Fabry's disease: what is it

What Is Fabry Disease? (Health And Medical Video July 2018).

Fabry's disease is a rare genetic disease that results in the absence of a lipid-splitting enzyme. The disease can negatively affect the kidneys, eyes, autonomic nervous system and cardiovascular system.

Fabry's disease was first discovered in 1898 by two doctors who worked independently: William Anderson in England and Johann Fabre in Germany. The Fabry disease gene is associated with the X-chromosome, so women can be carriers of the disease, but do not hurt them.

Causes of Fabry's disease

Fabry's disease is due to a genetic mutation in the X chromosome. The mutation causes a deficiency of alpha-galactosidase, an enzyme necessary to cleave lipids.

If the enzyme is absent or non-active, lipids accumulate in the blood vessels, the nervous system that affects the heart, eyes and kidneys, and can lead to visual impairment, heart attacks and strokes.

Symptoms of Fabry's disease

Symptoms of Fabry's disease may vary by age and sex. The earliest signs that appear in children and adolescents are angiokerastomas - small red-purple spots on the skin.

Also symptoms of Fabry's disease:

  • Inability to sweat;
  • Gastrointestinal problems (pain, diarrhea, increased gas formation);
  • Recurrent nausea and vomiting;
  • Headaches and bells in the ears;
  • fever.

In men, Fabry's disease manifests itself in burning pain in the hands and legs, angiokeratos (mainly on the thighs and in the lower abdomen), clouding of the cornea and the lens of the eye.

Since the disease affects the kidneys, the symptoms are also frequent complaints of back pain, in the kidney.

In women, carriers of the disease Fabry disease can either not be detected at all, or have the same symptoms as men.

Treatment of Fabry disease

Currently, Fabry's disease is not treated, but use supportive care. First of all, it is aimed at relieving pain: anticonvulsants, medicines fighting vomiting and gastrointestinal symptoms, drugs that slow down the progression of cardiac and renal insufficiency.

Patients with Fabry's disease in severe cases do dialysis, and sometimes kidney transplantation or heart.

The latest advances in science in the treatment of Fabry's disease are drugs that effectively replace the missing enzyme. They slow down the progression of the disease, stabilize the function of the kidneys, reduce the effects on the cardiovascular system, relieve neuropathic pain.

But such treatment is not suitable for everyone, but only for those who have been diagnosed with the disease at an early stage. Scientists continue to work on treatment options, putting great hopes on gene therapy.

Prevention of Fabry disease

Since the gene mutation in Fabry's disease occurs in the X chromosome, men who have one X and one Y chromosome, having inherited it, always suffer, but women who have two X-chromosomes can be carriers without any -what of the symptoms?

The only method of preventing Fabry disease is genetic testing.

Fabry's disease: what is it

Category Of Medical Issues: Diseases

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