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.

The development of the Mexican Familial Hypercholesterolemia (FH) National Registry.

BACKGROUND AND AIMS: In Mexico, familial hypercholesterolemia (FH) is, as in other parts of the world, largely underdiagnosed and undertreated, and represents a significant burden to the healthcare system. However, there is not enough information to design public policies against the disease. Genetic studies have shown that LDLR mutations are the most common cause, but in a large percentage of the cases, no mutation has been identified in the FH genes. METHODS: In accordance with the procedures of the European Atherosclerosis Society (EAS) FH registries network, the Mexican FH registry (www.fhmexico.org.mx) was launched in December 2017 to address the gaps in knowledge regarding this disease. Reference centres and the main nationwide public health providers have been invited to participate. RESULTS: To date, 142 cases have been registered. The mean age at diagnosis of probands is 36.42 ±â€¯19.9 years (adults and children). Tendon xanthomas or premature corneal arcus were present in 40% and 17.6%, respectively. Molecular analysis was present in 70%, with over 95% of alterations located on the LDL receptor gene. The median untreated LDL-C is 6.5 (5.6-8.4) mmol/l and the median on treatment LDL-C level is 4.3 ±â€¯1.7 mmol/l. CONCLUSIONS: The Mexican FH registry aims to obtain real world information regarding the management of patients in this country. By participating in this global call to action, we hope to improve both short and long term outcomes for all FH patients in Mexico.