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Glossary for Gaucher disease type 3

  • Abdominal swelling: Swelling or bloating of the abdomen
  • Anemia: Reduced ability of blood to carry oxygen from various possible causes.
  • Easy bruising: Where one bruises with minimal trauma to the skin
  • Enlarged liver and spleen: Enlargement of both liver and spleen (hepatosplenomegaly)
  • Fatigue: Excessive tiredness or weakness.
  • Fractures: Fracture of a bone; also "broken bone".
  • Hypersplenism: A condition which is characterized by the exaggeration of blood degrading function of the spleen
  • Infection: Infections as a symptom.
  • Necrosis: Tissue death as a symptom
  • Osteoporosis: Bone thinning and weakening from bone calcium depletion.
  • Pain: A feeling of suffering, agony, distress caused by the stimulation of pain fibres in the nervous system
  • Portal hypertension: Portal hypertension may be defined as a portal pressure gradient of 12 mm Hg or greater and is often associated with varices and ascites.
  • Skin pigmentation: The occurrence of pigmentation that is located in the skin
  • Sphingolipidosis: A group of diseases involving the abnormal metabolism and storage of a substance called sphingolipid. Symptoms will vary depending on the disease. Examples of diseases from this group include gangliosidosis, Gaucher's disease and Niemann-Pick disease.
  • Thrombocytopenia: Decreased platelets in the blood


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