Gaucher disease

Gaucher disease is a rare genetic condition that affects how the body breaks down certain fats. It happens when the body lacks enough of an enzyme called glucocerebrosidase (GCase), which normally helps clear fatty substances from cells. When this enzyme doesn’t work properly, fat builds up—especially in the spleen, liver, and bone marrow—affecting how these organs function.

The condition is caused by a mutation in the GBA1 gene and is inherited from both parents. While Gaucher disease can affect anyone, it is seen more often in people of Eastern European (Ashkenazi Jewish) descent. Common symptoms may include an enlarged spleen and liver, causing a swollen abdomen, bone pain, easy bruising, anemia and tiredness.

Although there is no cure, enzyme replacement therapy and oral treatments can help manage symptoms and significantly improve quality of life when started early.