ArticleJournal of genetic counseling2008
Disease rarity, carrier status, and gender: a triple disadvantage for women with Fabry disease.
Article in Journal of genetic counseling, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers, 3 of them syntheses that pooled it.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
21 citing papers in PubMed, 3 syntheses or guidelines pooled it, 39 citations in OpenAlex.
- X Chromosome Inactivation in Carriers of Fabry Disease: Review and Meta-Analysis.International journal of molecular sciences · 2021Pooled it
- Living with a rare disorder: a systematic review of the qualitative literature.Molecular genetics & genomic medicine · 2017Pooled it
- Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors.Journal of genetic counseling · 2013Guideline
- Long-term efficacy of migalastat in females with Fabry disease.Journal of medical genetics · 2025Trial
- Proxy patients' perceptions of genetic counselor empathy responses.Journal of community genetics · 2026Article
- Pathogenic mechanisms in Fabry disease.Frontiers in medicine · 2026Review
- Exploring the burdens of women living with Fabry disease in Japan: A patient survey of 62 respondents.Molecular genetics and metabolism reports · 2025Article
- Quality of life and unmet needs in patients with fabry disease: a qualitative study.Orphanet journal of rare diseases · 2024Review
- Ocular Manifestations of Fabry Disease: Report from a Tertiary Eye Care Center in Türkiye.Turkish journal of ophthalmology · 2024Article
- Patient-reported experience with Fabry disease and its management in the real-world setting: results from a double-blind, cross-sectional survey of 280 respondents.Orphanet journal of rare diseases · 2024Article
- Management of Hypertension in Fabry Disease.Electrolyte & blood pressure : E & BP · 2023Review
- Biochemical Mechanisms beyond Glycosphingolipid Accumulation in Fabry Disease: Might They Provide Additional Therapeutic Treatments?Journal of clinical medicine · 2023Review
- Development and validation of a disease-specific quality of life scale for adult patients with Fabry disease in Japan.Journal of patient-reported outcomes · 2022Article
- A novel unbiased method reveals progressive podocyte globotriaosylceramide accumulation and loss with age in females with Fabry disease.Kidney international · 2022Article
- The Effect of Green Tea as an Adjuvant to Enzyme Replacement Therapy on Oxidative Stress in Fabry Disease: A Pilot Study.Frontiers in nutrition · 2022Article
- Gender Differences in the Application of Spanish Criteria for Initiation of Enzyme Replacement Therapy for Fabry Disease in the Fabry Outcome Survey.International journal of molecular sciences · 2016Article
- Experiences of Being Heterozygous for Fabry Disease: a Qualitative Study.Journal of genetic counseling · 2016Article
- Mosaicism of podocyte involvement is related to podocyte injury in females with Fabry disease.PloS one · 2014Article
- The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations.Journal of inherited metabolic disease · 2010Article
- Expression of the disease on female carriers of X-linked lysosomal disorders: a brief review.Orphanet journal of rare diseases · 2010Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Fabry disease is a multi-systemic X-linked genetic disorder which has progressive and deadly consequences for those it afflicts. Fabry disease symptoms are widely recognized as a substantive burden for affected males. In comparison, female heterozygotes have traditionally been viewed as relatively symptom-free, though a debate continues about whether and how much they suffer with the disease. Previous research suggests that females with Fabry disease may be triply disadvantaged in healthcare settings owing to: (1) disease rarity, (2) devalued carrier status, and (3) gender. The combined effects of these three factors suggest that female heterozygotes may suffer substantially with Fabry disease symptoms. A qualitative analysis of a brief disease-specific questionnaire provides supportive evidence. The female Fabry disease participants described experiencing significant symptoms that interfered with their lives. They also described unsatisfying experiences with healthcare professionals related to disease rarity, carrier status, and gender. The results of this study corroborate the suggestion that this triple disadvantage exists and may preclude appropriate management and treatment of females with Fabry disease. The role of healthcare professionals, including genetic counselors, in remedying this disadvantage is reviewed.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.