Fabry Disease – Alpha-galactosidase deficiency

Description of Fabry disease

Fabry disease is an inherited genetic disorder, caused by defects in the gene. The disease causes fatty deposits in several organs of the body.

Men, have inherited the defective gene will be expressed by the signs of the disease. Women, which have a single copy gene, called "carriers", and most of them have no symptoms. But, Some women have symptoms, and the severity of these symptoms can vary widely. In some cases, women have the disease can occur the same hard, as men.

Causes Fabry disease

The disease is caused by a deficiency of the enzyme alpha-galactosidase (melibiazy). He works, to derive fatty substance, called glycosphingolipids from the body. But, Fabry disease, melibiazy absence causes a fatty substance to accumulate in the blood and blood vessel walls. This leads to a narrowing of blood vessels. Finally, Low blood flow leads to problems of the skin, kidney, heart and nervous system.

Risk factors

The primary risk factor for Fabry disease is the presence in the family gene carriers of disease or patients it.

Symptoms of Fabry disease

Symptoms of Fabry disease may begin in childhood or adolescence. Symptoms usually include:

• Pain and burning sensation in the hands and feet, often provoked by exercise, fatigue, or fever;
• Spotted, dark red skin lesions (angiokeratoma), which are usually located in the area between the navel and the knees (They can also be found in other locations);
• Inability to sweat;
• Changes in the eyes (aglia, Cataract).

In adults,, Men may experience the following symptoms due to blockage of blood flow:

• Kidney problems, often requiring dialysis or transplant;
• Risk of early stroke or heart attack;
• Chest pain;
• Hypertension;
• Heart failure, left ventricular hypertrophy;
• Mitral valve prolapse;
• Frequent bowel movements after eating;
• Diarrhea;
• Back pain;
• Ringing in the ears or dizziness;
• Chronic bronchitis or shortness of breath;
• Osteoporosis;
• Delayed puberty or delayed growth.

Diagnosis of Fabry disease

Diagnosis is usually based on symptoms, vyshe.Test listed for measuring the enzyme alpha-galactosidase, or DNA analysis can confirm Fabry disease.

Treatment of Fabry disease

There is no treatment for Fabry disease. But 2003 году были проведены испытания и разрешено применение препарата “Фабразим” (Agalsidaza beta), for the treatment of Fabry disease. While the long-term effects and risks of this treatment are not yet known, treatment is now recommended for all adults with Fabry disease and for all adult women, which are its nostelyami. Currently, active research treatments for Fabry disease.

Currently, for treatment of symptoms of Fabry disease, the following medications and procedures:

For the treatment of pain

• Carbamazepine (Tegretol). Attention!!! According to research, Patients of Asian descent, who have a certain gene, named HLA-B * 1502, and take carbamazepine, risk of dangerous or even fatal skin reactions. It is recommended to get tested for this gene, before taking carbamazepine.
• Phenytoin (Dilantin);
• Gabapentin (Neurontin).

Gastric hyperactivity Treatment

• Lipisorb;
• Metoclopramide (Reglan);
• Drugs with pancreatin.

For the treatment of certain cardiac disorders

• Antykoahulyantы

Treatment of renal disease

• Hemodialysis;
• Kidney transplantation.

Prevention of Fabry disease

There is no prevention methods of Fabry disease. In the presence of disease-causing genes in the organism, or the presence of the patient's family, We need to examine all the risks, deciding to have children.