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Fabry Disease
Thursday, 05 August 2004
Sunday, 28 November 2004


Fabry disease is a very rare, inherited disorder that most commonly affects children. This disease is characterized as a lysosomal storage disease with a problem in breaking down glycosphingolipids. Glycosphingolipids (a type of fatty material ) are needed as part of the envelope that surrounds the cell. Lysosomal storage disorders are a subtype of genetic disorders that affect a cellular component called the lysosome. An example of a more well-known lysosomal storage disorder is Tay-Sachs disease.


The incidence of the disease across all populations is very small, estimated at 1 in 40,000 people in the United States. Fabry disease is a rare genetically inherited disease that presents mostly in childhood, but also can present in adulthood (males seem to be more predominantly affected than women). .

Signs and Symptoms

Fabry disease usually first presents in childhood with episodes of pain and burning in the feet and hands. These episodes usually occur after exercise or changes in weather conditions. The pain can last from minutes to weeks. Other common signs and symptoms include: 1. spotted dark red rashes on the body (usually from the belly down to the knees) 2. decreased ability to perspire (making them more heat sensitive and unable to exercise) 3. cloudy cornea (but it does not affect vision) 4. abdominal discomfort 5. frequent bowel movements shortly after eating 6. joint pain 7. back pain primarily in the kidney region 8. ringing of the ears (tinnitus) Unlike other lysosomal storage disease, children with Fabry’s disease do not have mental retardation. Fabry disease is a slowly progressive disease that eventually affects the arterial blood circulation in patients. This can lead to complications of different organ systems including kidney, heart and nerves usually by the time people are 30 to 45 years of age. Most people are diagnosed with Fabry disease when the accumulation of glycosphingolipids begins to affect the heart or kidney. Mitral valve prolapse, which can be found in other diseases, is a common heart symptom found in people with Fabry disease.

Possible Causes

Fabry disease is a lysosomal storage disorder that affects a cellular item called a lysosome. Each of our cells has small digestive units called lysosomes that break down discarded carbohydrates and fats in our cells; they are the trash incinerators in our cells. In Fabry disease, lysosomes are lacking a certain enzyme called alpha-galactosidase A. This enzyme normally digests glycosphingolipids (a type of fat molecule) called cerebroside trihexosides. In Fabry disease, there is an accumulation of these fatty glycosphingolipids in the lysosomes of fluids and tissues throughout the body. This accumulation causes individual cells to swell, especially the ones that line blood vessels (called endothelial cells). Damage to these cells causes disturbances can lead to strokes, renal failure and heart attacks. In other words, when there is a deficiency of alpha-galactosidase, the carbohydrates and fats cannot be digested so there is an accumulation of the fatty substances called glycosphingolipids in the lysosomes of every cell in our body. The major effect is on the cells of the heart, kidney and nervous system, leading to disturbances in blood pressure and blockage of small blood vessels. A gene for Fabry disease has been identified and follows an X-linked pattern of inheritance. This means that the faulty gene is on the X chromosome. This type of inheritance pattern makes it more likely for boys to be affected with this disease because they only have one X chromosome. Females with one affected X chromosome may exhibit some mild symptoms of Fabry disease, but are mostly normal and are carriers of the disease. A carrier can pass the disease onto her sons. Rarely a female will get two affected X chromosomes and will have Fabry disease


Children with Fabry disease usually first present with pain and burning in their hands and feet. Other symptoms that result in medical visitation are the spotty red rashes (angiokeratomas) on the child’s body. Blood and urine tests may be done if this disorder is suspected. The definitive diagnosis of Fabry disease involves two main tests. First a urine analysis will show a high number of lipid filled cells. This is what first suggests Fabry disease. Blood tests and analysis of white blood cells to check for the activity of alpha-galactosidase A may also be done. In Fabry disease, the level of alpha-galactosidase A will be low. Lastly, if Fabry disease is suspected a skin biopsy may be taken to analyze special skin cells called fibroblasts. High levels of lipids in fibroblast cells would support the diagnosis of Fabry disease. If Fabry disease runs in the family, doctors are now able to perform prenatal diagnosis for diagnosing Fabry disease before a child is born.


Current treatment for Fabry disease involves management of the symptoms and complications of the disease. While there are no medications used to target the problem within the cell itself, most medications used are to relieve symptoms and prevent worsening of the disease. Therapies include Tegretol to treat the pain in the hands and feets. Patients should also avoid known triggers like temperature extremes, stress, and physical exertion that can lead to the pain attacks. Medications are also used to treat gastrointestinal hyperactivity, susceptibility to strokes and heart attacks, and blood circulation problems. Clinical trials are under way in which patients are given the missing enzyme to decrease severity of pain attacks and halt the progression of the disease. While there is no cure for Fabry disease, current research involves gene therapy to treat patients of this disease. The hope is that soon we will understand all the genetics of this disease and one day the patient’s body will be able to make the deficient lysosomal enzyme.


While Fabry disease can be a fatal disease, children can live to adulthood with regular medical care and appropriate preventive treatments. However, patients with Fabry disease do have a highly increased risk towards strokes, heart attacks, and kidney damage. They need to have regular blood and urine tests to assess kidney function. They should also have an EKG and echocardiogram every few years to assess heart function. MRI or CT of the brain can look for strokes. Patients with Fabry Disease can live well into their 50s. Family members of patients with Fabry Disease should receive diagnostic testing and genetic counseling.

Connect with other parents

In the spirit of community and support, Madisons Foundation offers the unique service of connecting parents of children with rare diseases. If you would like to be connected to other parents of children with this disease, please fill out this brief form.


Fabry Support and Information Group: Fabry Disease
Organization whose mission is to raise awareness of Fabry disease and its symptoms. The FSIG website provides mutual self-help by linking patients and family members/caregivers so that they can support and encourage one another.

Fabry Community
A great site with detailed information about the disease, treatment options, support groups, and ongoing clinical research. F

Fabry Registry
The Fabry Registry is an ongoing, observational database that tracks natural history and outcomes of patients with Fabry disease. Participation is open to all physicians managing patients with Fabry disease. The purpose of this website is to collect clinical data about Fabry disease management in order to find the best therapies for this disease.

Lysosomal Storage Disease Network
Great website the provides information, resources, and services to physicians and patients alike in their efforts to cope with aspartylglycosaminuria.

CLIMB (Children Living with Inherited Metabolic Diseases)
UK Organization dedicated to fighting metabolic diseases through research, awareness and support. This organization provides advice, information and support on all metabolic diseases to children, young adults, and families.

Google Search for Fabry Disease

References and Sources

Emedicine.com: Fabry Disease www.emedicine.com/neuro/topic579.htm Fabry Support and Information Group: Fabry Disease www.fabry.org/ OMIM: Fabry Disease www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=301500 National Institute of Neurological Disorders and Strokes: Fabry Disease www.ninds.nih.gov/health_and_medical/disorders/fabrys_doc.htm