Marfan syndrome

In France, nearly 12,000 people are affected. If the disease is considered a rare disease, this figure is not provided negligible. Achievement of ligaments, bones, eyes, heart vessels ... What should we know about the disease?
Marfan syndrome is a rare genetic disorder that affects the connective tissues of the body. The eye, bone and cardiovascular system are primarily affected by the disease.

Marfan syndrome may be familial, due to the presence of a defective gene transmitted by a parent. However, there are non-hereditary cases, secondary to spontaneous mutation of a specific gene. The causes of this change are not yet known.

The connective tissue is found throughout the body. Signs of Marfan syndrome is essentially secondary to:

- A decrease in the resistance at the vascular wall

- A disease of the heart valves (especially the aortic and mitral valves).

- A breach of the ligaments of the lens of the eye

Cardiovascular damage are the most serious. However, the signs are inconsistent from one patient to another. Marfan syndrome is characterized by:

- Abnormal skeletal growth: long arms, long fingers, long legs, the patient is often thin. Sometimes there is a deformation of the spine causing scoliosis

- Visual disturbances associated with conditions such as nearsightedness (most common), the retinal detachment, cataract, glaucoma

- Cardiovascular signs are based on forms of the disease (aortic aneurysm, aortic dissection, mitral valve prolapse): exertional dyspnea, heart rhythm disorders, fatigue, heart failure. These signs can be complicated to achieve a sudden death.

- Pulmonary signs are sometimes found, and appear based on damage. For pneumothorax, pain and shortness of breath are marked.

- The bowel and bladder damage can cause digestive and urinary symptoms.

- Other inconstant signs: headache, back pain, stretch marks on the shoulders and buttocks.

Patients with Marfan syndrome are treated individually and personalized as the signs are different from one individual to another.

Cardiovascular diseases are usually treated with beta-blockers, calcium channel blockers, ACE inhibitor (ACE) or angiotensin antagonists. Anticoagulants are sometimes used.

Eye problems are taken care of by the way specialized ophthalmologist.

These medical treatments are sometimes associated with orthopedic and physiotherapy (correction of bone deformities).

Intense sports are not recommended. Walking and cycling are often appropriate exercises. Stress and fatigue should be avoided.

Today, the French Association of Marfan syndrome and related or AFSMA offers help and support to patients affected by the disease.