Fabry's Disease

Christian Foy

Fabry's Disease Definition

Fabry disease is a rare genetic lysosomal storage disease, inherited in an X-linked manner. Fabry disease can cause a wide range of systemic symptoms. It is a form of sphingolipidosis, as it involves dysfunctional metabolism of sphingolipids. The disease is named after one of its discoverers, Johannes Fabry.

Symptoms

Most common symptoms are:

  • Pain and burning sensations in the hands and feet—often worse during exercise, fatigue, or fever
  • Spotted, dark reddish-purple skin lesions between the belly button and the knees
  • Decreased sweating
  • Vision problems
  • Hearing loss
  • Delayed puberty or delayed growth

As adults, males may have the following complications due to blood vessel blockage:

Causes

Fabry disease is caused by low levels of an enzyme called alpha galactosidase-A. This enzyme is needed to break down fatty substances. The specific genes that create the enzymes are faulty. The faulty gene is inherited from the parents.

Males who inherit the defective gene will have the disease. Females who have a single copy of the gene are called carriers. Most will not develop any symptoms, but they can pass the gene to their offspring. However, some women do have symptoms. On occasion, women may be as severely affected as men.

Treatment

There is no cure for Fabry disease. There is a medication to treat the condition.

The medication works as an enzyme replacement. It is given through an IV at regular intervals.

Treatment may also involve other medications to reduce symptoms such as:

  • Pain medications—may be over-the-counter or prescription


Medications to treat stomach hyperactivity:

  • Blood thinners and medication to manage arrhythmias and other heart disorders


Diagnosis

You will be asked about your symptoms and medical history. A physical exam will be done. Diagnosis is usually made based on the symptoms listed above. A test to measure the alpha galactosidase-A enzyme or DNA test can confirm Fabry disease.
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Facts about Fabry's Disease

What I Discovered

Fabry disease is caused by low levels of an enzyme called alpha galactosidase-A and that there is no treatment for Fabry's Disease but that there is medication to help you cope with having the disease.