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Fabry Disease

(Fabry's Disease; Angiokeratoma Corporis Diffusum)

By

Matt Demczko

, MD, Mitochondrial Medicine, Children's Hospital of Philadelphia

Medically Reviewed Dec 2021 | Modified Sep 2022
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Topic Resources

Fabry disease is a type of lysosomal storage disorder Overview of Lysosomal Storage Disorders Lysosomal storage disorders are hereditary metabolic disorders. Hereditary disorders occur when parents pass the defective genes that cause these disorders on to their children. There are different... read more called a sphingolipidosis. It is caused by a buildup of glycolipid in tissues. This disease causes skin growths, pain in the extremities, poor vision, recurring episodes of fever, kidney failure, and heart disease. Fabry disease occurs when parents pass a defective gene Genes Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body. Chromosomes are structures within cells... read more Genes that causes this disease on to their children.

  • Fabry disease occurs when the body lacks enzymes needed to break down a glycolipid.

  • Symptoms include skin growths, eye problems, kidney failure, and heart disease.

  • The diagnosis is based on the results of prenatal screening tests, newborn screening tests, and other blood tests.

  • Most children who have Fabry disease live to adulthood.

  • Treatment includes enzyme replacement therapy.

There are different types of inherited disorders Inheritance of Single-Gene Disorders Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body. Chromosomes are made of a very long strand... read more . In many hereditary metabolic disorders, usually two copies of the abnormal gene are necessary for the disorder to occur, so an affected child inherited the abnormal gene from both parents. (Often neither parent has the disorder.) Some hereditary metabolic disorders are X-linked X-Linked Recessive Disorders X-Linked Recessive Disorders , which means, for boys, inheriting only one copy of the abnormal gene can cause the disorder. (See also Overview of Hereditary Metabolic Disorders Overview of Hereditary Metabolic Disorders Hereditary metabolic disorders are inherited genetic conditions that cause metabolism problems. Heredity is the passing of genes from one generation to the next. Children inherit their parents'... read more .)

Sphingolipidoses occur when people do not have the enzymes needed to break down (metabolize) sphingolipids, which are compounds that protect the cell surface and serve certain functions in the cells. There are many types of sphingolipidoses besides Fabry disease:

In Fabry disease, a glycolipid, which is a product of fat metabolism, accumulates in tissues. The enzyme needed to breakdown the glycolipid, called alpha-galactosidase A, does not work correctly. Because the defective gene for this rare inherited disorder is carried on the X chromosome, the full-blown disease occurs only in boys (see X-Linked Inheritance X-Linked Inheritance Genes are segments of deoxyribonucleic acid (DNA) that contain the code for a specific protein that functions in one or more types of cells in the body. Chromosomes are made of a very long strand... read more ). Because girls have two X chromosomes, affected girls may have symptoms but do not develop full-blown Fabry disease.

The accumulation of glycolipid causes noncancerous (benign) skin growths (angiokeratomas) to form on the lower part of the trunk. The corneas become cloudy, resulting in poor vision. A burning pain may develop in the arms and legs, and children may have episodes of fever. Children with Fabry disease eventually develop kidney failure Overview of Kidney Failure This chapter includes a new section on COVID-19 and acute kidney injury (AKI). Kidney failure is the inability of the kidneys to adequately filter metabolic waste products from the blood. Kidney... read more and heart disease, although, most often, they live into adulthood. Kidney failure may lead to high blood pressure, which may result in stroke.

Diagnosis of Fabry Disease

Treatment of Fabry Disease

  • Enzyme replacement therapy

  • Sometimes kidney transplant

Doctors treat Fabry disease with enzyme replacement therapy (agalsidase beta). Treatment also consists of taking analgesics to help relieve pain and fever or antiseizure drugs.

More Information

The following are some English-language resources that may be useful. Please note that THE MANUAL is not responsible for the content of these resources.

NOTE: This is the Consumer Version. DOCTORS: VIEW PROFESSIONAL VERSION
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