Familial hypercholesterolemia in Mexico: Initial insights from the national registry.

BACKGROUND: Familial hypercholesterolemia (FH) remains underdiagnosed and undertreated. OBJECTIVE: Report the results of the first years (2017-2019) of the Mexican FH registry. METHODS: There are 60 investigators, representing 28 federal states, participating in the registry. The variables included are in accordance with the European Atherosclerosis Society (EAS) FH recommendations. RESULTS: To date, 709 patients have been registered, only 336 patients with complete data fields are presented. The mean age is 50 (36-62) years and the average time since diagnosis is 4 (IQR: 2-16) years. Genetic testing is recorded in 26.9%. Tendon xanthomas are present in 43.2%. The prevalence of type 2 diabetes is 11.3% and that of premature CAD is 9.8%. Index cases, male gender, hypertension and smoking were associated with premature CAD. The median lipoprotein (a) level is 30.5 (IQR 10.8-80.7) mg/dl. Statins and co-administration with ezetimibe were recorded in 88.1% and 35.7% respectively. A combined treatment target (50% reduction in LDL-C and an LDL-C <100 mg/dl) was achieved by 13.7%. Associated factors were index case (OR 3.6, 95%CI 1.69-8.73, P = .002), combination therapy (OR 2.4, 95%CI 1.23-4.90, P = .011), type 2 diabetes (OR 2.8, 95%CI 1.03-7.59, P = .036) and age (OR 1.023, 95%CI 1.01-1.05, P = .033). CONCLUSION: The results confirm late diagnosis, a lower than expected prevalence and risk of ASCVD, a higher than expected prevalence of type 2 diabetes and undertreatment, with relatively few patients reaching goals. Recommendations include, the use of combination lipid lowering therapy, control of comorbid conditions and more frequent genetic testing in the future.

Hemiagenesia tiroidea. Reporte de 3 casos y revisión de la literatura / Thyroid hemiagenesis. A review of the literature and a report of three cases

La hemiagenesia tiroide se define como la ausencia congénita de un lóbulo; el izquierdo se efecta en 80 por ciento de los casos y se asocia con agenesia del itsmo en 50 por ciento. Predomina en la mujer con relación de 3:1, existe crecimiento compensador del lóbulo contralateral y difunción de la glándula del 38.5 al 47 por ciento, de la cual el hipertiroidismo es el más frecuente. Desde que en 1896 Handfield-Jones publicaran el primer caso, hasta el momento actual hay 118 casos en la literatura mundial, en este reporte se informan tres casos más, incluyendo el segundo asociado a hiperparatiroidismo y el tercero a hipotiroidismo. El diagnóstico se realizó mediante gamagráma tiroideo con I-131 y ultrasonido de cuello, en él se demostró ausencia de un lóbulo, lo que hizo innecesario realizar gamagráma tiroideo con administración de hormona tiro-estimulante(TSH), para confirmar la hemiagenésia. La frecuencia en las diferentes series, tanto quirúrgicas, de autópsia, como de estudios por enfermedades tiroideas, es menor del 1 por ciento. La etiología es desconocida.