ReviewFrontiers in cardiovascular medicine2025
Females with Fabry disease: an expert opinion on diagnosis, clinical management, current challenges and unmet needs.
Review in Frontiers in cardiovascular medicine, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
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Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Fabry disease cardiomyopathy: A state-of-the-art review.Progress in cardiovascular diseasesPooled it
- Review
- Reply to Dr. Finsterer's Letter on 'Unexpected Hypotension in a Female Patient with Fabry Disease'.Internal medicine (Tokyo, Japan) · 2026Article
- Fabry Disease: A Focus on the Role of Oxidative Stress.Antioxidants (Basel, Switzerland) · 2026Review
- A New Class of Pathogenic Non-Coding Variants in GLA.International journal of molecular sciences · 2026Article
- Case Report: Fabry disease mimicking coronary artery disease and hypertrophic cardiomyopathy-a 15-year diagnostic delay.Frontiers in cardiovascular medicine · 2026Article
- Cutaneous leukocytoclastic vasculitis as a nonclassical presentation of Fabry disease in an adult female patient.JAAD case reports · 2025Article
- Article
- Incidental Identification of Potentially Affected Individuals Through Expanded Carrier Screening During Preconception or Early Pregnancy.Prenatal diagnosis · 2025Article
Corrections and comments
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Authors and funding
11 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Females with Fabry disease (FD) often have a milder phenotype, later symptom onset, and slower disease progression than males, causing delayed diagnosis and undertreatment. A survey was conducted at nine Italian FD centers to evaluate routine management of females with FD; results were discussed at a meeting of eleven Italian specialists and recommendations developed. Of the 227 females managed by the physicians surveyed, 85% were diagnosed through family screening and 38.5% were symptomatic at presentation. Female patients usually underwent cardiac, renal, and neurologic monitoring, and measurement of plasma lyso-globotriaosylsphingosine (Gb3) levels at 6- or 12-month intervals. Treatment was initiated in 54%, mostly enzyme replacement therapy. Experts recommended screening all female relatives of index cases and evaluating all potentially affected organ systems. Diagnosis should be based on genetic analysis. Individualized monitoring of asymptomatic females must balance the need to detect organ damage while maintaining adherence. Treatment decisions should be based primarily on signs/symptoms of FD, but age, family screening results,
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