Medicina clinica · 2025
Fabry disease: Importance of genetic counseling in the reclassification of variants of uncertain clinical significance.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
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Colastra Ugena Elena, Peña Cabia Ana, Calero Paniagua Ismael, Rodríguez Díaz Sonia, Rincón Ruiz Begoña, Gómez de Oña Juan
Аннотация
OBJECTIVE: Fabry disease (FD) is an X-linked genetic disorder characterized by the deficiency or absence of the enzyme alpha-galactosidase. This leads to intracellular deposits of sphingolipids in vital organs, making it a multisystemic disease. The aim of this study is to emphasize the importance of genetic diagnosis and multidisciplinary follow-up of patients with FD.
MATERIALS AND METHODS: This case presents two patients diagnosed with hypertrophic cardiomyopathy, both carrying the same variant of uncertain clinical significance (VUS) in the GLA gene, with no known relationship between them. Since the genetic counseling consultation, a family segregation study was performed, enabling the redirection of the diagnosis and detection of FD in several symptomatic and asymptomatic relatives.
RESULTS: Genetic studies allowed the reclassification of the VUS as probably pathogenic, demonstrating its involvement in the pathology of these patients. Adequate clinical follow-up was provided for these patients, and reproductive genetic counseling was offered to family members.
DISCUSSION: Early diagnosis of FD helps improve patient prognosis.
CONCLUSION: Genetic counseling enables early diagnosis and proper follow-up of FD.
MATERIALS AND METHODS: This case presents two patients diagnosed with hypertrophic cardiomyopathy, both carrying the same variant of uncertain clinical significance (VUS) in the GLA gene, with no known relationship between them. Since the genetic counseling consultation, a family segregation study was performed, enabling the redirection of the diagnosis and detection of FD in several symptomatic and asymptomatic relatives.
RESULTS: Genetic studies allowed the reclassification of the VUS as probably pathogenic, demonstrating its involvement in the pathology of these patients. Adequate clinical follow-up was provided for these patients, and reproductive genetic counseling was offered to family members.
DISCUSSION: Early diagnosis of FD helps improve patient prognosis.
CONCLUSION: Genetic counseling enables early diagnosis and proper follow-up of FD.