Gaceta medica de Mexico · 2025
The rare in the common: unsuspected Fabry disease in a large family with common diseases.
СтатьяНазвание и аннотация: Перевод в очереди
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Contreras-Capetillo Silvina N, Pinto-Escalante Doris, Rangel-Méndez Jorge A, Pech-George Ricardo E, Bacelis-Campo Edwin, Solís-Baeza Fabiola, Gutiérrez-Flores Mirian, Aguiar-Castellanos Mathia, Arjona-Villicaña Ruy D, Gaviño-Vergara Alejandro, Castillo Héctor G Cámara, Graniel-Sabido Manlio, González-Herrera Lizbeth
Аннотация
BACKGROUND: Fabry disease (FD) is an X-linked lysosomal storage disease caused by a deficiency of the enzyme alpha-galactosidase A (encoded by the GLA gene). Affected individuals present hypertension (HT), acroparesthesias, and cardiovascular damage.
OBJECTIVE: Here we describe the clinical presentation of a 5-generation family affected by FD with a late diagnosis because their pathology was masked by common diagnoses such as diabetes mellitus (DM), obesity, schizophrenia, and essential HT.
MATERIALS AND METHODS: Clinical information was obtained from 71 family members, and molecular testing was performed on 40 of them.
RESULTS: In twenty-one patients, Sanger sequencing identified the GLA gene variant NM_000169.2: c.166T > C p.(Cys56Arg). In positive patients, DM, rheumatoid arthritis, and Graves' disease were observed concurrently. Hence, a possible relationship between immunological diseases and FD cannot be ruled out.
CONCLUSION: Suspecting a rare disease only after ruling out common diseases can lead to diagnostic and treatment delays. Well-trained clinicians are required to accurately identify the myriad symptoms of FD.
OBJECTIVE: Here we describe the clinical presentation of a 5-generation family affected by FD with a late diagnosis because their pathology was masked by common diagnoses such as diabetes mellitus (DM), obesity, schizophrenia, and essential HT.
MATERIALS AND METHODS: Clinical information was obtained from 71 family members, and molecular testing was performed on 40 of them.
RESULTS: In twenty-one patients, Sanger sequencing identified the GLA gene variant NM_000169.2: c.166T > C p.(Cys56Arg). In positive patients, DM, rheumatoid arthritis, and Graves' disease were observed concurrently. Hence, a possible relationship between immunological diseases and FD cannot be ruled out.
CONCLUSION: Suspecting a rare disease only after ruling out common diseases can lead to diagnostic and treatment delays. Well-trained clinicians are required to accurately identify the myriad symptoms of FD.