Gaucher disease (pronounced go-SHAY) has a wide variety of symptoms. You may be relatively symptom-free, or you may experience more severe symptoms.
If you or a family member has Gaucher disease, know that many people live full lives thanks to advances in Gaucher disease treatment.
Prognosis of Gaucher Disease
Physicians divide Gaucher disease into 3 distinct types based on the amount of neurological (brain stem) involvement. Neurological involvement plays a key part in the prognosis and life expectancy of patients with Gaucher disease.
Gaucher disease type 1 prognosis
Gaucher disease type 1 is the most common form of the disease in the United States and Europe, particularly among Jews of Ashkenazi (Eastern European) descent. The disease can vary from mild to severe, depending on specific causes, from person to person. Symptoms may not appear until adulthood or at all.
Gaucher disease type 1 causes symptoms and complications such as:
- Swollen belly due to enlarged spleen and/or liver
- Bone problems such as easily fractured bones, early onset osteoporosis and severe arthritis
- Easy bruising and fatigue due to anemia (low platelet and low red blood cell counts)
Gaucher disease type 1 also brings an increased risk of certain cancers and Parkinson disease. Learn more about Gaucher disease and associated conditions.
The good news is that proactive treatment can prevent or improve signs and symptoms, also reducing the risk of irreversible tissue and organ damage. Enzyme replacement therapy for Gaucher disease and substrate reduction therapy (oral medication) for Gaucher disease now allow many patients to live full and active lives. Learn more about Gaucher disease type 1 and Gaucher disease treatment.
Gaucher disease type 2 prognosis
Gaucher disease type 2 is a rare form of the disease. It involves severe neurological problems and also affects the organs that are involved in type 1. Because of the devastating brain damage, Gaucher disease type 2 is typically fatal within the first 2 years of life.
While Gaucher disease type 2 is currently untreatable, researchers continue to look for answers. Learn more about Gaucher disease type 2.
Gaucher disease type 3 prognosis
Gaucher disease type 3 is fairly rare in the United States, but it is the most common form of the disease worldwide. Type 3 has a later and more gradual onset than type 2, and symptoms usually appear in childhood. Symptoms resemble those of Gaucher disease type 1, with the addition of slowly progressing neurological problems.
Neurological symptoms may include:
- Abnormal eye muscle movements
- Trouble with coordination
- Mental deterioration
Patients with Gaucher disease type 3 have a shorter lifespan, but treatment helps some patients with relatively mild neurological involvement live into their 50s. Researchers are investigating new drugs capable of crossing the blood-brain barrier, which acts to protect the brain but also filters out medications. If scientists are successful, it’s possible that the prognosis will improve for type 2 and type 3 patients. Learn how Gaucher disease treatment can help, or find out more about Gaucher disease type 3.
Living Well With Gaucher Disease
Left untreated, Gaucher disease can cause permanent damage to your body and even shorten your life. The good news is that Gaucher disease treatment can allow you to live a full and active life.
The most important part of optimizing your health with Gaucher disease is seeing a Gaucher specialist. Because the disease affects just 1 in 40,000 in the general population, many general practitioners and even specialists have never managed a patient with Gaucher disease. A specialist can help:
- Create a comprehensive evaluation plan to determine your treatment needs and help set individualized treatment goals that are both realistic and meaningful.
- Manage your symptoms with an individualized treatment plan. Your treatment plan should include tracking key health indicators like blood counts, spleen and liver volume, bone density and health-related quality of life.
- Coordinate your care with your primary care physician and other specialists such as radiologists, orthopedists and pain management experts.
- Proactively monitor for conditions related to Gaucher disease.
Learn more about Gaucher disease and associated conditions.