Are you of Jewish ancestry and bruise easily? You could have a genetic disorder.

Gaucher disease and Jewish Ancestry, Health Network News

Gaucher disease Type 1 can occur anytime from childhood to adulthood

SUMMARY: The genetic disorder Gaucher disease causes problems making red blood cells, bleeding issues, bone pain, & enlarged liver/spleen. Good treatment options exist.

Gaucher disease (pronounced go-SHAY) is a genetic disorder that affects many tissues and organs in the body and is the most common disorder of people of Jewish ancestry.

Patients with Gaucher disease do not make enough of the enzyme glucocerebrosidase (GCase) which breaks down glucocerebroside, a down a fatty chemical in the body. As a result, glucocerebroside builds up in the bone marrow and organs, causing physical problems.

The most common variant of the disease, Type 1 Gaucher disease is found in 95% of the cases in western countries. In this disease type, the brain and central nervous system are not affected like they are in the more serious Types 2 and 3 Gaucher disease.

What are the signs and symptoms of Type 1 Gaucher disease?

Problems making blood cells normally

Due to the accumulation of Gaucher cells in the spleen and bone marrow, the body cannot make effectively make blood cells. Patients with Type 1 Gaucher disease may experience:

  • Low platelet counts, which can cause easy bruising and bleeding issues.
  • Low red blood cell counts, also known as anemia, that can cause shortness of breath and fatigue.

Issues with blood clotting

The low numbers of platelets in Gaucher disease patients can prevent normal blood clotting. Patients may experience:

  • Frequent nosebleeds
  • Prolonged bleeding after surgery or dental work
  • Bleeding gums
  • Severe bleeding after childbirth
  • Less common is serious brain, urinary, gynecologic, or gastrointestinal bleeding

Bone problems

These problems include:

  • Bone pain
  • Easy bone breakage

Liver and spleen enlargement

In Gaucher disease patients, excess glucocerbrosides can accumulate in the liver and spleen, causing enlargement. These disorders manifest with:

  • Difficulty eating a full meal
  • Swollen, painful belly

How is Type 1 Gaucher disease treated?

There are two main types of treatment for Gaucher disease. These are:

Substrate reduction therapy (SRT)

This is the newest type of treatment for Gaucher disease. SRT is an orally-administered medicine that decreases the amount of glucocerebroside made by the body. Having less glucocerebroside in the body means that the excess buildup of this substance is reduced.

Enzyme replacement therapy (ERT)

ERT is the administration of the GCase enzyme with an IV on a regular basis, usually twice a month. The enzyme can be administered either at home or in an infusion center.

What is the prognosis for people with Type 1 Gaucher disease?

Withe proper treatment and medical management of the disorder, patients can live with an excellent quality of life well into old age. The key to health is proactive management that prevents permanent damage to the body from the disorder.

FROM THE HHN EDITORS: Gaucher disease Type 1 can occur at any age. If you think you may have Gaucher disease, it is important to discuss your symptoms with your doctor. People who test positive for the disorder must be seen by a specialist as most family doctors do not have experience with the disease. The National Gaucher Foundation offers a treatment finder on their website to help locate a specialist.

Resources: For more information, please see the National Gaucher Foundation and the National Institute of Health Genetics Home Reference websites.

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