“Hemophilia is one of the more common inherited types of bleeding disorders. Currently, about 20,000 individuals in the United States have hemophilia. Although hemophilia most commonly occurs in men, it can also occur in women.”
National Hemophilia Foundation
“Von Willebrand disease (VWD) is almost always inherited. “Inherited” means that the disorder is passed from parents to children though genes. You can inherit type 1 or type 2 VWD if only one of your parents passes the gene on to you. You usually inherit type 3 VWD only if both of your parents pass the gene on to you. Your symptoms may be different from your parents’ symptoms.”
NIH-National Heart Lung and Blood Institute
“Most people with MS are diagnosed between the ages of 20 and 50, with at least two to three times more women than men being diagnosed with the disease.”
Multiple Sclerosis Foundation
“MS symptoms are variable and unpredictable. No two people have exactly the same symptoms, and each person’s symptoms can change or fluctuate over time. One person might experience only one or two of the possible symptoms while another person experiences many more.”
National Multiple Sclerosis Society
“Multiple sclerosis (MS) is a potentially disabling disease of the brain and spinal cord (central nervous system).
MAYO CLINIC
“The disease can cause long-term difficulties in the kidneys, heart, and nervous system. It can be fatal.”
National Fabry Disease Foundation
The doctor may suspect Fabry disease if the patient has the associated signs and symptoms. If one of the patient’s relatives is found to have the disease, the physician will order a blood test to measure a-GAL A activity.
Screening females for Fabry disease is less simple. The blood test can be misleading, due to the random nature of X-inactivation. X-inactivation means that the faulty gene may be switched off, so the enzyme a-GAL A won’t be affected.
A chromosomal analysis of the GLA gene is more accurate than a blood test.
If excessive GL-3 buildup is detected, a kidney biopsy may help.
Controlling or preventing symptoms and complications is the main aim of treatment.
Episodes of pain are nearly always linked to certain triggers, such as exposure to heat, temperature changes, sun exposure, exercise, and fever. The patient must learn to avoid these pain triggers.
For patients with severe and frequent episodes of pain, the doctor may prescribe an anticonvulsant, such as carbamazepine (Tegretol, Tegretol XR, Equetro, Carbatrol) or diphenylhydantoin (Dilantin). They should be taken daily.
Enzyme replacement therapy (ERT) is a medical treatment that replaces an enzyme which is either absent or deficient in patients. In Fabry disease patients’ cases, the missing enzyme is alpha-galactosidase A (a-GAL A).
In the United States, Fabrazyme is the only ERT treatment approved by the U.S. Food and Drug Administration (FDA) for Fabry disease.
The producers, Genzyme Corporate, write on their website “The lowering of GL-3 suggests that Fabrazyme may improve how Fabry disease affects your body; however a relationship of lower GL-3 to specific signs and symptoms of Fabry disease has not been proven.”
The treatment has passed all clinical trials and its safety and effectiveness have been demonstrated. It is, however, expensive.
The other complications related to Fabry disease, such as skin, heart, kidney, and psychological problems are treated separately as they occur, by specialist doctors. For example, heart symptoms will be treated by a cardiologist.
“Fabry disease is a rare inherited disorder of lipid (fat) metabolism resulting from the deficient activity of the enzyme, alpha-galactosidase A (a-Gal A).”
National Organization of Rare Disorders
Fabry disease is a rare genetic disorder caused by a defective gene (the GLA gene) in the body. In most cases, the defect in the gene causes a deficient quantity of the enzyme alpha-galactosidase A. This enzyme is necessary for the daily breakdown (metabolism) of a lipid (fatty substance) in the body called globotriaosylceramide abbreviated GL-3 or GB-3. When proper metabolism of this lipid and other similar lipids does not occur, GL-3 accumulates in the majority of cells throughout the body. The resulting progressive lipid accumulation leads to cell damage. The cell damage causes a wide range of mild to severe symptoms including potentially life-threatening consequences such as kidney failure, heart attacks and strokes often at a relatively early age. Fabry disease is a progressive, destructive and potentially life-threatening disease. Fabry disease can affect males and females of all ethnic and cultural backgrounds.
Pain is one of the more common symptoms of Fabry disease, and is often one of the first symptoms people experience. There are two major types of pain associated with Fabry disease:
Pain – This pain can also be brought on by changes in weather, exposure to hot temperatures, stress, exercise, and/or fatigue.
Fatigue – Although the causes of fatigue in Fabry disease are not well understood, it is a common symptom of the disease. People with Fabry disease may need to manage their activity level and take frequent breaks.
Perspiring – Many people with Fabry disease either perspire very little (hypohidrosis) or not at all (anhidrosis). This can cause overheating, frequent fevers, and sensitivity to extremes in temperature. Impaired sweating is generally caused by damage to the nerves and sweat glands.
Exhaution – Some people with Fabry disease are unable to tolerate physical exertion, and may tire or become overheated even after mild activity. Physical exertion may also trigger episodes of pain. For these reasons, people with Fabry disease may need to modify their physical activities and/or avoid certain activities altogether.
Dark Red Skin Rashes – One of the most visible signs of Fabry disease is a reddish-purplish rash called angiokeratoma. This rash is characteristic of the disease, and may lead doctors to suspect Fabry disease. Angiokeratomas are generally located between the navel and the knees (doctors call this “bathing trunk distribution”), and sometimes in areas where the skin stretches, such as elbows or knees. Angiokeratomas usually appear during adolescence, and can become larger and more numerous with age.
Corneal whorling – This is another symptom. A starburst pattern on the cornea caused by GL-3 accumulation in the blood vessels of the eye. Corneal whorling can only be seen through a slit-lamp ophthalmoscopy exam. It typically does not affect vision.
Stomach problems – This can range from mild to severe. These disturbances may include pain after eating a meal, diarrhea, vomiting and nausea.
Heart Problems – As GL-3 accumulates over many years, progressive damage can occur to the tissues of the heart, as well as to those blood vessels that supply the heart. Heart problems due to Fabry disease may include:
Kidney Problems – After years of GL-3 build-up, problems with the kidneys can develop, and kidney function may become compromised. Kidney damage can become so severe that the kidneys do not function properly (renal insufficiency) or may fail (renal failure). Thus, GL-3 accumulation in the kidneys represents a major health risk for those with Fabry disease, and may be present in the absence of kidney disease symptoms. However, kidney problems are not unique to Fabry disease. Often, it is other signs and symptoms (like pain and angiokeratomas) that may lead a doctor to suspect Fabry disease.
Nervous system problems – Significant GL-3 accumulation can thicken small blood vessels in the brain. As a result, people may experience a number of symptoms including:
Hearing Problems – Hearing loss and tinnitus (ringing in the ears) may develop in adulthood.
Psychosocial problems – Often the difficult physical symptoms are only one of the challenges that people living with Fabry disease may face. They may also experience fear, depression, isolation, or guilt about passing the disease along.