Genetic diseases: Ehlers-Danlos syndrome

Definition :

It is a group of disorders or genetic alterations that produce a collagen deficiency, weakening the connective tissue in the skin, bones, blood vessels, and organs. Joints can become extremely loose and lax, and the skin can become very elastic.

Causes :

Ehlers-Danlos syndrome is caused by mutations in certain genes that alter the structure, production, or processing of collagen. Collagen provides structure and strength to connective tissues throughout the body. It is characterized by joint hypermobility (joints that move beyond their normal range of motion), skin hyperextensibility (skin that stretches more than normal), and tissue fragility.

Genetics of the disease :

EDS is caused by mutations in several genes ADAMTS2 , COL1A1 , COL1A2 , COL3A1 , COL5A1 , COL5A2 , PLOD1 and TNXB that alter the structure, production, or processing of collagen or proteins that interact with it. The inheritance of this disease is mostly autosomal dominant, meaning that only one of the two copies of the gene is required for it to develop. A minority of cases are inherited in an autosomal recessive manner, meaning that an alteration must exist in both genes.

Symptoms :

People with this disorder often have fragile, stretchy skin and overly flexible joints. They may also bruise with any impact, and in some cases, abnormal scarring. The most common type is hypermobility, and the most severe is vascular Ehlers-Danlos syndrome, which can weaken the heart's largest artery (aorta).

Diagnosis :

This syndrome is diagnosed based on the signs and symptoms, a complete medical history, and a physical examination. In some cases, genetic testing is important. Blood and other body tissue tests can also help determine and assess the risks of this disease when trying to conceive. www.genotica.com We have tests that study this disease and its related mutations, such as the test NGS-SEQ+CNVs – EHLERS-DANLOS from Lorgen.

Treatment :

There is currently no cure for EDS, and treatment depends on the presenting problems, but it usually includes physical therapy, rehabilitation, and medication to relieve symptoms. Genetic testing can help determine and assess the risks of this condition when trying to have a child.