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Women with Gaucher Disease.
Maria Del Mar Meijon-Ortigueira1, Isabel Solares2, Cecilia Muñoz-Delgado3
1Department of Hematology, Hospital Universitario Ramón y Cajal-IRYCIS, 28034 Madrid, Spain.
Biomedicines
|March 28, 2024
Summary
Gaucher disease, a genetic disorder affecting glucocerebrosidase enzyme levels, presents unique challenges for women across life stages. This review highlights reproductive health, bone health, and cancer screening considerations for improved patient management.
Area of Science:
- Biochemistry
- Genetics
- Women's Health
Background:
- Gaucher disease results from glucocerebrosidase deficiency, causing glucosylceramide accumulation.
- Limited data exists on Gaucher disease's impact on women's diverse life stages.
- Understanding these impacts is crucial for comprehensive patient care.
Purpose of the Study:
- To review the specific effects of Gaucher disease on women throughout their lifespan.
- To consolidate information on reproductive, bone, and oncological health in affected women.
- To inform clinical recommendations and therapeutic strategies.
Main Methods:
- Literature review of existing scientific evidence on Gaucher disease in women.
- Analysis of reported alterations across different life stages: menarche, pregnancy, menopause.
- Synthesis of data regarding associated complications like menorrhagia and osteopenia.
Main Results:
- Delayed menarche reported, not linked to fertility issues.
- Menorrhagia is common, associated with hematologic abnormalities.
- Early menopause and increased osteopenia risk observed; potential for liver/renal neoplasms requires monitoring.
Conclusions:
- Genetic counseling is essential for all Gaucher disease patients.
- Continuous monitoring of organomegaly, bone, and hematologic status is vital.
- Tailored management during puerperium and lactation, alongside vigilant cancer screening, is recommended.
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