Fabry Disease

Fabry Disease General Information

Fabry Disease is described as the lack of the necessary enzyme that metabolizes fat substances, such as waxes, oils or fatty acids, known as lipids. The enzyme that has the most important role in this process is called alpha-galactosidase-A or ceramide trihexosidase. Fabry Disease is caused by a mutation that occurs in the gene that is responsible with controlling the production of this enzyme. This leads to insufficient lipid breakdown that usually accumulate in dangerous levels in the cardiovascular system, eyes, autonomic nervous system and kidneys. The gene that is affected is found on the chromosome X of the mother. This is why this genetic disorder represents an inherited lysosomal storage disease that is known to be X-linked recessive. The sons born by the mother present a risk of 50% of inheriting this medical condition, while the daughters have 50% chances to be healthy carriers of this disorder. But the signs and symptoms of Fabry Disease may also manifest in those women who simply carry the mutation of the gene. The name of this medical condition comes from the man who first detected it, Johannes Fabry. People call this medical disorder under different names and some of them are: angiokeratoma corporis diffusum, Alpha-galactosidase A deficiency, hereditary dystopic lipidosis, ceramide trihexosidase deficiency, angiokeratoma diffuse, Sweeley-Klionsky disease or GLA deficiency. This disease is a serious one because the signs and symptoms are numerous and various and may sometimes evolve from mild to severe and even to life threatening. The patients must look for professional support at once. Luckily, there are many medical centers that provide patients with appropriate medical care.

Fabry Disease Symptoms

The signs and symptoms specific for Fabry Disease start in the patient’s childhood with sensations of burning of the hands that usually get worse when the weather is hot or after intense exercise. Another symptom is the appearance of blemishes on the skin that can be characterized as raised and with a reddish-purple color. When the lipids store on the eye, the patient may complain of cloudiness of the cornea as well as of other manifestations of the eye. Heart problems are very common when dealing with this type of medical condition. Usually, the problems with the cardiovascular system aggravate progressively with age. The accumulation of lipids damages the tissues and the blood vessels that supply the heart with blood and also increases the risks of strokes or heart attacks because it causes an impaired circulation of the arteries. But the storage of lipids in the blood vessels not only affects the cardiovascular system, but also the nervous system. The small blood vessels from the brain get thicker and the signs and symptoms are: head pain, dizziness, weakness, numbness and even stroke. Due to lipid storage, the kidneys are progressively involved, the problem of malfunctioning heart valves can also become present, the heart becomes larger and irregular beats of the heart may be felt. The functions of the kidneys may be impaired; renal insufficiency and renal failure are signs that Fabry Disease is worsening. Gastrointestinal problems may represent a matter of complaint of many patients. They can accuse stomach problems, nausea and vomiting, diarrhea or pain.

Fabry Disease Treatment

If you know you are a carrying mother of the genetic mutation that causes Fabry Disease and you are pregnant, you should inform your health care provider. He may want to consult with a gynecologist who might order a prenatal diagnosis. This is possible through samples of chorionic villi and amniocentesis. After the child is born, the diagnosis in boys is put after a physical examination and the presence of the rash along with other signs and symptoms specific for this genetic disorder. You must go with your child as soon as possible to a medical check because if it is left untreated, this medical condition can easily cause the death of your child by the complications that usually develop (for example kidney or heart failure and other major problems that involve the heart or the brain and are caused by some vascular diseases or by the high pressure of the blood). You must know that this genetic disorder can be treated. However, the costs are significantly high. Nowadays, against Fabry Disease, a specialist uses a treatment based on enzyme replacement that has major effects owing to the fact that slows the progression of the disease. The therapy at the cellular level uses two drugs: agalsidase alpha prescribed as Replagal and agalsidase beta prescribed as Fabrazyme®. Until this method was discovered, treatments for this medical condition were targeting only the symptomatic effects. Although these new recent drugs are very efficient and have really positive effects, their cost is not only problematic, but unreachable for some patients. A therapy may be even 200,000 US per year for a single patient and this is why, in some poor countries this is an important barrier.

In some cases, to treat Fabry Disease, the doctors can use the enzyme replacement procedure, which is considered to be effective, and acts by slowing the progression of the disease. This procedure can be done by the patient at home. It is not considered a cure and has to be infused recurrently to be fully effective. Usually, to relieve pain in the hands and feet, doctors can recommend the anticonvulsants such as phenytoin and carbamazepine. The gastrointestinal hyperactivity of the disease is usually treated with metoclopramide. There are patients who require dialysis or kidney transplantation to treat the Fabry Disease. The pain can also be relieved by administrating analgesics, opioids. The episodes of pain can appear from stress, exposure to the heat or sun, physical exertion and fever. The medications for pain relief are taken daily to prevent the pain and reduce the severity of the painful attacks. There is a way to prevent the pain, which consists in stopping (refraining) from smoking, and in case the patient follows a treatment trial with mitral valve prolapse or prophylactic antibiotics when undergoing surgeries. There is a treatment trial for Fabry Disease complications, which consists in a low sodium and low protein diet. It is very important to see the doctor every week after the beginning of the clinical treatment, to monitor the progress of the disease.