Women with Gaucher Disease
Abstract
:1. Introduction
2. Childhood and Adolescence
2.1. Changes in Growth
2.2. Puberty
2.3. Menstruation
2.4. Psychosocial Sphere
3. Adulthood
3.1. Contraceptive Methods
3.2. Genetic Counseling
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- If the other parent is not a carrier of a GBA1 mutation, all their children will be carriers, but there is no risk of affected children;
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- If the other parent is a carrier of a heterozygous mutation (risk in the general population 0.7–0.8% [17]), 25% of the children will be at risk of being affected by the disease, and 50% will be carriers of the mutation.
3.3. Monitoring during Pregnancy
3.3.1. Vitamins and Other Supplementation
3.3.2. Organomegaly and Bone Manifestations
3.3.3. Hematologic Manifestations
3.3.4. Immunization
3.4. Birth, Postpartum Period and Lactation
3.5. Treatment Recommendations during Pregnancy and Lactation
3.5.1. GD Treatment
3.5.2. Supportive Care
3.6. Cancer Screening in the Adult Patient with Gaucher Disease
3.7. Osteoporosis
4. Conclusions
Author Contributions
Funding
Conflicts of Interest
References
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Stage of Life | Risks | Recommendations | |
---|---|---|---|
Childhood | Growth retardation | ||
Adolescence | Delayed menarche | ||
Adulthood | General | Abnormal menstrual bleeding Potential development of Parkinson’s disease or neoplasms | Iron supplementation Contraceptive methods Screening protocols |
Pregnancy and lactation | Iron, folic acid, vitamin B12, calcium and vitamin D deficiencies Appearance or worsening of organomegaly Loss of bone mass Hematologic manifestations (thrombocytopenia, rare bleeding disorders) Infections | Supplementation Ultrasound monitoring Consider initiation or adjustment of treatment (ERT 1) Consider initiation or adjustment of treatment (ERT 1) Consider initiation or adjustment of treatment (ERT 1) Hemostatic treatment (antifibrinolytics, platelet transfusion, fresh frozen plasma…) Check immunization | |
Menopause | Early onset of menopause Osteoporosis, osteopenia | HRT 2 DXA 3/densitometry monitoring Consider initiation or adjustment of treatment Support treatment (oral bisphosphonates, vitamin D, and calcium supplementation) |
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Meijon-Ortigueira, M.d.M.; Solares, I.; Muñoz-Delgado, C.; Stanescu, S.; Morado, M.; Pascual-Izquierdo, C.; Villalon Blanco, L.; Belanger Quintana, A.; Menéndez-Conde, C.P.; Morales-Conejo, M.; et al. Women with Gaucher Disease. Biomedicines 2024, 12, 579. https://doi.org/10.3390/biomedicines12030579
Meijon-Ortigueira MdM, Solares I, Muñoz-Delgado C, Stanescu S, Morado M, Pascual-Izquierdo C, Villalon Blanco L, Belanger Quintana A, Menéndez-Conde CP, Morales-Conejo M, et al. Women with Gaucher Disease. Biomedicines. 2024; 12(3):579. https://doi.org/10.3390/biomedicines12030579
Chicago/Turabian StyleMeijon-Ortigueira, Maria del Mar, Isabel Solares, Cecilia Muñoz-Delgado, Sinziana Stanescu, Marta Morado, Cristina Pascual-Izquierdo, Lucía Villalon Blanco, Amaya Belanger Quintana, Covadonga Pérez Menéndez-Conde, Montserrat Morales-Conejo, and et al. 2024. "Women with Gaucher Disease" Biomedicines 12, no. 3: 579. https://doi.org/10.3390/biomedicines12030579