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Ehlers–Danlos syndrome is a genetic disorder of connective tissue (but not an autoimmune disorder, like lupus) that supports the skin, bones, blood vessels, and many other organs and tissues. While patients are born with Ehlers-Danlos, it sometimes doesn't express itself and a diagnosis isn't made until later in adulthood. The prevalence is approximately 1 in 5,000 individuals worldwide.
Vascular Ehlers-Danlos is fortunately relatively rare. It has an autosomal dominant inheritance pattern, resulting from mutations in the COL3A1 gene. The vascular type is associated with a shortened life-span, with a median life expectancy of 48 years. Death typically occurs from rupture of blood vessels, the intestines, or the uterus (in women).
The most common type of Ehlers-Danlos is the hypermobility type, which usually does not lead to vascular complications. While genetic testing is sometimes required, the diagnosis of Ehlers-Danlos is often made on clinical findings that include marked joint hypermobility, fragile and stretchy skin, and a family history of Ehlers-Danlos syndrome. The smooth, velvety skin in Ehlers-Danlos is fragile and tears or bruises easily with minor trauma. Joint dislocations and scoliosis are common. Stretchiness, abnormal scarring, stretch marks at a young age, easy bruising and slow wound healing are all signs of the classical form of Ehlers-Danlos.
The Beighton score can be used as an aid to diagnosis in the hypermobility (“classical”) form of Ehlers-Danlos. It is a set of simple tests for joint hypermobility that includes:
Passive dorsiflexion and hyperextension of the fifth MCP joint (little finger) beyond 90 degrees;
Passive apposition of the thumb (when bent backward) to the flexor aspect of the forearm;
Passive hyperextension of the elbow that bends backwards beyond 10 degrees;
Passive hyperextension of the knee beyond 10 degrees;
Active forward flexion of the trunk with the knees fully extended so that the palms of the hands rest flat on the floor.
Disability Benefits for Ehlers-Danlos Syndrome
Whether you are applying for Social Security Disability (SSDI) benefits or for long-term disability (LTD) benefits under an employer-sponsored group plan (ERISA), it will be important to consult with a doctor who is knowledgeable and experienced with Ehlers-Danlos, and with a lawyer who understands this condition and can work with your doctor. It is extremely important to properly document in the medical records the diagnosis of Ehlers-Danlos and its disabling symptoms.
Careful documentation of symptoms, such as joint pain, degenerative arthritis, dislocation of joints, scoliosis, frequent tearing or bruising of the skin (even with minor trauma), and slow healing, should be documented in the medical records, along with any objective testing (e.g., Beighton score; genetic testing) to confirm the diagnosis.
Vascular, intestinal, or uterine complications related to Ehlers-Danlos can be catastrophic and require documentation from the medical and hospital records.
The documentation your doctor enters in the medical records must also include a detailed description of what specific activities you can and cannot perform (“functional impairments”). These functional impairments should include home-based activities (e.g., making the beds, preparing meals, shopping) that you are unable to do, and job-related activities (e.g., sitting, standing, walking, lifting, carrying, concentrating, staying on task) that you are unable to do.
Just having a diagnosis of Ehlers-Danlos is not enough to obtain an award of disability benefits. Your attorney must work with your doctor to document not only the medical details of your Ehlers-Danlos, but also the functional impairments that it causes.
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