Symptoms of Gaucher disease often mimic other diseases, and many people are misdiagnosed or assume they have already been tested. If you have been diagnosed with Gaucher disease type 1, treatment approaches are available to manage the disease, including oral medicine.
Gaucher disease is a lifelong condition with diverse symptoms. The age of onset and severity of disease are unpredictable due to Gaucher's progressive course.
Accumulation of Gaucher cells in the bones and spleen can interfere with the production of blood cells:
Gaucher cells can build up in bone marrow, crowding out the cells that build up bone mass. This makes it hard for essential bone minerals, such as calcium and phosphorus, to strengthen bones and keep them in good shape. With Gaucher disease, bones may become thinner and weaker than usual, causing pain, and may break or fracture easily.
94% of patients with Gaucher disease type 1 have clinical or radiologic evidence of bone disease, including:
Your bones may be affected even if you are not feeling bone pain.
Ignoring the signs and symptoms of Gaucher disease can lead to a diagnostic delay of up to 10 years.
Gaucher disease is progressive and may lead to:
CareConnectPSS® provides education and support for patients and their families affected by Gaucher disease.Learn more about this offering