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Glossary for Gaucher disease type 1

  • Abdominal swelling: Swelling or bloating of the abdomen
  • Anemia: Reduced ability of blood to carry oxygen from various possible causes.
  • Bone pain: Bone pain or tenderness is aching or other discomfort in one or more bones.
  • Congenital conditions: Any condition that you are born with such as birth defects or genetic diseases.
  • Congenital metabolic disorders: Congenital (birth) defects affecting any metabolic systems.
  • 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".
  • Genetic Disease: Any disease that is handed down to oneself through the chromosomes of ones parents
  • Hydrops fetalis: Abnormal accumulation of fluid in the fetus which can be fatal. Excessive fluid leaves the blood and enters the tissues. It can have non-immune and immune (mother's immune system destroys fetal red blood cells).
  • Hyperpigmentation: Excess skin pigment or coloration
  • Hyperreflexia: An exaggerated reflex of the muscles
  • Hypersplenism: A condition which is characterized by the exaggeration of blood degrading function of the spleen
  • Infection: Infections as a symptom.
  • Lipid metabolism conditions: Disorders affecting the metabolism of lipids (blood fats), including cholesterol.
  • Metabolic disorders: Disorders that affect the metabolic system in human
  • 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
  • Pericarditis: Inflammation of the membrane surrounding the heart
  • Pulmonary hypertension: Pulmonary hypertension refers to high blood pressure in the blood vessels that carry blood to the lungs. Blood pressure in other parts of the body is normal or sometimes even low. The condition may be caused by such things as lung conditions (e.g. emphysema, chronic bronchitis), heart conditions (e.g. congestive heart failure, birth defects involving heart), AIDS or medications such as fenfluramine (a diet drug). Sometimes it occurs for no apparent reason and is called primary pulmonary hypertension.
  • Restrictive cardiomyopathy: A condition which is characterized by restriction to the function of the walls of the heart
  • 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
  • Tooth eruption delayed: The delayed eruption of a tooth from the gum

 

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