متلازمة فابري (Fabry Syndrome)

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Fabry Syndrome

 

(Diseases)

This page provides comprehensive information about Fabry syndrome.

 

What is Fabry Syndrome?

  1. Fabry syndrome is a rare genetic disorder caused by a deficiency or significant absence of activity in a lysosomal enzyme that prevents the accumulation of fats in blood vessels and helps break them down. This leads to the buildup of fats in the body’s cells, causing multiple health problems, including cell deformities and dysfunctions in the skin, heart, kidneys, brain, and small blood vessels.
  2. Types of Fabry Disease:

 

Classic type: Appears during childhood or adolescence, with symptoms gradually increasing over time.

Late-onset type: Symptoms do not appear until the person reaches 30 years of age or older.

  • What Are the Symptoms of Fabry Syndrome?
  • Symptoms vary depending on the type of Fabry syndrome, and men tend to have more severe symptoms:
  • Numbness, burning, tingling, or pain in the hands or feet.
  • Severe pain during physical activity.
  • Heat or cold intolerance.
  • Cornea verticillata (vertical lines in the cornea) without affecting vision.
  • Dizziness.
  • Flu-like symptoms: fatigue, fever, and body aches.
  • Gastrointestinal issues: diarrhea, constipation, abdominal pain.
  • Tinnitus (ringing in the ears).
  • High levels of protein in the urine.
  • Dark skin lesions.

 

Reduced or excessive sweating.

Swelling (edema) in the legs.X.

  • What Causes Fabry Syndrome?
  • Fabry disease is an X-linked inherited disorder:

 

If the father has Fabry syndrome, all his daughters will inherit the disease, while his sons will not.

If the mother has Fabry syndrome, there is a 50% chance of passing the disease to any of her children, regardless of gender.

  • How Is Fabry Syndrome Diagnosed?
  • The doctor takes a medical history and performs a physical examination. Additional tests may include:

 

Genetic blood test: to identify the gene mutation.

Enzyme test: to measure enzyme activity in the blood.

  1. How Is Fabry Syndrome Treated?
  2. There is no definitive cure, but symptoms can be managed with various treatments, which may include:

 

Enzyme replacement therapy (ERT): Administered intravenously every two weeks to replace the missing enzyme and prevent fat accumulation.

Oral medications as needed.

 

How Can Fabry Syndrome Be Prevented?

Since Fabry syndrome is inherited, If you have a family history of Fabry syndrome or carry the gene testing, seek genetic counseling, and assess the risk of passing the disease to their children.

  • What Are the Complications of Fabry Syndrome?
  • Complications vary among affected individuals and may include:
  • Kidney failure.
  • Stroke.
  • Heart problems.

 

Blood vessel damage.

Peripheral neuropathy.

 

When Should You See a Doctor?

 

Consult a doctor if you develop any of the above symptoms or if you carry the Fabry gene.

Frequently Asked Questions:

 

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