Fabry disease

Fabry disease is inherited in an X-linked pattern, which means that the gene that causes the condition is located on the X chromosome.^[2][3] In males (who have only one X chromosome), one changed copy of the gene is enough to cause symptoms of the disease. Because females have two copies of the X chromosome, one changed copy of the gene in each cell usually leads to less severe symptoms than seen in males, or may cause no symptoms at all.^[2]

Management for Fabry disease may include treatment of specific signs and symptoms as well as prevention of secondary complications.

Treatment for episodes of severe burning pain in the hands and feet (acroparesthesias) may include phenytoin and/or carbamazepine to reduce the frequency and severity of pain crises; or gabapentin, which has also been shown to improve pain.^[3]

Decreased kidney function (renal insufficiency) may be treated with ACE inhibitors. Experts recommend ACE inhibitors for all individuals with evidence of kidney involvement, especially to reduce protein in the urine (proteinuria). Chronic hemodialysis and/or renal transplantation have become lifesaving procedures for people with Fabry disease and kidney involvement. The transplanted kidney remains free of the harmful fatty substance (glycosphingolipid) deposition. Therefore, after a  successful kidney transplantation, kidney function will be normal. Transplantation of kidneys from carriers for Fabry disease should be avoided because these kidneys may already be affected. All potential donors that are relatives of the a person with known Fabry disease should have their genetic status checked to make sure they are not an undiagnosed male with Fabry disease or a carrier female.^[3]

Enzyme replacement therapy (ERT) using human α-Gal A enzyme is generally used to improve some of the the signs and symptoms associated with Fabry disease and to stabilize organ function. Many experts have recommended that ERT be started as early as possible in all males with Fabry disease (including children and those with end stage renal disease (ESRD) undergoing dialysis and renal transplantation) and in female carriers that are significantly affected. All of these individuals are at high risk for heart (cardiac), cerebrovascular (blood vessels of the brain), and neurologic complications, such as transient ischemic attacks and strokes. The role of ERT in the long-term prevention of kidney, heart, and central nervous system (CNS) complications is unproven; however, because ERT can stabilize organ function in people with more advanced disease, some experts have suggested starting ERT in early disease stages before complications occur. This might include starting ERT when aperson with Fabry disease who does not have any symptoms yet. ERT should be discontinued if there is no improvement.^[3]

Prevention of complications such as renovascular disease (conditions affecting the blood vessels of the kidneys), ischemic heart disease, and cerebrovascular disease (conditions affecting the blood vessels of the brain) in people with Fabry disease is generally the same as for the general population. Measures taken may include ACE inhibitors and/or ARB drugs for proteinuria or albuminemia (high levels of albumin in the blood); blood pressure control; and cholesterol control. Aspirin and other medications may be recommended for the prevention of stroke.^[3]

Surveillance may include yearly or more frequent kidney function studies, yearly heart checkup, and yearly hearing evaluation, as well as brain image studies every two years.^[3]