not explain the swelling. Eventually my husband and I took Alice to the emergency department of Princess Margret Hospital. She was admitted and spent a week in hospital where further tests were conducted and various specialists examined her. Eventually she was diagnosed with primary Lymphoedema by a vascular surgeon . We were told where we could purchase compression stockings and that was it.
It has been up to us to educate ourselves about the condition and treatment options ( or lack of them) Alice is now 19 and has learnt to be disciplined in managing her condition. She wears compression leg, toe and ankle pieces and spends at least 4 hours a day on her pump. She keeps fit and maintains healthy weight. A big learning curve for a teenager.
Hi, Jennifer,
Wow — that’s incredible what you and Alice went through to get a diagnosis. Bless her for being so disciplined in her care!! I really commend her for adapting to a treatment routine at such a young age… I know how difficult that can be, especially when your peers get to “be teenagers” without the constraints and responsibilities of daily treatments or compression. You’re absolutely right in acknowledging how big a learning curve that can be.
It often seems like the burden of education and care falls on those affected (and their loved ones) — not to mention the burden of receiving an accurate diagnosis. It’s a lot to handle at any age, but it sounds like Alice is doing an awesome job taking care of her health, especially with such a supportive family behind her. Wishing you all the best!
Be well,
Alexa
Hi Alexa
It was good to read your blog. My grandma had “big legs”. My lymphoedema became apparent when I was around 19. Both legs but worse in my left one. I am now 65. Over the years no one was able to give me a diagnosis. I was given diuretics in the 1980’s which didn’t really improve things and eventually made my blood clot so I was taken off those with no further advice other than to never take them again.
It’s taken all this time, self management, internet resources and persistence to get noticed. I found a GP at my surgery last year who took an interest and with her support I now have a regular prescription of lotion and have seen a lymphoedema nurse who fitted me for compression tights. I need to get better at wearing these! Both my daughters have inherited my faulty gene, one to a lesser extent than the other and in the opposite foot and leg to mine. I consider myself to be lucky. I can exercise and my husband and I dance. Now I am older, I am less conscious of my “big” leg but I am still keen to find out more information and learn from others. Thank you.
Melanie
Hi, Melanie,
I’m so sorry to hear what you went through before getting a proper diagnosis — it’s so upsetting (and frustrating!) to go for so long without the recognition and treatment you need. I’m glad to hear you’ve finally found a GP!! That’s awesome. It sounds like you’ve got such a beautiful attitude around your lymphedema, which is great not only for your own well-being but as an example for your daughters, too. :)
I love that you and your husband dance! What fun! If we keep our swelling managed by staying compliant with treatment, then there’s no reason for lymphedema to keep us from living as full and active lives as we can. If you’re keen to learn more and connect with others, there a number of private support groups on Facebook that are great for meeting other lymphies for advice or simply to chat — you should check them out! If you’re interested, I can forward you a couple links.
Wishing you and your family all the best,
Alexa
Alexa, this is a great post, and I love your blog – so many helpful resources! I was diagnosed three months ago, and have been hungrily searching for information since, and I’ve been encouraged and comforted by the great community of people like me. These comments are a great example. I hope you don’t mind – I linked to this page from my latest blog post on World Lymphedema Day.
Hi, Genevieve,
Thanks so much for the kind words! I’m glad you found the site helpful, and yes: the online lymphedema community is amazinggg and such a great resource in itself!! Navigating the lymphedema world can be intimidating and a little scary, but as you’ve already begun to find, you’re definitely not alone in this! If you’re on Facebook, there are a number of really great private groups for people with lymphedema to connect and share advice and support. There’s a big lymphie presence on Instagram and Twitter, too… we’re all over the place!
If you’re interested in the Facebook groups, let me know and I’ll forward you some links.
Be well,
Alexa
PS Feel free to share whatever links you’d like from this site! :)
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Thanks for the excellent explanation. I am a Milroys lymphedemic(not sure that is a thing) just like my Mom, Grandfather, Son and Niece. I have tried to never let it keep me from being active. My two lymphie legs have played soccer, snowboard, ran two sprint triathlons, and spend much time camping and hiking.
I have avoided constant compression but due to recent injury (15 stitches in a lymphie leg) I now know how important it is. I hope my Son catches on to that earlier than I did.
Thank you, Doug
Hi, Doug,
Wow — that’s so fantastic! You’re a living testament to the fact that, yes — “lymphedemics” can and do live full, active lives while still maintaining their swelling. What a great example for your son, too. Totally awesome :)
There’s a community of active lymphedema folks online; I’m not sure if you’re in any of the groups on Facebook but there’s one called ‘The Lymphedema Running & Fitness Club’ that may be of interest to you, with like-minded athletic lymphies to connect with for support and advice: https://www.facebook.com/groups/591892227643303/
Hope you and your family are well, and thanks for sharing your story!
Alexa
I am so grateful for this blog! My name is Kalene and I was diagnosed with primary lymphedema two weeks ago, I am 33. For two years I lugged around an “elephant foot”, not knowing what caused it. I had never had surgery or major injury. For two years I wore pants, I was embarrassed at the appearance of my leg. When people would ask, I would tell them I twisted my ankle, it was easier than saying I have no idea why my leg looks like a tree stump. My kids used to joke about me being the only person in the world who actually has a right and left sock, my right leg being the affected one, thus making my right socks more stretched than the left ones! It wasn’t until I got tired of my socks cutting into my ankle that I finally advocated for myself. Today, I wore shorts outside of my home for the first time in these past two years and it feels WONDERFUL! One unexpected downside was a severe amount of muscle atrophy in my right calf, it’s only half the size of my left one. I cannot wait to read more of this blog and actually have contact with others who share this disorder.
Hi, Kalene,
I’m so glad you’ve found the blog!! Welcome :) and congratulations on receiving your diagnosis. I know: it sounds odd to say “congrats,” but I feel like finally having a name for the condition (and proper treatment!) can be somewhat empowering. Plus, now you have an answer to give people other than saying you have a ‘twisted ankle’!
Another great thing about getting a diagnosis is getting a community. The lymphedema community is really amazing and supportive! Are you on Facebook? Have you checked out some of the private Facebook groups for lymphedema support? They’re a great way to connect with others from around the world who are also living with lymphedema. Definitely worth joining if you haven’t already!
Be well, and thank you for sharing part of your story!
Alexa
PS Huge congrats on wearing a pair of shorts outdoors!! I know what a big deal that can be. Here’s to many more milestones in your journey!
PPS Xpandasox are a great option for lymphie legs, and can be worn comfortably over bandages or compression garments! Check out my review of them here: https://thelymphielife.com/2016/03/23/product-review-style-meets-comfort-with-xpandasox/
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I’m so thankful that I found this post. I am 25 years old and have had lymphedema in my left foot my whole life. I was never diagnosed until I was about 10 and then started to receive some massage therapy. To this day doctors don’t really know what to do with me or how to treat it. I continue to push to get treatment and to help people understand the disease. Thank you for your blog!
I’ve had primary lymphedema in both legs since birth. Your blog is fantastic!
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Hi
I’m 66 and have had primary lymphadema since birth. In my case it effects me entire right. Side of my body. As a child no one ever knew what I had and my parents took me to many doctors to determine the cause etc. I eventually was told about compression garments and got a Wright Linear Pump when I saw an article in the paper that showed a little girl who looked just like me and her grandfather has invented a pump to help her. I’ve never known any other persons with a similar diagnosis so I’m glad to find this blog.
I am 69 yo and have Meige’s disease, inherited from my father. I swim daily. I also take penicillin prophylactically and have not had cellulitis since it was started 25 years ago.
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My 13 year old daughter was just diagnosed with Lymphedema. We did get a quick diagnosis with I’m happy about, but the doc didn’t really explain the future to me. He didn’t stress the importation vilgilance with compression, or suggest massage etc. He just said wear a compression stocking and take Advil as needed. I came home and began reading stories of long term prognosis and went to bed weeping and scared for my daughter’s future. I’m so glad to find this blog. The comments from all of you help me be less frightened. We saw a general surgeon who gave us the diagnosis. I have found a massage therapist who specializes in lymphatic drainage massage. Do any of you suggest finding a doctor that specializes in lymphadema? Will we get a better plan? Also, did all of you experience significant leg size progression? Right now hers is very mild in her food and ankle. Should we expect that it will travel further up her leg? I’m sorry I have so many questions. I’m trying not to panic because I do t want my daughter to see or feel that, but I feel very panicked on the inside. Thanks for any info you can share.
Hi Mendi – It’s great you caught it early – she should be able to manage it so it doesn’t get much worse (although there are always challenges) and she’ll be able live a relatively normal life. If you can find a doctor familiar with Lymphedema, that would be great. You should definitely find a Certified Lymphedema Therapist (CLT, occupational therapist) and may require a referral to one from your primary care provider for insurance purposes. The CLT can design a plan and help proper compression. Also, there are some great Facebook groups she can join for support/advice.
My heart goes out to you not knowing what your daughter might endure over time. From my experience the past seven years starting at age 58, with no preceding event, my leg has increased in size, but the importance of compression garments is essential to control it. Do find a doctor with at least a special interest in the condition who is following developments in the field. I am in the Stanford drug study. Improvements will come.
All the best.
Donna
I apologize for all of the misspelling and such in my post above. I am typing on my phone.
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My 10 year old daughter, who is adopted from China, has had lymphedema since birth in all four of her extremities. It was a definitely a challenge to get her diagnosed and find her good care. Thank you for this excellent article and for sharing your story.
Hi Alexa,
Really good to read this. My own experience is similar but I’ve never but someone else with the same condition before.
I am 28 and have lymphedema in my right foot. The symptoms first presented when I was around 20-21 and it took two years to get diagnosed correctly. I was very active at the time and doctors kept telling me it was a stress fracture. This never made any sense because there was no real pain and the swelling was so general from my ankle down.
I’ve always found the genetic description interesting because I have been unable to find any record of it in my family. Also, my symptoms only appeared several years after puberty and the onset was very rapid. It seems from some of the comments that this might not be so abnormal!
I’ve been managing it reasonably well but have some permanent-looking skin changes below the inside of my ankle bone, when it is hard to apply local compression. This has me quite worried about how it will look in 50 years! The other big annoyance is the cost of the garments. I am still quite active which means I go through them quite fast.
I was wondering if you’d heard of or met anyone who self-administered laser treatment? The clinical treatment I have had seems effective and I’ve read that there are hand-held lasers available. If you’d heard of any success stories (or otherwise) I’d love to hear them.
Thanks again for sharing.
Matt
I too have had Primary Lymphedema for 26 years. Mine however didn’t start until I was 14. My diagnosis happened faster than yours. However, many things have not gone smoothly. Just because the doctor recognized it, didn’t mean he understood what Lymphedema was or how to treat it. I just started my own blog and posted at my diagnosis there.
Hi. I was surprised to see that only 200 cases of Milroy’s desease have been reported since me and my brither have it. We have had CDT once. The swelling is present in both our legs and feet. My swelling is “lighter” than my brother’s, I’m not sure if this has anything to do with the fact that He is a lot bigger and taller than me. We were diagnosed at birth by our pediatrician in Bolivia. I came upon your post because lately I have noticed that my calves have become really dry and there is some scaling. I didn’t experience this before and it got me a little worried. Still, it is not too bad for me, even without therapy, just lying for several ours will get my legs up to normal….until I stay standing up, then the swelling begins. I gad it only on my feet until I got pregnant, then it went up to my knees. I am not sure if the liquid that is accumulated through pregnancy has anything to do with this. My son doesn’t have it, he got scoliosis instead, I’m guessing my family’s genetic history is kind of wacky. I will try to get treatment as soon as I gather some money, treatment is expensive. Other than the estetics fact, I think I have it pretty light. Well, that is it for me. Great to talk about something that nobody else ai know has to deal with. Regards!!!
My daughter also has a “puffy foot” starting at the age of three. She wasn’t officially diagnosed with primary lymphedema until a couple years later. But no treatment or advise was given. We had to seek it out ourselves! She is now 19 and has it in both her legs and feet. She is strong and I hope and pray for a cure one day!!
My daughter fell on skates age 4 – swelling – no one but mum could see dr. measured knee only 4cm diff but enough to look into tested for albumin which was high he said just an injuury – months later still swollen. Again dr. measures no one believes mom this is serious – it’s Just the Way She is. Finally 2 years later swelling increased up leg – knee is now 4cm diff ankle is 2 cm diff – calf is 6cm diff. foot looks like a cartoon puffy foot. Docs asked us to canvass family to see if this was hereditary – no one else has it.
Asked to find pics of babyhood and early child hood this foot has probably always been a bit swollen you only begin to notice once its injured! Finally after a hospital stay with cellulitis and a trip to a vascular surgeon and further trip across country to plastics specialist he says its primary lymphedema praecox – a diagnosis of exclusion meaning it isn’t anything else so it MUST BE THIS.
Very frustrating took 5 years total for this diagnosis.
She is age 12 now and has loads of different compression garments and overnight ones we just started pumping at the hospital and are looking into a home version. Her left leg is very big now and everyone notices now. Some have apologized to mum for not believing her, but she would rather they had been right and she had been wrong.
Its was lovely to find this blog. Thank you. – Katey in Kanada
Hi, I am 72 years old have primary lymphoma in both of my legs. I was diagnosed when I was 40 years old and got approved by ADP for a lympapress which I use 4 nights a week. I wear compression knee socks (lots of pretty ones out there). It is very important to keep fit, watch your weight, drink lost of water during the day. Limit your salt intake and MSG. Be very careful not to get scratches and cuts in your legs . At my age I avoid sun and wear lots of sunscreen and most of time keep my legs covered. I also use diuretics on a daily basis. I have learned over the years there is not much you can do if you have primary lymphodema but you can manage it and just enjoy your life.
Marianne, Canada
Hi Alexa,
I have Primary Lymphedema (Bilateral and now also in my Groin and Abdomen) which was diagnosed at age 46 with a Lymphoscintigraphy. I also saw Dr Hiroo Suami at Macquarie University Primary Hospital in Australia and had an ICG to see if I was eligible for lymph node transfer. Bottom line was no as there weren’t clear vessels to attach to.
I have been keeping a close eye on the trials for Lymfactin in Finland. This is a gene therapy that is injected to stimulate your body to grow it’s own missing vessels. The trial is for straight ahead Secondary Lymphedema patients at the moment with positive results. The concept could be used potentially for Primary patients.
Fingers and swollen toes crossed for this!
Are you aware of this?
I would love for more information regarding primary lymphedema. Mine appeared in my right leg at age 42. I’ve had two lymphoscintigraphies in the last 5 years, but the most helpful scan was the ICG scan I recently had at Cleveland Clinic where I learned that my lymphatic system is also sluggish in my left leg and my left arm.
This was eye-opening as certified MLD therapists had been pushing the fluid from my right leg towards my left side for uptake. This is probably a good practice for those with secondary lymphedema but no so great for me where my right arm is the most normal of all my limbs.
Is there an organization that specifically address the needs of those with primary lymphedema? I have heard that the numbers of people with primary lymphedema is low, so I understand why we have to be put in the same category as those with secondary, but I wonder if our particular needs get lost in the mix.
Hi! I am 65 years old and have primary Lymphedema Tarda in both lower extremities and this is my story. I started becoming symptomatic in my early 50’s but since I was a Registered nurse working very long hours on my feet every day thought that was what was causing my legs and feet to swell. My. Doctors put me on blood pressure meds and sent me to a Cardiologist to be worked up. Nothing ever came of that. I would elevate my feet at night upon going home and it would initially work fairly well to reduce the swelling back down. As time went on though the swelling got greater and the night time elevations helped less and less. It got to a point where I looked at my legs in the mirror one time and though to myself, “Wow, my legs are starting to look like THOSE PEOPLE with Lymphedema.” (Still not thinking that I actually could have such a disorder!!! And here I was a nurse!! (A nurse in denial) But I was always healthy as a horse and one of the most physically active people that you would ever know! I gradually went from wearing a womens size regular 7 shoe…which I wore my entire adult life up til then, to wearing a size 10 1/2 to 11 Extra wide shoe. Sometimes even those would be tight and I would resort to buying a pair of mens tennis shoes because I could not find anything in the womens shoe department that I could fit into. Again as time went on I eventually developed cellulitis. My legs were so swollen that the skin was shiny and tight, It was red in color and hot to the touch. Then the skin split and fluid would run down my legs in a stream. Ohhh that was painful. I had an ulcerated area on each leg. Again I dismissed it to being on my feet for hours at a time. There were many times I worked 18 to 20 hour days covering multiple areas of the hospital due to staffing shortages. I hid my pain and I kept on going. On the way home at night as I drove the hour long drive is when I would cry alone in my car in pain where nobody could see me. I hid my swollen legs under scrub clothing so nobody could see them. Out of sight out of mind. But not out of pain. My little secret. I finally couldn’t take the pain and knew I needed antibiotics for the ulcers so I took myself to the ER. I was treated for the Cellulitis and that was eventually resolved. But still never was given a diagnosis for Lymphedema until several months later being sent to a vascular surgeon to rule out venous insufficiency. (Which I did have as well by the way) The end result to my ordeal unfortunately was being put on disability. My doctor told me I could no longer do the job I was doing as a nurse. (One of the worst days of my life) I was initially in denial and continued to work (I mean me? Disabled? Never!) But it didn’t go away and the ulcerations eventually returned so I had to finally accept my fate. It was never going to “get better” as in “go away” and I needed to do whatever I could do to keep the disease in check and slow the progression. Since this is a hereditary disease/disorder though I was puzzled as to where in my family line it came from. Nobody I knew on either side had a diagnosis of Lymphedema. BUT I can remember as a child my nanny (maternal great grandma) had swollen legs which required dressing changes for ulcerations. Everyone back in those days though attributed it to “old age.” I really believe she must have had it but it was never diagnosed as such. And now more recently my aunt (sister of my mom) again on the maternal side has been diagnosed with bilateral lower leg Lymphedema like myself! The puzzle has been solved! We now know the family line from which it comes. She also agrees with my thoughts on nanny. She even said to me on the phone: “I was going to tell you my legs look just like nanny’s did!” Lol.
So now I wear Velcro compression wraps on some days when I will be on my feet for any length of time. And I elevate, elevate, elevate. I still really miss working though. (A lot!!) I LOVED being a nurse. I also miss my paycheck. (A lot!!)
But I t is what it is! 🥹