What are the symptoms of Gaucher Disease?
The most common symptoms of Gaucher Disease include:
Gaucher disease symptoms involving the blood and organs include:
Enlarged spleen and liver: 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 the 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 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 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.
Neurological (brain stem) symptoms and signs of Gaucher disease are present only in patients with Type 2 or Type 3 Gaucher disease. These Gaucher disease signs and symptoms can be severe and may cause early death. Learn more about Gaucher disease Types 2 and 3.