Gaucher disease perinatal lethal

The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.

Fetal Gaucher disease is the perinatal lethal form of Gaucher disease (GD; see this term).

It is very rare with an incidence of less than 5% of GD cases.

This form is particularly severe. The disease manifests in the fetus with a decrease or absence of fetal movements, fetal and placental anasarca, hepatosplenomegaly, ichthyosis, arthrogryposis, facial dysmorphism and fetal thrombocytopenia. Death usually occurs in utero or shortly after birth (<3 months).

Fetal Gaucher disease is a lysosomal storage disease caused by a mutation in the GBA gene (1q21) that encodes for the lysosomal enzyme, glucocerebrosidase. The enzyme deficiency resulting from the mutation leads to accumulation of glucosylceramide (or beta-glucocerebrosidase) deposits in the cells of the reticuloendothelial system of the liver, spleen and bone marrow (Gaucher cells).

Diagnosis is made by demonstrating a deficiency in the enzymatic activity of glucocerebrosidase.

Biochemical prenatal diagnosis is recommended for couples who have already had a child diagnosed with Fetal Gaucher disease or GD type 2. It can be carried out by measuring the enzyme activity in chorionic villus samples at 10-12 weeks of pregnancy or in amniocytes in culture towards 16 weeks of pregnancy.

The transmission is autosomal recessive.

There is no treatment for this severe form of the disease.

Visit the Orphanet disease page for more resources.

Last updated: 2/1/2012

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