What it is
Gaucher disease is an inherited (autosomal recessive) lysosomal storage disorder caused by deficiency of the enzyme glucocerebrosidase. The enzyme shortfall lets a fatty substance (glucosylceramide) build up inside immune cells called macrophages, which collect in the spleen, liver, and bone marrow.
Signs and symptoms
Thrombocytopenia
A low platelet count (thrombocytopenia) is a cardinal feature of Gaucher disease and can lead to easy bruising or bleeding.
Anemia
Low red blood cell counts (anemia) are a cardinal feature of Gaucher disease.
Splenomegaly
An enlarged spleen (splenomegaly) is one of the most common signs of Gaucher disease, from buildup of Gaucher cells.
Hepatomegaly
An enlarged liver (hepatomegaly) is common in Gaucher disease and results from the same cell buildup.
Bone pain
Bone pain is a cardinal feature of Gaucher disease, reflecting involvement of the bone marrow and skeleton.
Fatigue
Fatigue is a cardinal feature of Gaucher disease and a major contributor to reduced quality of life.
Treatment and management
What the research describes, not a recommendation. Treatment decisions belong with your clinician.
This covers treatments that appear in the published research mapped here. Investigational and experimental therapies are not included, so their absence is a boundary of this map, not a sign they do not exist.
Imiglucerase
Enzyme replacement therapy with imiglucerase delivers a working copy of the missing glucocerebrosidase enzyme by intravenous infusion, the long-standing standard of care for Gaucher disease.
Used to help with: Gaucher disease.
“Disease-specific treatment consists of intravenous enzyme replacement therapy (ERT) using one of the currently available molecules (imiglucerase, velaglucerase, or taliglucerase).”
Eliglustat
Eliglustat is an oral substrate reduction therapy that inhibits glucosylceramide synthase, cutting production of the fatty substance that accumulates in Gaucher disease.
Used to help with: Gaucher disease.
“Eliglustat tartrate is a new substrate reduction therapy for GD, which acts as a specific and potent inhibitor of glucosylceramide synthase and can be administered orally.”
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How to read the evidence labels
Where this comes from
This guide is built from 3 published source(s). Every claim above links back to one of them. Click any source ID to read the original on PubMed.