Image by Tumisu from Pixabay

Ehlers-Danlos Syndromes (EDS) are not a single diagnosis, but rather a collection of six subtypes of collagen disorders, with thirteen variants beyond those. The condition is genetic, and usually autosomal dominant (meaning that if you inherit a single copy, you have the syndrome, rather than needing a copy from each parent). The mutations can occur de novo too, though (or without being inherited—just in the individual) up to 50% of the time.

Ehlers-Danlos Symptoms

Since our bodies are primarily made of collagen (skin, bones, cartilage, blood vessels, fat cells, connective tissue, etc), the potential symptoms of EDS are many and varied. Most common symptoms are hypermobility and joint laxity (often first diagnosed after a shoulder dislocation), skin hyper-elasticity and poor wound healing, chronic pain and muscle weakness, and fragile blood vessels with easy bruising and bleeding, without any other obvious cause.

In many cases, EDS can also include dysautonomia, or dysfunction of the autonomic nervous system (very often this presents as POTS, or Positional Orthostatic Tachycardia Syndrome), MCAS, and gut motility issues.

Dental problems are also common, as dental ligaments are made of collagen, too. Sometimes dentists are the first to make the observation leading to diagnosis.

Most women with a condition called lipedema, or accumulation of fatty tissue below the skin in the limbs, also have EDS, though it’s unclear whether this is a related condition or part of EDS itself. Since subcutaneous adipose tissue is a type of connective tissue, it would make sense that they would be part of the same disorder. In addition to fatty tissue deposition, lipedema is also characterized by poor lymphatic circulation through the limbs, and accumulation of metabolic waste in the extracellular space, leading to inflammation and subsequent fibrosis.

Ehlers-Danlos Diagnosis

The variability of the symptoms is part of what makes EDS so difficult to diagnose. It’s also not easy to run the genetic tests to identify the sub-type, as traditional labs don’t run them (generally you have to see a geneticist for this)—and one common subtype doesn’t have a known gene mutation associated. Because of this, diagnosis is often clinical—based on the genes when available, family history, symptoms, and clinical criteria.

By far the most common of the six subtypes are the first four: classical (which comprises I and II), including joint and skin hyper-mobility, and easy bruising; hypermobility (type III) which includes joint hyper-mobility as well as dislocations and pain (this is the one with no known associated gene mutation, and it’s also the most common subtype), and vascular (type IV), which involves thin skin, easy bruising, and arterial or uterine rupture, spontaneous pneumothorax, as well as small joint hyper extensibility. All of these follow an autosomal dominant inheritance pattern.

Far less common autosomal recessive subtypes (meaning you can inherit them only if both parents give a copy of the same gene) are types V and VI, which involve improper lysine linkages in collagen. Another rare subtype involves abnormal copper metabolism.

The primary argument for genetic testing and exact diagnosis is awareness of potential severe risk factors, so that proper screening and prevention can be done.

Treatment for Ehlers-Danlos Syndromes

Of course, as of now, we can’t change our genes—so officially, there’s no treatment to completely resolve EDS symptoms.

That said, this study from all the way back in 2005 made the interesting argument that in identical twins with connective tissue disorders, symptoms can still vary widely—the old “nature vs nurture” argument. Identical twins share the same genetic code, so variation between them must be environmental. The study’s authors concluded that therefore, even though the genes can’t be modified, nutritional supplementation for common symptoms of EDS should be just as relevant as with any other cause of those same symptoms.

They therefore recommended calcium, carnitine, CoQ10, glucosamine, magnesium, methylsulphonylmethane (MSM), pycnogenol, silica, vitamin C, and vitamin K.

Vitamin C is synergistic with collagen, aiding in its formation and strength (when, of course, levels are either low or demand for Vitamin C is especially high). MSM and silica were also recommended as collagen building blocks. (You’d think collagen itself would be useful for EDS, though I was only able to find this one case study to demonstrate that this is in fact the case.)

While connective tissue includes collagen, it also includes glucosamine, which is why that was included in this proposed formula.

Bones are made of collagen, but are also a reservoir for calcium, and Vitamin K helps to put calcium where it belongs.

Carnitine and CoQ10 are two of the most common supplements utilized for mitochondrial support—and the mitochondria produce ATP, the body’s energy currency, plentiful amounts of which are necessary to heal just about anything.

While blood vessels are made of collagen, pycnogenol increases bioavailability of Vitamin C and blocks collagen breakdown, which is likely why it is so beneficial to both skin and blood vessels. This study shows that pycnogenol is very helpful for those with venous insufficiency, edema, and spider veins.

And of course, plenty of salt and water intake helps with orthostatic hypotension and POTS symptoms.

Interestingly, this recent study draws a strong correlation between EDS clinical presentations, and undermethylation, even going so far as to suggest that EDS can be treated with 5-MTHF, or activated folate.

The Upshot

In the vast majority of even clearly genetically correlated disorders, genes still do not dictate destiny.