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Gaucher's disease in pregnancy
J S Rosnes1, M F Sharkey, J C Veille
1Department of Obstetrics and Gynecology, Bowman Gray School of Medicine, Wake Forest University, Winston-Salem, North Carolina 27157, USA.
Obstetrical & Gynecological Survey
|September 1, 1996
Summary
Gaucher's disease, a genetic disorder, presents varied symptoms and requires careful management during pregnancy. Enzyme replacement therapy is available, but its safety and efficacy in pregnancy need further investigation.
Area of Science:
- Genetics
- Metabolic Disorders
- Reproductive Medicine
Background:
- Gaucher disease is an autosomal recessive lysosomal storage disorder caused by glucocerebrosidase deficiency, impacting lipid recycling.
- It exhibits heterogeneous clinical presentations, including organomegaly, bone issues, anemia, and neurological symptoms.
- Type 1 Gaucher disease, often less severe, is treatable with enzyme replacement therapy (alglucerase).
Observation:
- Patients with Type 1 Gaucher disease often reach reproductive age and desire children.
- Pregnancy in Gaucher disease patients carries risks like worsening anemia, thrombocytopenia, and potential spontaneous abortion.
- Limited data exists on alglucerase treatment during pregnancy, with only one small case series reported.
Findings:
- Untreated pregnancy in Gaucher disease can exacerbate maternal anemia and thrombocytopenia, increasing bleeding risk.
- Organomegaly may significantly increase during pregnancy without treatment.
- The impact of alglucerase on pregnancy complications and fetal development remains largely unproven.
Implications:
- Further research is crucial to determine if alglucerase mitigates pregnancy risks in Gaucher disease patients.
- Investigating potential adverse effects of alglucerase on fetal development is essential.
- Establishing clear guidelines for prenatal diagnosis, counseling, and obstetrical surveillance for pregnant Gaucher disease patients is needed.