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Fabry Disease

Know more about Fabry disease
Dr. Monika Bhanushali
Dr. Monika Bhanushali
August20/ 2016

Know more about Fabry disease:

Fabry disease is a genetic disease which is very rare. it is an X linked disorder. It means that it is associated with a defect in the X gene. It is mostly manifested in males as males have only one X gene where as in females will manifest the disease if both the X genes in their chromosomes are defective. Otherwise, the women having only one defective gene are said to be carriers of the disease.

What causes Fabry disease:

It is a lysosomal storage disorder. Lysosomes are pouches present in the cells which contain various enzymes to digest molecules which are large in size. If one of the enzyme is deficient then it will lead to inability of the cell to process that particular molecule. The concerned molecule accumulates in the cells eventually leading to its death. In this disease, there is defective metabolism of a lipid molecule known as sphingolipid due to deficiency of an enzyme known as alpha-galactosidase. As this enzyme is deficient, it leads to accumulation of sphingolipid in the cells. This eventually renders the cells unable to function normally. And its results in the death of the cells.

Following organs are most commonly affected:

  1. Skin
  2. Eyes
  3. Kidney
  4. brain
  5. heart
  6. gastro intestinal system

symptoms of the Fabry disease:

the spectrum of the Fabry disease symptoms is not specific and as it is a rare disease, it often leads to misdiagnosis. The symptoms are mostly manifestations of the deposition of sphingolipid in various organ systems. It may present with following symptoms:

  1. Skin: small and painless papules are very commonly seen on body especially around buttocks, belly button, groin etc.
  2. Decreased or increase in sweating
  3. Pain and burning sensation of the skin: there is full body pain or pain limited to hands and legs. pain in abdomen is also a common symptom.
  4. High blood pressure:
  5. There is decreased vision due to clouding of the cornea
  6. Ringing in the ears
  7. Joint pain
  8. Fatigue
  9. Nausea
  10. Diarrhoea
  11. Vertigo or dizziness

It can lead to following complications:

  1. Kidney failure
  2. Heart failure
  3. Increased risk of stroke or heart attack
  4. Thinning of the bones leading to increased tendency of fracture
  5. Cardiomyopathy

Diagnosis:

If a doctor suspects fabry disease from the spectrum of the presenting complaints, then Fabry disease testing is done with help of following tests.

  1. Enzyme essay: in this essay, the activity levels of the alpha-glucosidase enzymes are tested in white blood cells. Decreased levels of this enzymes clinches the diagnosis of Fabry disease.
  2. Genetic analysis: in females, as the enzyme levels might be normal, it is difficult to diagnose a female carrier with enzyme essay. So in females, the gene known as GLA gene testing is necessary to actually see the mutation in the GLA gene which confirms the diagnosis of Fabry disease.
  3. Kidney biopsy: with help of kidney biopsy the deposits of the sphingolipid in the kidney might be seen.

Treatment:

The only available and FDA approved method for the treatment of Fabry disease is Enzyme replacement therapy. The deficient enzyme is replaced in the body which lead to efficient breakdown of the sphingolipid so there is no accumulation of it in the cells.

Although there is no cure, with supportive treatments the disease is manageable.

Dr. Monika Bhanushali
Dr. Monika Bhanushali

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