Silvina N. Contreras-Capetillo, Servicio de Genética, Hospital General Dr. Agustín O’Horán, Secretaría de Salud de Yucatan, Merida, Yucatan; Laboratorio de Salud Reproductiva y Genética, Centro de Investigaciones Regionales Dr. Hideyo Noguchi, Universidad Autónoma de Yucatán, Mérida, Yucatan; Mexico
Doris Pinto-Escalante, Laboratorio de Salud Reproductiva y Genética, Centro de Investigaciones Regionales Dr. Hideyo Noguchi, Universidad Autónoma de Yucatán, Mérida, Yucatan, Mexico
Jorge A. Rangel-Méndez, Laboratorio de Salud Reproductiva y Genética, Centro de Investigaciones Regionales Dr. Hideyo Noguchi, Universidad Autónoma de Yucatán, Mérida, Yucatan, Mexico
Ricardo E. Pech-George, Servicio de Psiquiatría, Hospital Regional de Alta Especialidad de la Península de Yucatán, Merida, Yucatan, Mexico
Edwin Bacelis-Campo, Servicio de Medicina Interna, Hospital General Dr. Agustín O’Horán, Secretaría de Salud de Yucatan, Merida, Yucatan, México
Fabiola Solís-Baeza, Servicio de Pediatría, Hospital General Dr. Agustín O´Horán, Secretaría de Salud de Yucatan, Merida, Yucatan, México
Mirian Gutiérrez-Flores, Servicio de Endocrinología, Hospital General Dr. Agustín O´Horán, Secretaría de Salud de Yucatan, Merida, Yucatan, México
Mathia Aguiar-Castellanos, Servicio de Reumatología, Hospital General Dr. Agustín O´Horán, Secretaría de Salud de Yucatán, Yucatan, México
Ruy D. Arjona-Villicaña, Servicio de Endocrinología, Hospital Regional de Alta Especialidad de la Península de Yucatán, Merida, Yucatan, México
Alejandro Gaviño-Vergara, Servicio de Genética, Centro de Rehabilitación CRIT Quintana Roo, Cancun, Quintana Roo, México
Héctor G. Cámara-Castillo, Servicio de Oftalmología, Clínica de Merida, Merida, Yucatan, Mexico
Manlio Graniel-Sabido, Laboratorio de Química Clínica, Facultad de Química, Universidad Autónoma de Yucatán, Mérida, Yucatán, Mexico
Lizbeth González-Herrera, Laboratorio de Salud Reproductiva y Genética, Centro de Investigaciones Regionales Dr. Hideyo Noguchi, Universidad Autónoma de Yucatán, Mérida, Yucatan, México
Background: Fabry disease (FD) is an X-linked lysosomal storage disease caused by a deficiency of the enzyme alphagalactosidase 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.
Keywords: Hypertension. Diabetes mellitus. Fabry disease. Angiokeratomas. Rheumatoid arthritis. Pain crises.