Gaucher disease is a genetic condition that is often misunderstood and rarely discussed. Despite its reputation, modern treatments are highly effective, allowing most patients to live healthy, normal lives.
Even after four decades of experience with enzyme therapy in Israel, Gaucher disease is still relatively unknown to the general public, and many families encounter it for the first time only after a long diagnostic journey. The disease is caused by a deficiency of the glucocerebrosidase enzyme. According to long-term cohort data from Israel, approximately one in 800 Ashkenazi Jews may be affected, and about one in 17 may be carriers. “In Israel, Gaucher disease is the most common genetic disease among Jews of Ashkenazi descent, but it can also affect other populations,” says Dr. Sharon Bratman-Morag, head of the Gaucher Clinic at Rambam Health Care Campus (Rambam).
Gaucher disease is usually diagnosed in childhood and is classified into three main types:
- Type 1 is the most common form in Israel. Its onset can occur at any age, and it typically does not affect the central nervous system.
- Type 2 has its onset in infancy, causes severe neurological damage, and is usually fatal in early childhood.
- Type 3 is characterized by gradual and progressive neurological damage, unlike the rapid progression seen in type 2.
"Patients often remain undiagnosed for years because clinical manifestations may be subtle or entirely absent," explains Dr. Bratman-Morag. "Indicators include discovering an enlarged spleen during a routine examination for fever or infection, unexplained bleeding following dental procedures, or a positive family history."
Screening typically involves a simple blood or saliva test to detect carrier status. "Gaucher manifests when both parents are carriers, in which case testing offspring is recommended," notes Dr. Bratman-Morag. "Early diagnosis is critical, as timely treatment supports normal growth and preserves bone health."
Type 2 and Type 3 Gaucher disease are included in the Israel Ministry of Health carrier-screening panel for couples planning pregnancy.
For years, physicians considered Gaucher untreatable until enzyme replacement therapy (ERT) was developed in the United States. Initially unavailable in Israel, it eventually arrived at a cost of around $10,000 per treatment—beyond the reach of most families.
The Israel Gaucher Patients Association, co-founded by leading Gaucher expert, Professor Ari Zimran of Shaare Zedek Medical Center and supported by the pharmaceutical company that developed ERT, led a national campaign to include the treatment in Israel’s public health basket; today treatment costs are covered.
Standard ERT is administered intravenously every two weeks, with each session lasting about an hour. With consistent therapy, bones are strengthened, the liver and spleen shrink, and blood count improves, helping children resume normal growth. An oral therapy—substrate reduction therapy (SRT)—is available to adult patients, but not currently recommended for younger children or for women before pregnancy.
Historically, untreated patients often developed significant physical disabilities, but with modern therapies, most patients—including those with type 1 Gaucher—show no visible signs of the disease.
"Many patients with type 1 are asymptomatic and don’t require treatment,” says Dr. Bratman-Morag, “For those who do need therapy and receive it consistently, we do not expect a reduction in life expectancy or overall quality of life.”
Using multiple treatment modalities, Rambam's Gaucher Clinic provides counseling, monitoring, and long-term multidisciplinary care for children and adults living with Gaucher disease. As awareness grows, the clinic’s team continues to emphasize that early diagnosis and open conversation can make a significant difference for patients and their families.
Based on an original Hebrew article that first appeared in the printed magazine Betoch HaMishpacha.
