Description, Causes And Risk Factors:
Also called as Fabry Disease.
Alternative Names: Diffuse angiokeratoma, glycolipid lipidosis, ?-galactosidase A deficiency, hereditary dystopic lipidosis, and GLA deficiency.
Anderson-Fabry disease is an inherited genetic disorder caused by a defective gene. The disease causes fatty deposits in several organs of the body. The disease is caused by a defect in the gene that controls an enzyme called ?-galactosidase A (?-gal A). This enzyme is responsible for the breakdown of a fatty lipid called globotriasylceramide (GL3). When ?-gal A does not function, GL3 gathers and is placed in the walls of blood vessels in tissues throughout the body, interfering with their function. Anderson-Fabry disease is called a “storage disorder” due to this abnormal buildup. The buildup eventually causes obstruction of blood flow, which ultimately leads to ischemia (lack of oxygen and nutrients) of the surrounding tissues. This accounts for the symptoms associated with this. The gene responsible for ?-galactosidase is located on the long arm of the X chromosome. There have been almost 200 mutations identified.
The primary risk factor for Fabry disease is having family members with the disease or who are carriers of the disease.
The disease is extremely rare, affecting only 1 in 40,000 live births
Symptoms of Anderson-Fabry disease:
Pain and burning sensations in the hands and feet.
- Dark red skin lesions that generally are found in the area between the belly button and the knees.
- Inability to sweat.
- corneal opacities.
- Problems with the kidneys or heart.
- Risk of early stroke or heart attack.
- Chest pain.
- Frequent bowel movements after eating.
- Joint or back pain.
- Ringing in the ears.
The disease usually has a slow progression. Proof that Anderson-Fabry disease is causing heart and kidney problems usually shows between the ages of 30 to 45. This is usually the time of diagnosis for most patients since this disease is commonly overlooked in childhood due to its rarity. In addition to kidney failure, the disease in advanced stages may cause an enlarged heart, disturbances in the cardiac rhythm and valvular abnormalities. When decreased blood flow occurs in the brain, patients can develop dizziness, seizures and strokes.
Anderson-Fabry disease is difficult to diagnose because of its heterogeneous signs and symptoms. There is a big list of possible differential diagnoses according to the varied clinical presentations. Correct diagnosis is important because of the progressive morbidity associated with advancing disease.
Lab tests should consist of examination of urine sediment, measurement of renal function and proteinuria, and a screening enzyme evaluation for ?-gal A. Those who screen positive should have the enzyme activity in leukocytes measured. Low levels of ?-gal A are diagnostic of Fabry disease in men. In females, enzyme tests results can be misleading so genetic testing is usually more helpful to diagnose the disease and identify female carriers. In some cases, diagnosis is made by biopsy of skin lesions and/or kidneys, but usually less invasive tests as those described above are used. Other helpful investigations include ECG, MRI, echocardiography, etc. Eye examination may show diagnostic corneal or lenticular deposits.
There is no cure for Anderson-Fabry disease, although it may be treated by enzyme replacement. Specific symptoms, such as pain, and complications, such as high blood pressure, can be treated with the appropriate medication. Enzyme replacement therapy can reduce lipid storage, ease pain, and improve organ function. The pain in the hands and feet usually responds to anticonvulsants such as phenytoin and carbamazepine. Gastrointestinal hyperactivity may be treated with metoclopramide.
Anderson-Fabry disease approved the use of “Fabrazyme” (recombinant alpha-galactosidase), an enzyme replacement therapy as treatment for Fabry disease. While the long-term effects and risks of this treatment are not yet known. Studies have shown that this enzyme replacement therapy significantly reduces pain and helps keep the kidneys and heart healthy. Fabrazyme treatment is more effective when started early in the disease process.
In the future, gene therapy may be effective in treating the Fabry disease completely and the research studies on genetic science are being done.
Since Anderson-Fabry disease is a very rare disorder, few people understand what patients and their families must experience. It is important patients and their families network with each other, and seek help from their friends and a healthcare team.
The following drugs and medications are in some way related to, or used in the treatment. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.
The following tests, drugs and medications, surgical procedures are in some way related to, or used in the treatment. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition.
DISCLAIMER: This information should not substitute for seeking responsible, professional medical care.