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What You Need to Know About Ehler’s-Danlos

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Ehler's Danlos syndrome symptoms

Extreme flexibility and hyper-mobile joints. Thin fragile skin that bruises easily. Digestive problems like constipation and heartburn.

While these unpleasant symptoms might seem unrelated, they all have something in common – they can all be caused by a disorder known as Ehler’s-Danlos Syndrome. And recent research is uncovering just how this perplexing disorder can cause another troublesome side effect – the unusual accumulation of fat known as lipedema. 

Today we’re going to explore exactly what Ehler’s-Danlos Syndrome is and the science behind how it’s associated with the distressing and persistent symptoms seen in lipedema. Let’s dive in.

What Are the Ehler’s-Danlos Syndromes?

Ehler’s-Danlos Syndrome isn’t a singular diagnosis in itself. Rather Ehler’s-Danlos Syndrome is a blanket statement diagnosis that encompasses a specific group of disorders that affect your connective tissues. 

In fact, there,are officially 13 different subtypes and variations of Ehler’s-Danlos Syndrome disorders that include:1

  1. Classical EDS (cEDS)
  2. Classical-like EDS (clEDS)
  3. Cardiac-valvular EDS (cvEDS)
  4. Vascular EDS (vEDS)
  5. Hypermobile EDS
  6. Arthrochalasia EDS (aEDS)
  7. Dermatosparaxis EDS (dEDS)
  8. Kyphoscoliotic EDS (kEDS)
  9. Brittle Cornea Syndrome (BCS)
  10. Spondylodysplastic EDS (spEDS)
  11. Musculocontractural EDS (mcEDS)
  12. Myopathic EDS (mEDS)
  13. Periodontal EDS (pEDS)

While each of these subtypes has distinct characteristics, there is a significant amount of overlap amongst all of the Ehler’s-Danlos Syndromes. All of these subtypes share a common underlying issue – a defect in the synthesis and structure of collagen and connective tissues.

So, What Causes Ehler’s-Danlos Syndrome?

Ehler’s-Danlos Syndrome is caused by a mutation in a part of your genetic code that contains the “instruction manual” that your body follows for how to produce and assemble collagen. There can be a number of different mutations or “typos” in this genetic instruction manual that can interrupt the normal synthesis and/or formation of collagen – leading to either weak collagen or insufficient amounts of collagen.2

And insufficient or weak collagen can have serious consequences. That’s because collagen is a complex protein that’s found in nearly every tissue in your body – from your skin and digestive tract to your blood vessels and joints. Think of collagen as the “glue” that holds your body together – providing the strength, structure, and elasticity to keep your body held together.3 

So let’s take a look at some of the symptoms caused by problems with this “glue” that’s supposed to hold everything in place.

What Are the Specific Symptoms of Ehler’s-Danlos Syndrome?

There’s quite a bit of variation in exactly how Ehler’s-Danlos Syndromes presents depending on exactly how your collagen is altered. Ehler’s-Danlos Syndromes are complicated and affect your entire body, but typically effects are seen in one or more body systems, including:4,5

  • Your joints: Hypermobility/hyperflexibility, or loose joints that have an unusually large range of motion and can be prone to dislocation. This can also lead to an early onset of osteoarthritis.
  • Your bones: This often presents as scoliosis from birth and/or early onset of bone loss and osteoporosis.
  • Your skin: Fragile skin that has a velvety texture and bruises easily. Skin also tends to stretch more easily, heal wounds slowly, and develop scars that have a characteristic “cigarette paper” appearance.
  • Your digestive tract: The way your gut is “held together” can be impaired, resulting in complications like Hiatal hernias, prolapses, rectoceles, and visceroptosis. It can also impede normal and healthy gut motility.
  • Your cardiovascular system: Fragile blood vessels that are more prone to rupturing and heart valves that are more likely to prolapse.

But these aren’t the only tissues that can be impacted by Ehler’s-Danlos Syndrome. Another lesser-known side effect that’s potentially linked to Ehler’s-Danlos Syndrome is garnering attention – a condition known as lipedema.

What Exactly is Lipedema?

Lipedema is a condition characterized by the unusual accumulation of fatty tissue in the limbs – particularly in the legs. Unlike simply packing on a few pounds, this buildup of fat is exclusive to the limbs and is resistant to reduction – meaning it stays put and persists even if you lose weight overall. Lipedema is seen almost exclusively in women – with some studies finding that this progressive and often distressing disorder affects up to 11% of women after puberty.6

In the past lipedema symptoms have been notoriously underdiagnosed – often being mislabeled as obesity or lymphedema. This puzzling condition has left many doctors and researchers scratching their heads – chalking the unusual accumulation of fat up to hormonal issues or autoimmune factors. 

But there is mounting evidence that lipedema may in fact be associated with a connective tissue disorder such as Ehler’s-Danlos Syndrome.

Lipedema: It’s Link to Ehler’s-Danlos Syndrome

So how exactly can a connective tissue disorder like Ehler’s-Danlos Syndrome be associated with lipedema? Let’s break down how the two conditions might be associated.7,8,9

  • Subcutaneous adipose tissue (the kind of fat that accumulates beneath your skin) is actually a type of connective tissue. So when you have a defect in the way this connective tissue functions, it can lose its elastic recoil.
  • This loss of elasticity can allows fluid to collect within the fatty tissue rather than draining and exiting via your lymphatic system. 
  • Poor lymph and blood flow to these tissues can then results in the accumulation of fluid, cellular wastes, proteins, and other metabolic products in the extracellular matrix that surrounds your fat cells. 
  • This can creates a toxic and distressing environment for these cells, so they send out signals to recruit more immune cells to come to their aid. 
  • This can then creates a vicious cycle of sustained inflammation and degradation of your subcutaneous tissue. 
  • Over time your connective fatty tissues can essentially be remodeled and replaced by fibrous scar tissue in a process known as fibrosis.

It’s speculated that this permanent scar tissue within the fat cells in your limbs is what can make lipedema so problematic. This scar tissue can continues to build and is nearly impossible to get rid of through typical weight loss methods.

This permanent scar tissue within the fat cells in your limbs is what makes lipedema so problematic. This scar tissue continues to build and is nearly impossible to get rid of through typical weight loss methods.

So, if My Lipedema May be Linked to Ehler’s-Danlos Syndrome, What Are My Treatment Options?

While both Lipedema and Ehler’s-Danlos Syndrome don’t necessarily have a cure, the good news is, there are some steps you can take to manage them and improve your symptoms. Before we dive into some practical steps you can take to help you manage Ehler’s-Danlos Syndrome and lipedema, I want to stress the importance of working with a specialist. 

Because Ehler’s-Danlos Syndrome symptoms can vary widely and affect a number of different body systems, I highly encourage you to seek out the guidance of an experienced Integrative and Functional Medicine Doctor. They will work with you to ensure an accurate diagnosis and help you come up with a comprehensive plan to address any symptoms you’re experiencing.

Now let’s get into some steps you can start taking right away.

Steps to Manage Ehler’s-Danlos Syndrome and Lipedema

The following simple lifestyle tweaks can be a huge help when it comes to managing lipedema and Ehler’s-Danlos Syndrome:10

  • Eat a healthy well-rounded diet: Since inflammation is a component that contributes to lipedema, it’s important to eat a healthy diet that focuses on anti-inflammatory foods. Focus on incorporating a variety of fruits and veggies, high-quality protein, and healthy fats. What’s even better, is when you build most of your meals around real, whole foods, oftentimes you’ll naturally and almost effortlessly lose weight – which can also be helpful in the management of lipedema.
  • Exercise: Exercise can not only help keep excess body fat at bay, it also helps move blood and lymph fluid. As your muscles move and contract, it helps pump blood and lymph through your limbs. If you have advanced or painful lipedema, partaking in water exercises can help you reap the benefits of exercise with less discomfort.
  • Try compression garments or wraps: Wearing compression garments or wraps that apply slight pressure to the limbs can help prevent excess fluid accumulation.
  • Use massage: Massage therapy and manual lymphatic drainage can also help get accumulated blood and lymph fluid flowing through your limbs.
  • Incorporate supplements: Studies have found that a combination of specific supplements can help manage and minimize symptoms associated with Ehler’s-Danlos Syndrome. They are:11
    • Calcium
    • Carnitine
    • CoQ10
    • Glucosamine
    • Magnesium
    • Methyl sulphonyl methane
    • Pycnogenol
    • Silica
    • Vitamin C
    • Vitamin K

Ehler’s-Danlos Syndrome and lipedema may not be curable, but prioritizing your overall health can have a huge impact on your symptoms and progression.

Are You Struggling With Ehler’s-Danlos Syndrome or Lipedema?

If you or a loved one has been diagnosed with Ehler’s-Danlos Syndrome or lipedema, understanding your condition and how you can best manage it is crucial. And while there are ways you can physiologically cope with your symptoms, the truth is, dealing with a chronic and/or progressive condition can be downright challenging. 

So in addition to taking steps to stay physically healthy, it’s important to take care of your mental and spiritual health too. Things like getting support and connecting with others, taking time to practice mindfulness and meditation, and strengthening your resilience can go a long way. And seeking out the guidance of an experienced Integrative and Functional Medicine Practitioner that will look at the big picture and prioritize your overall well-being is something I strongly encourage you to do.

If you enjoyed this article, I’ve got tons more science-backed and up-to-date information over on my blog. Or if you want to take it even deeper, you can sign up for my newsletter – all you have to do is enter your name and email address in the form below.

Now it’s time to hear from you. Do you or a loved one suffer from Ehler’s-Danlos Syndrome? Were you surprised to learn about the link between Ehler’s-Danlos Syndrome and lipedema? Leave your questions and thoughts in the comments below!

References:

  1. EDS Types | The Ehlers Danlos Society : The Ehlers Danlos Society (ehlers-danlos.com)
  2. Ehlers-Danlos Syndrome: Symptoms, Causes, Treatments (clevelandclinic.org)
  3. Collagen: The Fibrous Proteins of the Matrix – Molecular Cell Biology – NCBI Bookshelf (nih.gov)
  4. Ehlers-Danlos syndromes | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program (nih.gov)
  5. Ehlers-Danlos syndromes – NHS (www.nhs.uk)
  6. Accurate diagnosis and self-care support for women with lipoedema | Practice Nursing (magonlinelibrary.com)
  7. Subcutaneous Adipose Tissue Diseases: Dercum Disease, Lipedema, Familial Multiple Lipomatosis, and Madelung Disease – Endotext – NCBI Bookshelf (nih.gov)
  8. Lipedema: A Painful Adipose Tissue Disorder | IntechOpen
  9. Lipedema: friend and foe (nih.gov)
  10. Subcutaneous Adipose Tissue Diseases: Dercum Disease, Lipedema, Familial Multiple Lipomatosis, and Madelung Disease – Endotext – NCBI Bookshelf (nih.gov)
  11. A novel therapeutic strategy for Ehlers–Danlos syndrome based on nutritional supplements – ScienceDirect

* These statements have not been evaluated by the Food and Drug Administration. The product mentioned in this article are not intended to diagnose, treat, cure, or prevent any disease.   The information in this article is not intended to replace any recommendations or relationship with your physician.  Please review references sited at end of article for scientific support of any claims made.

Categories: Autoimmune Health, Gut Health, Skin CareBy Dr. Jill C. Carnahan, MD, ABIHM, IFMCPFebruary 25, 202112 Comments
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Author: Dr. Jill C. Carnahan, MD, ABIHM, IFMCP

https://www.jillcarnahan.com/

Dr. Jill is Your Functional Medicine Expert! She uses functional medicine to help you find answers to the cause of your illness and addresses the biochemical imbalances that may be making you feel ill. She'll help you search for underlying triggers contributing to your illness through cutting edge lab testing and tailor the intervention to your specific needs as an individual. She may use diet, supplements, lifestyle changes or medication to treat your illness but will seek the most gentle way to help your body restore balance along with the least invasive treatment possible. Dr. Jill is a functional medicine expert consultant and treats environmental and mold-related illness as well

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12 Comments

  1. Beth says:
    February 27, 2021 at 7:42 am

    Thanks Jill! This is exactly what I have! Started with gastritis that I thought was a heart issue. Finally years later was diagnosed. Then I had vitiligo and slowly lost all of my pigment over 8 years. In the meantime I had breathlessness while standing or sitting (probably POTS) and started having my arms and legs progressively enlarge. Then I was diagnosed with Barrett’s Esophagus and a Hiatal Hernia. I also have Lichen Sclerosis. I’m fracturing a lot these days and was also diagnosed with severe Osteoporosis. I am now having success with a lectin free diet to lose some weight. I walk about 21 miles a week and do p/t for trunk stabilization for my hip. I get lymph massage and wear stockings. I meditate which helps. So glad this is all finally put together!. Thanks for all of your work Jill!

    Reply
  2. Juliet Estrada-Hoban says:
    February 27, 2021 at 8:04 am

    I believe EDS runs in my family. I also believe I have Lymph and Lipoedema. I haven’t Been able to find someone to help me. I have more pain and swelling on my left side. I would love to know what supplements and dose to take. I’m ready to try new things. I cant Lose weight in my arms and legs. The keto Diet has worked some. Also, does taking collagen help?

    Reply
  3. Carolyn says:
    February 27, 2021 at 9:46 am

    After 30 years of seeming unrelated symptoms I was given an EDS hyper mobile at age 46. My three sons also have it. So happy they can have the informations sooner and hopefully not end up with the level of chronic pain I have.

    Reply
  4. Summer says:
    February 27, 2021 at 11:14 am

    Would love to know more about how to get genetically tested for this. Also how it plays into POTS.

    Reply
  5. Caroline Norden says:
    February 27, 2021 at 11:24 am

    Please look into the ground breaking and dedicated work of Deborah Cusack, a trained microbiologist and mother of four children with Ehlers Danlos. She researched and developed a protocol, which she tested on her family before going live on Facebook in 2014 and presenting to the Ehlers Danlos Society in 2016. The facebook group is called : Ehlers Danlos Syndrome and the Cusack Protocol. It’s a life-long use of daily supplementation to regenerate and maintain connective tissues until a cure for EDS is found. The chart of supplements and suggested doses is posted in the facebook group and includes: Aloe or Maitake, the probiotic strain L-Ramnosus, PQQ, L-arginine, D-Ribose, Lion’s Mane, DE (food Grade), Glucosamine Chondroitin. Please note that conditions such as lyme, mold exposure and other toxicities may need to be addressed first. This information needs to be shared with functional medicine physicians as many people are having great success with this protocol.

    Reply
  6. Brandon says:
    February 27, 2021 at 12:12 pm

    Intracranial hypertension is another common finding!

    Reply
  7. Shinah Bnai says:
    February 27, 2021 at 12:18 pm

    Hi Dr Jill-
    Im in CO and have a few questions….
    What are your methods if diagnosing this syndrome? Have you found other underlying causes other than defects in genetic coding?
    Have you ever used homeopathic tissue salts in remedy?
    Thank you!

    Reply
    • Jill Carnahan, MD says:
      February 27, 2021 at 10:17 pm

      Hi SHinah,
      EDS is a clinical diagnosis. I do use various homeopathic remedies but generally leave that to the experts in homeopathy.
      warmly
      Dr Jill

      Reply
  8. Donna Newman says:
    February 27, 2021 at 6:59 pm

    Dr. Stephanie Seneff of MIT has spoken convincingly about the likely substitution of the widely-used weedkiller glyphosate for the usual glycine residues (1/3 of the total amino acids in collagen) during collagen synthesis in creating malformed and malfunctioning collagen molecules. Please consider specifying in your management advice to avoid glyphosate-treated foods by buying and eating only ORGANIC, Roundup-free foods; also, adding a glycine supplement to the diet to compete with any glyphosate remaining in the body would prevent its further incorporation into collagen and multiple other proteins and enzymes. This may not prevent erroneous collagen synthesis in some people with actual genetic mutations, but it should help eliminate at least one devastating but avoidable source of damage to connective tissue in most others and would support general health in everybody. Glyphosate in our environment and food may be a major reason for the swiftly-increasing incidence of joint and connective tissue disease.

    Reply
  9. Kim says:
    February 28, 2021 at 2:25 pm

    Hi Dr Jill,

    I checked your cited sources at the bottom, and I couldn’t find anything that indicated that lipedema is caused by it is a side effect of EDS, as your article stated. Could your point me towards any information you have that indicates that?

    I have been diagnosed with both of these conditions by a physician who is a true expert in lipedema and is currently involved in four ongoing lipedema studies, and is the chair of the NIH committee that is writing the guidelines for the standard of care for lipedema patients.

    According to him, upwards of 50% of patients with lipedema do also have EDS, but lipedema is not caused by EDS. Both lipedema and EDS are connective tissue disorders. Everyone who has lipedema does not have EDS. He says that lipedema is caused by a combination of genetics and hormones.

    If you have sources or links to differing information, I would be extremely interested. Thank you!

    Reply
    • Jill Carnahan, MD says:
      March 8, 2021 at 2:06 pm

      While there is a link, we have clarified the article to more accurately reflect association vs. causation. thank you, Kim

      Reply
  10. Molly Leigh says:
    April 6, 2021 at 4:34 am

    I have hEDS and have struggled with my heavy legs my whole life! I’m only 52kg and physically fit enough to run half marathons and my cankles and thighs have always been so detrimental towards how I feel about myself. I’ve spend thousands on lymphatic massage, cupping, diets and other ‘fixes’ … I even looked into liposuction and went so far as to book fat freezing (chillsculpt) to damage adipose cells but couldn’t get doctors approval because of my raynauds/circulation problems. I wish there was an easy fix :’(

    Reply

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