Tips & Tricks

A Primer on Primary Lymphedema

Knowing the genetic mechanisms behind primary lymphedema is important, not just for the development of new and improved treatments but also to provide valuable insight into the lymphatic system itself.

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
Diagram courtesy OpenStax College [CC BY 3.0], via Wikimedia Commons

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!

Any other primary lymphies out there? I’d love to hear your experiences in receiving diagnosis and treatment in the comments!

28 comments on “A Primer on Primary Lymphedema

  1. 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

  2. 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

  3. 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

  4. Julia Guerra

    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

  5. 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

  6. 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

  7. 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

  8. Jennifer Mulder

    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

  9. 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

  10. 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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  13. 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

  14. Kalene Orazio-Gauthier

    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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