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Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study
 
 
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Biomedicines
Volume 12
Issue 3
10.3390/biomedicines12030579
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Review

Women with Gaucher Disease

by
Maria del Mar Meijon-Ortigueira
1,*,
Isabel Solares
2,
Cecilia Muñoz-Delgado
3,
Sinziana Stanescu
4,
Marta Morado
5,
Cristina Pascual-Izquierdo
6,
Lucía Villalon Blanco
7,
Amaya Belanger Quintana
4,8,
Covadonga Pérez Menéndez-Conde
9,
Montserrat Morales-Conejo
8,10 and
Jesús Villarrubia-Espinosa
1
1
Department of Hematology, Hospital Universitario Ramón y Cajal-IRYCIS, 28034 Madrid, Spain
2
Department of Internal Medicine, Clínica Universidad de Navarra, 28027 Madrid, Spain
3
Department of Internal Medicine, Hospital Quirónsalud Sur, 28922 Madrid, Spain
4
Pediatric Metabolic Unit, Hospital Universitario Ramón y Cajal, European Reference Center (MetabERN), 28034 Madrid, Spain
5
Department of Hematology, Hospital Universitario La Paz, 28046 Madrid, Spain
6
Department of Hematology, Hospital Universitario Gregorio Marañon, 28007 Madrid, Spain
7
Department of Hematology, Hospital Universitario Fundación Alcorcón, 28922 Madrid, Spain
8
Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), 28029 Madrid, Spain
9
Pharmacy Department, Ramón y Cajal Hospital, IRYCIS, 28034 Madrid, Spain
10
Department of Internal Medicine, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain
*
Author to whom correspondence should be addressed.
Biomedicines 2024, 12(3), 579; https://doi.org/10.3390/biomedicines12030579
Submission received: 4 February 2024 / Revised: 26 February 2024 / Accepted: 29 February 2024 / Published: 5 March 2024
(This article belongs to the Special Issue Advanced Research in Lysosomal Storage Disorders)
Versions Notes

Abstract

Gaucher disease is an inherited disorder in which there is a deficiency of the enzyme glucocerebrosidase, which leads to the accumulation of glucosylceramide. Although much scientific evidence is now available, there is still limited data on the impact on the different life stages of women with this disease. Among other alterations, a delay in menarche has been described, although it has not been related to fertility problems. Menorrhagia is relatively frequent, being related to the presence of thrombocytopenia, thrombocytopathies or coagulation disorders. On the other hand, pregnancy planning is an increasingly frequent concern. All patients should undergo genetic counseling, and it is important to monitor the appearance or worsening of organomegaly, bone and hematologic abnormalities to establish clinical and therapeutic recommendations. Management during the puerperium will depend on the evolution of gestation, and, during the lactation period, the potential appearance of bone complications should be assessed. An early onset of menopause, compared to the general population, has also been described, which may accelerate the development of osteopenia. Finally, although the usual screening protocols for neoplasms are currently being performed, it is recommended to watch for early signs of liver or renal neoplasms when examining the results of imaging tests performed during evaluations for this disease.
Keywords: Gaucher disease; women; enzyme-replacement therapy (ERT); substrate-reduction therapy (SRT); lysosomal-storage disorder Gaucher disease; women; enzyme-replacement therapy (ERT); substrate-reduction therapy (SRT); lysosomal-storage disorder

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MDPI and ACS Style

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

AMA Style

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 Style

Meijon-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

APA Style

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., & Villarrubia-Espinosa, J. (2024). Women with Gaucher Disease. Biomedicines, 12(3), 579. https://doi.org/10.3390/biomedicines12030579

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