genetic

Gaucher disease

Gaucher's disease or Gaucher disease (GD) is a disorder in which glucocerebroside accumulates in cells and certain organs. The disorder is characterized by bruising, , , low blood platelet count and enlargement of the liver and , and is caused by a of the glucocerebrosidase, which acts on glucocerebroside. When the enzyme is defective, glucocerebroside accumulates, particularly in white blood cells and especially in macrophages. Glucocerebroside can collect in the spleen, liver, kidneys, lungs, brain, and bone .

Underlined words are explained — tap any of them.

Symptoms — what it feels like

·Hepatosplenomegaly, hypersplenism, pancytopenia, joint pain, symptoms (usually mild), yellowish skin, and osteoporosis

Causes — why it happens

·Glucocerebrosidase

How it's found

· testing

Prevention

·Gene editing

Treatment

· replacement therapy

Complications

·, splenic rupture, bleeding, and

Outlook

·Slightly shortened life expectancy (type I), death in early childhood (type II)

More in Blood

Iron-deficiency anaemia Thalassaemia Sickle cell disease Leukaemia Lymphoma Haemophilia G6PD deficiency Aplastic anaemia Immune thrombocytopenia Multiple myeloma Von Willebrand disease Vitamin B12 deficiency

See all of Blood →

Plain-language summary adapted from Wikipedia. Not medical advice.