Fabry S Disease

Fabry disease (also known as angiokeratoma) is a rare genetic disorder that affects the body's ability to break down fat. It is caused by a mutation in the GLA gene, which encodes the enzyme alpha-galactosidase A. A deficiency of this enzyme leads to the accumulation of fatty substances, in particular globotriacylamide, in the body's cells.

Symptoms of Fabry disease vary depending on gender and age. In men, early signs include a rash of angiokeratomas (small red or purple spots on the skin), pain in the arms and legs, problems with sweating, and bouts of abdominal pain. Later, problems with the kidneys, heart and brain develop. In women, symptoms usually appear later and are milder.

Diagnosis is made by testing the activity of the enzyme alpha-galactosidase A in the blood or other cells and/or DNA testing for mutations in the GLA gene. Primary treatments include enzyme replacement therapy to lower globotriacylceramide levels and symptomatic treatment of organ complications. Timely initiation of therapy improves the prognosis and quality of life of patients. The prognosis for late diagnosis and lack of treatment is unfavorable.

Fabry's disease, or Fabry's disease, is a rare hereditary recessive metabolic disorder. It is characterized by the accumulation of defective glycoprotein alpha-galactosidase A (a-Gal) in lysosomes, which accumulates in tissues and internal organs. Symptoms are associated with damage to blood vessels and aneurysms (usually glial infarcts) in the brain, leading to dementia and loss of urinary control. Urine tests reveal elevated levels of red blood cells and protein. Aneurysms, usually heart attacks, can rupture and cause fatal hemorrhage. Tears in the arteries of the hand can lead to amputations of fingers or limbs. Aneurysm rupture can also occur outside the central nervous system without causing any symptoms. Other manifestations include nephropathy, hepatosplenomegaly, arthralgias, and bone abnormalities.[1] The prognosis is poor, and mortality even in patients with asymptomatic a-Gal levels increases within 7 years after the first sign is detected.[2]

Fabry disease is sometimes associated with other rare inherited metabolic diseases, including trimethylaminuria, alcaic aciduria, catalase-negative aciduria, and aconitase aciduria. Because each of these diseases has problems with glycolysis, Fabry disease may be misdiagnosed as toxic metabolic encephalopathy.[3]

Due to the extremely rare occurrence of the disease, before meeting with a doctor, the patient may be confused by the translation of the name into Russian - angiokeratoma, since it is a defective red-brown tumor on the limb or head of the penis. Unfortunately, diagnosis of the disease can be late due to non-specific lesions, lack of mutual understanding between patients and doctors, and increased patient alertness when receiving medical tests due to a history of more serious diseases.