Ehlers-Danlos syndrome

About

Ehlers-Danlos syndrome (EDS) is a group of inherited disorders that affect the connective tissues, mostly of the skin, joints and walls of the blood vessels. It is named after two physicians, Edvard Ehlers of Denmark, and Henri-Alexandre Danlos of France, who first described it in the beginning of the 20^th century. EDS is known to occur in 1 out of 5000 individuals. This estimate is not considered accurate due to the wide range of severities among patients across the world.

Connective tissue is comprised of proteins and other substances and helps to provide strength and elasticity to the organs or structures that are associated with it such as skin, joints, muscles, ligaments, blood vessels and visceral organs. EDS is reported to be caused by an abnormality in COL5A or COL3A genes. This could lead to a defect in the structure, production, or processing of collagen or in the proteins that combine with the collagen. In the majority, these mutations are inherited in the autosomal dominant pattern.

It is therefore common to find people with Ehlers-Danlos syndrome having extremely flexible joints and fragile skin which lacks elasticity. In those with a more severe form of the disorder known as the vascular Ehlers-Danlos syndrome, the walls of the blood vessels, intestines or uterus can rupture. People with this subtype often share distinctive facial features and have translucent skin that bruises easily.

In those with certain subtypes of Ehlers-Danlos syndrome, such as the vascular variety, there''s a 50-50 chance that the genes will be passed on to the next generation. It is therefore advisable for those with EDS to consult a genetic counselor before they plan to start a family.

The severity of the disease depends on the type of mutation present. As there is no cure for EDS, treatment should focus on support to the patient and closely monitoring the uterus, digestive, and the cardiovascular systems.

Symptoms and Signs of Ehlers–Danlos syndrome

Some of the signs and symptoms of the most common type of Ehlers-Danlos syndrome are as follows:

• Overly flexible joints
• Stretchy skin which feels soft and velvety
• Fragile skin which does not heal well in case of wounds

• Fatty lumps which are harmless growths at pressure points around the knees or elbows.

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Diagnosis and Treatment of Ehlers–Danlos syndrome

Diagnosis of EDS is done by assessing the medical history and through a physical examination. Genetic and biochemical studies also help to identify affected people. Some effective diagnostic tests include -

• Collagen gene mutation testing
• Collagen typing via skin biopsy
• Echocardiogram
• Lysyl hydroxylase or oxidase activity

However, these tests are not of much help if the mutation causing the disease is unmapped. For those with a family history, it would be a good idea to do a prenatal diagnosis while starting a family.

There is no cure for EDS and the treatment is mostly palliative. There must be focus on improving the life of the affected person. Close monitoring of the patient’s functioning must be carried out. Treatment methodologies include -

• Physiotherapy - exercises can help to strengthen the muscles around the joint
• Occupational therapy - which is more focused on enabling the person to carry out specific activities which are work-related.

• Use of orthopedic instruments (wheelchairs, bracing, casting)

Care must be taken to avoid activities that cause stress to the joints. In extreme cases, surgery is advised. Common surgical procedures include joint debridement, tendon replacements, capsulorraphy and arthroplasty; these have been found to improve patient mobility and bring about pain reduction. It must be noted that the use of catheters in procedures can increase the likelihood of hematoma in these patients.

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Pain-relieving medications such as ibuprofen (Advil, Motrin IB, others) and naproxen (Aleve) are prescribed. Sometimes stronger medications may have to be given. Blood pressure lowering medications may also be administered to keep the stress on the blood vessels optimized.

EDS is a chronic condition that will last all through a person’s life; prognosis depends upon the type of disease and the severity of the symptoms. These patients are also likely to face social obstacles and experience fears due to their disease. Although the risk for sudden death is high, the majority live a normal life span. It is important for those affected to increase their knowledge of the condition and build a support system involving friends and relatives to help counter the condition.

Some lifestyle changes to manage EDS include the following -

• Avoid injury by avoiding activities that increase risk for injuries
• Reduce clutter in the house to prevent falls and injuries
• Use mild soaps and sunscreen