Fabry Disease
Women with Fabry disease typically have milder symptoms that often go unnoticed.

Fabry disease is a rare genetic disorder due to the accumulation of fat called globotriaosylceramide in the cells.

  • People with Fabry disease do not have the functional enzyme (alpha-galactosidase A or alpha-gal) that helps break down the fatty substance called globotriaosylceramide.
  • This cellular buildup of fat results in altered cell functioning leading to the various signs and symptoms of Fabry disease.

What are the common symptoms of Fabry disease?

The symptoms of Fabry disease are different between people. Symptoms may range from mild to severe and could be life-threatening. Women with Fabry disease may have milder symptoms than men, whereas some may not have any symptoms. Nonetheless, many women with this disease may have severe manifestations.

Common signs and symptoms of Fabry disease include:

Eight symptoms of Fabry disease in women

The disease is more common in men than in women. In the same way, symptoms are more common and severe in men. In women, the symptoms could be mild and, sometimes, unnoticeable.

  1. Kidneys: Kidney failure is one of the major causes of early death in men. However, this typically does not occur in women. This fat accumulation may result in the narrowing of blood vessels, which may lead to kidney damage. The signs of kidney damage may include swelling in the legs, ankles, and feet.
  2. Skin: The symptoms or changes in the skin due to Fabry's disease may vary. In men, tiny dark red spots are seen, especially between the belly button and the knees. They do not cause any harm. However, women rarely have skin lesions in their genital areas.
  3. Central nervous system: The disease can affect the brain including its blood supply. 
  4. Heart: The symptom may include irregular heartbeat. There could be other cardiac abnormalities, such as valve disease and enlarged heart (cardiomegaly).
  5. Digestive system: In people with Fabry disease, digestive problems generally start from childhood. You may have loose stools very often. Other symptoms include bloating, abdominal cramps, nausea, and vomiting. In women, the symptoms are almost similar to those of irritable bowel syndrome.
  6. Eyes: Cloudy, hazy streaks appear in the eyes (cornea). This typically does not affect vision.
  7. Ears: You may hear ringing sounds in the ears (tinnitus). Over a while, the symptoms may worsen, leading to hearing louder sounds or developing hearing loss.
  8. Sweat glands: Decreased sweating or a complete absence of sweating. This makes the person feel uncomfortable and increases the body temperature.

What is Fabry disease?

Fabry disease is also called Anderson-Fabry disease. It is a rare genetic disease (X-linked condition). It can cause severe life-threatening complications. The signs and symptoms usually start appearing in early childhood.

Fabry disease is caused by a defective gene that leads to a shortage or complete absence of an essential enzyme that helps break down lipids or fats. Lack or absence of this enzyme results in the buildup of the fatty substance (globotriaosylceramide) in the body cells and causes damage to the:

  • Heart
  • Liver
  • Kidneys
  • Central nervous system
  • Skin

The overall prevalence of Fabry disease is 1 in 1,000 to 9,000 people. Its prevalence in females is not known since many have mild to asymptomatic manifestations. One out of every 40,000 men has classic Fabry disease where the symptoms appear early (during childhood or teenage). The late-onset Fabry disease (where symptoms appear at age 30 or older) is more common, affecting one in 1500 to 4000 males.

2 types of Fabry disease

  1. Type I (classic type): Appears in early childhood or teenage years. The symptoms are painful sensations in the hands and feet. It is less common than type II or late-onset Fabry disease.
  2. Type II (later onset type): A person may have a normal childhood without any symptoms, and the symptoms begin after 30 years. The first symptom could be related to kidney or heart disease.

How is Fabry disease diagnosed?

A few tests done to diagnose Fabry disease include:

  • Enzyme assay: This test measures alpha-gal enzyme levels. Levels equal to or lower than one percent indicate the disease. This is more reliable in men than in women. This test is not recommended for women.
  • Genetic testing: The genetic test is done to determine the faulty gene that results in Fabry's disease.
  • Newborn screenings: Some tests are done in newborns to diagnose Fabry disease and other lysosomal storage disorders. In addition, an enzyme assay test for alpha-gal is done as a part of newborn screenings.

How is Fabry disease treated?

There is no one treatment for Fabry disease. A few medications for pain and digestive problems may ease the symptoms.

However, two treatment options help decrease the accumulation of fatty substances in the cells and protect the kidney, heart, and liver from damage. The treatment options include:

  • Enzyme replacement therapy: This therapy includes the infusion of lab-made enzymes. These lab-made enzymes replace the alpha-gal enzymes, prevent the buildup of fatty substances in the cells and help protect the kidneys, liver, brain, and heart from damage.
  • Oral chaperone therapy: Chaperones are the small molecules that deal with the faulty alpha-gal enzyme. These repair enzymes help break down the fatty substance. Your eligibility for this treatment depends on the specific mutation that occurs in the alpha-gal enzyme gene.

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Medically Reviewed on 10/12/2022
References
Image Source: iStock image

Symptoms of Fabry Disease. https://www.webmd.com/children/fabry-disease-symptoms

Fabry Disease. https://my.clevelandclinic.org/health/diseases/16235-fabry-disease

Fabry disease. https://medlineplus.gov/genetics/condition/fabry-disease/#causes