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 , 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
Prenatal screening tests
Newborn screening tests
Other blood tests
Before birth, Fabry disease can be diagnosed in the fetus by using the prenatal screening tests chorionic villus sampling Chorionic Villus Sampling Prenatal diagnostic testing involves testing the fetus before birth (prenatally) to determine whether the fetus has certain abnormalities, including certain hereditary or spontaneous genetic... read more or amniocentesis Amniocentesis Prenatal diagnostic testing involves testing the fetus before birth (prenatally) to determine whether the fetus has certain abnormalities, including certain hereditary or spontaneous genetic... read more .
After birth, Fabry disease may be diagnosed in some states by routine newborn screening tests Newborn Screening Tests Many serious disorders that are not apparent at birth can nonetheless be detected by various screening tests. Early diagnosis and prompt treatment can reduce or prevent many disorders that may... read more . Doctors measure levels of alpha-galactosidase A in blood or in white blood cells.
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.
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.
National Organization for Rare Disorders (NORD): This resource provides information to parents and families about rare diseases, including a list of rare diseases, support groups, and clinical trial resources.
Genetic and Rare Diseases Information Center (GARD): This resource provides and easy to understand information about rare or genetic diseases.