The Spanish Fabry women study : a retrospective observational study describing the phenotype of females with GLA variants
Sánchez Martínez, Rosario (Hospital General Universitario de Alicante (Alacant, País Valencià))
Ripoll-Vera, Tomás (Institut d'Investigació Sanitària Illes Balears)
López-Mendoza, M. (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia))
de Juan-Ribera, Joaquín (Hospital General Universitario de Elda)
Gimeno-Blanes, Juan R. (Hospital Universitario Virgen de la Arrixaca (Múrcia))
Hermida-Ameijeiras, Alvaro (Complejo Hospitalario Universitario de Santiago de Compostela)
Ruz-Zafra, María Aurora (Hospital Serranía de Ronda (Màlaga))
Torregrosa, Josep Vicens (Hospital Clínic i Provincial de Barcelona)
Mora, Antonia (Hospital General Universitario de Elche)
García-Pinilla, José Manuel (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia))
Fortuny, Elena (Institut d'Investigació Sanitària Illes Balears)
Aguinaga-Barrilero, Ana (Amicus Therapeutics. SLU (Madrid))
Torra Balcells, Roser (Institut d'Investigació Biomèdica Sant Pau)
Universitat Autònoma de Barcelona

Data:	2023
Resum:	Fabry disease (FD) is an X-linked condition caused by variants in the GLA gene. Since females have two X chromosomes, they were historically thought to be carriers. Although increased knowledge has shown that females often develop the disease, data from Spain and other countries reported that females were undertreated. The aim of this study was to provide a wider and more recent description of the disease characteristics and associated management of females with a GLA variant in a Spanish cohort. Ninety-seven females from 12 hospitals were included in this retrospective study. Mean age was 50. 1 ± 17. 2 years. Median follow-up time from GLA variant identification was 36. 1 months, and most (70. 1%) were identified through family screening. Variants associated with classic/non-classic phenotypes were similarly distributed (40. 2%/53. 6%). Missense variants were the most prevalent (n = 84, 86. 6%). In the overall group, 70. 4% had major organ involvement (i. e. , cardiac, renal, cerebrovascular, peripheral nervous system or gastrointestinal), and 47. 3% also had typical Fabry signs (angiokeratoma, cornea verticillata or increased plasma lyso-Gb3). Cardiac involvement was the most prevalent (49. 5%) and the main reason for treatment initiation. A total of 33 (34%) patients received disease-specific therapy, 55% of whom were diagnosed by family screening. Females carrying variants associated with a classic phenotype had higher frequencies of clinical manifestations (92. 3%) and were predominant in the treated subgroup (69. 7%). Despite this, there were 34 untreated females (56. 7% of total untreated), with both phenotypes represented, who had major organ involvement, with 27 of cardiac, renal or cerebrovascular nature. Age or comorbidities in this subgroup were comparable to the treated subgroup (P = 0. 8 and P = 0. 8, respectively). Efforts have been made in recent years to diagnose and treat timely Fabry females in Spain. A high percentage of females with pathogenic variants, regardless of their associated phenotype, will likely develop disease. A proportion of females with severe disease in this cohort received specific treatment. Still a significant number of females, even with same profile as the treated ones, who may be eligible for treatment according to European recommendations, remained untreated. Reasons for this merit further investigation.
Drets:	Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original.
Llengua:	Anglès
Document:	Article ; recerca ; Versió publicada
Matèria:	Fabry disease ; Females ; GLA variants ; Organ involvement ; X-linked disorder
Publicat a:	Orphanet journal of rare diseases, Vol. 18 Núm. 1 (december 2023) , p. 8, ISSN 1750-1172

DOI: 10.1186/s13023-022-02599-w
PMID: 36624527

10 p, 957.2 KB

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