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FABRY’S DISEASE (FD)

Men's Health, Nervous System Diseases, Skin Conditions, Women's Health / By

FABRY’S DISEASE (FD)

Fabry’s disease is a rare genetic disorder that affects many parts of the body including the skin, eyes, gastrointestinal system, heart, brain, kidney, and nervous.

  • In Fabry’s disease, a certain type of fatty substance builds up in the body.
  • It is a progressive, destructive condition and can be life-threatening. It is more common in men than in women.
    There are 2 types of Fabry’s disease, type 1 FD and type 2 FD
  • Type 1 also known as Classic Fabry’s disease starts at childhood, and is estimated to affect 1 in every 40 to 60,000 males. This type is less common than type 2.
  • Type 2 also known as Later-onset Fabry disease can occur as frequently as in 1 in 1,500 to 4,000 males.

CAUSES

Fabry’s disease is caused by a defective gene (the GLA gene) in the body. In most cases, the defect in the gene causes a shortage or deficient quantity of an enzyme called alpha-galactosidase A (a-GAL A), responsible for the daily breakdown of a lipid in the body called globotriaosylceramide (GL-3). A fault or mutation in the GLA gene causes a poor breakdown of GL-3 and other similar lipids, resulting in harmful accumulation in the majority of cells throughout the body, and simultaneously leading to cell damage. The degree of damage caused by the condition depends on the severity of the mutation in the GLA gene

In Fabry’s disease, the defective gene is on the X chromosome, which is one of the two sex chromosomes. Females have two X chromosomes (XX), and males have one X chromosome and one Y chromosome (XY). Fabry’s disease is usually seen in males who receive one X chromosome with the abnormal gene. Females with the condition also receive one X chromosome with the abnormal gene, however, since females have two X chromosomes, the normal chromosome serves as protection against developing the disorder. Females who inherit the defective X chromosome are called carriers and they may pass the mutation to their male children.

SYMPTOMS

  • Cloudy vision
  • Hearing loss
  • Ringing in the ears
  • Decreased ability to sweat
  • Pain and burning in the hands and feet that may worsen with exercise, fatigue, hot weather, and fever.
  • Problems with the gastrointestinal system
  • Abdominal pain, bowel movement after eating.
More serious problems can also occur, such as:
  • Heart failure
  • High blood pressure
  • Kidney failure
  • Higher chance of heart attack or stroke
  • Enlarged heart
  • Osteoporosis
  • Lung disease

DIAGNOSIS AND TREATMENT

Fabry’s disease can be difficult to diagnose because the symptoms are similar to those of other diseases and can affect so many different parts of the body. To make a diagnosis, the doctor may need to:

  • Order a blood test to measure the level of alpha-galactosidase.
  • A genetic test for the defective gene

For families with a known history of the condition, prenatal tests can be performed to determine if a baby has it.

TREATMENT

The most common treatment option is enzyme replacement therapy (ERT) that replaces the missing enzyme. This allows your body to properly break down the fatty substances the way it should and ease the pain and other symptoms associated with the condition.

Pain management for patients with severe and frequent episodes of pain. Anticonvulsant may be prescribed.

The other complications related to the disease such as skin, heart, kidneys are treated separately as they occur, by specialists.

Dialysis and a kidney transplant may be needed if Fabry disease has resulted in severe kidney damage.