Is Ehlers Danlos syndrome a genetic disorder?

Yes, EDS is an inherited disorder, but it can also happen by chance in people who have no family history of the disease.

COL5A1, COL5A2, COL1A1, COL3A1, TNXB, PLOD1, COL1A2, FKBP14, and ADAMTS2 are some of the genes that can trigger Ehlers-Danlos syndromes (EDS). In certain families, however, the underlying genetic cause is unclear.

Collagen is a protein that gives connective tissues in the body structure and strength. Collagen structure, development, and processing are all affected by mutations in these genes, as are proteins that interact with collagen. Collagen deficiency may cause EDS symptoms by weakening connective tissues in the skin, bones, blood vessels, and organs.

A more comprehensive list of genes linked to EDS can be found on the Ehlers-Danlos Society’s website.

 

Genetics and genetic evolution of EDS

Ehlers-Danlos syndrome (EDS) is a group of hereditary heterogeneous disorders characterized by a loss of skin, joints, and other connective tissue tensile strength and integrity.

Abnormal collagen synthesis causes hyperextensibility of the skin, hypermobility of the joints, and tissue fragility, as shown by quick bruising and delayed wound healing with atrophic scarring in this community of connective-tissue disorders. EDS may be diagnosed by laboratory tests or a clinical review, depending on the type. Preventative steps should be taken after the syndrome has been detected.

Hippocrates’ medical writings, dating back to 400 BCE, were the first to identify people with lax joints and numerous scars. Dr A. Tschernogobow, a Russian dermatologist, submitted two case studies to the Moscow Venereology and Dermatology Society in 1892. The patients had loose, brittle skin and hypermobile big joints. His work is the first to provide a comprehensive clinical overview of EDS.

Additional clinical case studies by two physicians gave rise to the syndrome’s name: Edvard Ehlers, a Danish dermatologist in 1901, and Henri-Alexandre Danlos, a French physician with experience in the chemistry of skin disorders, in 1908. Both physicians correctly delineated the phenotypic characteristics of this category of inherited disorders by combining the relevant features of the condition. Ehlers-Danlos syndrome was first named in 1936.

Some EDS patients can perform impressive, almost impossible contortions that pique the interest of onlookers. Niccolo Paganini (1782-1840), the popular Italian violinist, had EDS phenotypic characteristics and was capable of miraculous feats in his playing due to his hypermobile and loose joints.

Historians identified performers with EDS characteristics who showed their hyperextensible tricks publicly in circuses and travelling shows in the late 1800s. Some became popular, earning monikers like “The India Rubber Guy,” “The Elastic Lady,” and “The Human Pretzel.”

When patients with clinical abilities like these are detected on physical examination, it raises suspicion about the diagnosis. Unfortunately, EDS patients are often misdiagnosed for years.

Management

Low-resistance exercise should be recommended for EDS patients to help improve muscle tone and strengthen loose joints. Physical therapy led by a physician with expertise dealing with patients who have connective-tissue abnormalities and joint pain can be very beneficial in long-term health management.

Patients with EDS should be taught to avoid heavy lifting and other movements that put undue pressure or stress on their already hypermobile joints (e.g., finger hyperextension that occurs with pushing off a wall with the palms of the hands). Advise patients to prevent joint hyperextension or joint locking from reducing joint trauma.

Fractures and dislocated joints can need surgery to be corrected. It is highly recommended that wound closure be done with staples or tape rather than stitches.

One of the most important aspects of EDS care is comprehensive and precise genetic therapy. Provide comprehensive information to the family about EDS’s inheritance pattern and recurrence risks, as well as a list of at-risk family members. Regardless of whether signs or symptoms are indicated by family history, screen relevant family members for subtle signs and symptoms of this disease.

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