Enzyme replacement may
be effective in slowing the progression of the disease. The pain in the hands
and feet usually responds to anticonvulsants such as phenytoin
(Dilantin) and
carbamazepine (Tegretol, Tegretol XR , Equetro, Carbatrol). Gastrointestinal hyperactivity may be treated with
metoclopramide (Reglan, Octamide, Maxolon). Some individuals may require dialysis or kidney
transplantation.
What is the prognosis for Fabry disease?
Patients with Fabry disease often survive into adulthood
but are at increase risk of strokes, heart attack and heart disease, and
kidney
failure.
What research is being done on Fabry disease?
The National Institute of Neurological Disorders and
Stroke (NINDS), a component of the National Institutes of Health, conducts and
supports research to find ways to treat and prevent lipid storage diseases such
as Fabry disease. This research includes clinical studies by the NINDS
Developmental and Metabolic Neurology
Branch:http://www.ninds.nih.gov/find_people/labs/61.htm.
For more information
Fabry Support & Information Group
108 NE 2nd Street, Ste. C
P.O. Box 510 Concordia, MO 64020-0510
info@fabry.org
http://www.fabry.org
Tel: 660-463-1355
Fax: 660-463-1356
National Tay-Sachs and Allied Diseases Association
2001 Beacon Street Suite 204
Brighton, MA 02135
info@ntsad.org
http://www.ntsad.org
Tel: 617-277-4463 800-90-NTSAD (906-8723)
Fax: 617-277-0134
National Organization for Rare Disorders (NORD)
P.O. Box 1968 (55 Kenosia Avenue)
Danbury, CT 06813-1968
orphan@rarediseases.org
http://www.rarediseases.org
Tel: 203-744-0100
Voice Mail 800-999-NORD (6673)
Fax: 203-798-2291
SOURCE: National Institute of Neurological Disorders and Stroke
Kidney failure can occur from an acute event or a chronic condition or disease. Prerenal kidney failure is caused by blood loss, dehydration, medication. Some of the renal causes of kidney failure are from sepsis, medications, rhabdomyolysis, multiple myeloma, and acute glomerulonephritis. Post renal causes of kidney failure include bladder obstruction, prostate problems, tumors, or kidney stones. Treatment options included diet, medications, or dialysis.
High blood pressure, also known as hypertension, is a repeatedly
elevated blood pressure exceeding 140 over 90 mmHg -- a systolic pressure above
140 with a diastolic pressure above 90. There are two causes of high blood pressure, primary and secondary. Primary high blood pressure is much more common that secondary and its basic causes or underlying defects are not always known. It is known that a diet high in salt increases the risk for high blood pressure, as well as high cholesterol. Genetic factors are also a primary cause. Secondary high blood pressure is generally caused by another condition such as renal hypertension, tumors, and other conditions. Treatment for high blood pressure is generally lifestyle changes and if necessary, diet.
A stroke results from impaired oxygen delivery to brain cells via the bloodstream. A stroke is also referred to as a CVA, or cerebrovascular incident. Symptoms of stroke include: sudden numbness or weakness of the face, arm or leg. Sudden confusion, trouble speaking or understanding. Sudden trouble seeing in one or both eyes, sudden trouble walking, dizziness, or loss of balance, and/or sudden severe headache with no known cause. A TIA, or transient ischemic attack is a short-lived temporary impairment of the brain caused by loss of blood supply. Stroke is a medical emergency.
Heart attack happens when a blood clot completely obstructs a coronary
artery supplying blood to the heart muscle. A heart attack can cause chest pain, heart failure, and electrical
instability of the heart.
Heart disease (coronary artery disease) is caused by a buildup of cholesterol deposits in the coronary arteries. Risk factors for heart disease include smoking, high blood pressure, heredity, diabetes, peripheral artery disease, and obesity. Symptoms include chest pain and shortness of breath. There are a variety of tests used to diagnose coronary artery disease. Treatment includes life-style changes, medications, procedures, or surgery.
Genetic disease is a disorder or condition caused by abnormalities in a person's genome. Types of genetic inheritance include single inheritance (for example, cystic fibrosis, sickle cell anemia, Marfan syndrome, and hemochromatosis), multifactoral inheritance, chromosome abnormalities (for example, Turner syndrome, and Klinefelter syndrome), and mitochondrial inheritance (for example, epilepsy and dementia).
Your health care provider may refer you to a genetic professional. Universities and medical centers also often have affiliated genetic professionals, or can provide referrals to a genetic professional or genetics clinic. Genetic counseling provides patients and family members the tools to make the right choice in regard to test for a disease or condition.
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