The signs and symptoms of Gaucher disease (pronounced go-SHAY) often vary from person to person. While you may experience severe symptoms & signs, it is also possible to have no symptoms or signs at all. Treatment can reduce symptoms and signs and prevent irreversible damage to your body.
What Causes Gaucher Disease?
People with Gaucher disease have low levels of glucocerebrosidase (GCase), an enzyme that breaks down a fatty chemical in the body called glucocerebroside. Gaucher cells are normal scavenger cells called macrophages that become full of unprocessed glucocerebroside. Gaucher cells accumulate primarily in the spleen, liver and bone marrow, causing organ inflammation and dysfunction.
Symptoms and Signs of Gaucher Disease
Blood and organ symptoms and signs
Gaucher disease symptoms and signs involving the blood and organs include:
- Spleen and liver enlargement: When Gaucher cells build up in the spleen and/or liver, these organs become enlarged and can cause your belly to become swollen and painful.
- Low platelet count: A normally functioning spleen disposes of old blood cells. A spleen enlarged by Gaucher disease destroys blood cells too rapidly, including platelets that are responsible for clotting even after minor injuries.
- Bleeding and clotting problems: With fewer platelets, patients with Gaucher disease can have bleeding issues. Low platelet counts can cause problems like frequent nosebleeds, gum bleeding and easy bruising. Low platelets can also result in more serious bleeding problems, particularly after dental work, surgery, trauma and delivering a baby.
- Anemia: Gaucher cells in bone marrow reduce production of blood cells, and the spleen quickly destroys blood cells the body does make. These processes can cause anemia, or low levels of red blood cells that carry energy-producing oxygen to all parts of the body. Patients can also become anemic for other reasons such as iron deficiency or vitamin B12 deficiency. A Gaucher specialist can help you understand and address anemia problems.
- Fatigue: Anemia causes fatigue, and it’s common for patients with Gaucher disease to experience excessive tiredness. However, not all fatigue in Gaucher disease is due to anemia.
- Lungs: In some cases, glucocerebroside may accumulate in the lungs, causing respiratory problems.
Bone symptoms and signs
Bone problems are common in people with Gaucher disease. With early treatment, you can minimize any permanent harm to your bones and joints.
Gaucher disease symptoms and signs affecting the bones include:
- Bone pain and bone crisis: Patients often experience bone pain, including severe episodes called “bone crisis” resulting from reduced blood flow to the bones.
- Bone infarction or avascular necrosis (AVN): This condition occurs when parts of the bone don’t get enough oxygen, causing bone tissue to deteriorate and die. Bone infarction often leads to hip or shoulder problems, severe arthritis and increased fracture risk.
- Osteopenia and osteoporosis: Gaucher disease causes loss of calcium and mineral content in the bones (osteopenia and osteoporosis) in male and female patients of all ages. Smoking, excessive alcohol use, lack of physical activity and certain medications can add to the risk of osteoporosis in patients with Gaucher disease.
- Spontaneous fractures: Osteopenia (bone loss) and osteoporosis weaken the bones, making them more likely to break. Bone fractures in patients with Gaucher disease can occur even without trauma.
- Joint pain, arthritis and joint damage: It is common for patients with Gaucher disease to experience joint pain. Gaucher disease can cause severe arthritis and joint damage, which can be permanent if the disease is untreated.
Gaucher disease treatment is key to avoiding permanent damage to your body. Testing for Gaucher disease involves a blood test called a beta-glucosidase leukocyte (BGL) test to determine enzyme levels in your body. If you are at risk or experiencing symptoms, ask your doctor about getting tested.
Neurological signs and symptoms
Neurological (brain stem) symptoms and signs are present only in patients with type 2 or type 3 Gaucher disease. These symptoms and signs can be severe and may cause early death. Learn more about Gaucher disease types 2 and 3.
Conditions Related to Gaucher Disease
Research shows that patients with Gaucher disease may be at increased risk of developing other conditions later in life, usually after age 50. These include:
- Parkinson disease
- Some cancer types, including liver cancer and myeloma (a blood cancer)