Roopa Mehta1, Alexandro J Martagon2, Gabriela A Galan Ramirez3, Neftali Eduardo Antonio-Villa3, Arsenio Vargas-Vázquez3, Daniel Elias-Lopez1, Gustavo Gonzalez-Retana4, Bethsabel Rodríguez-Encinas4, Jose J Ceballos-Macías5, Alejandro Romero-Zazueta6, Rocio Martinez-Alvarado7, Julieta D Morales-Portano8, Humberto Alvarez-Lopez9, Leobardo Sauque-Reyna10, Laura G Gomez-Herrera11, Luis E Simental-Mendia12, Humberto Garcia-Aguilar8, Elizabeth Ramirez-Cooremans13, Berenice Peña-Aparicio7, Victoria Mendoza-Zubieta14, Perla A Carrillo-Gonzalez15, Aldo Ferreira-Hermosillo14, Nacu Caracas-Portilla7, Guadalupe Jimenez-Dominguez16, Alinna Y Ruiz-Garcia17, Hector E Arriaga-Cazares18, Jesus R Gonzalez-Gonzalez19, Carla V Mendez-Valencia20, Francisco G Padilla21, Ramon Madriz-Prado5, Manuel O De Los Rios-Ibarra22, Alejandra Vazquez-Cardenas23, Ruy D Arjona-Villicaña24, Karina J Acevedo-Rivera25, Ricardo Allende-Carrera26, Jose A Alvarez27, Jose C Amezcua-Martinez28, Manuel de Los Reyes Barrera-Bustillo29, Gonzalo Carazo-Vargas7, Roberto Contreras-Chacon30, Mario H Figueroa-Andrade31, Ashanty Flores-Ortega32, Hector Garcia-Alcala33, Laura E Garcia de Leon34, Berenice Garcia-Guzman35, Jose J Garduño-Garcia36, Juan C Garnica-Cuellar37, Jose R Gomez-Cruz38, Anell Hernandez-Garcia39, Jesus R Holguin-Almada40, Ursulo Juarez-Herrera7, Fabiola Lugo-Sobrevilla41, Eduardo Marquez-Rodriguez42, Cristina Martinez-Sibaja43, Alma B Medrano-Rodriguez44, Jose C Morales-Oyervides45, Daniel I Perez-Vazquez46, Eduardo A Reyes-Rodriguez47, Ma Ludivina Robles-Osorio48, Juan Rosas-Saucedo49, Margarita Torres-Tamayo7, Luis A Valdez-Talavera34, Luis E Vera-Arroyo50, Eloy A Zepeda-Carrillo51, Carlos A Aguilar-Salinas52. 1. Unidad de Investigación de Enfermedades Metabolicas, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubiran, México City, Mexico; Departamento de Endocrinologia y Metabolismo, Instituto Nacional de Ciencias Médicas y Nutricion Salvador Zubiran, Mexico City, Mexico. 2. Unidad de Investigación de Enfermedades Metabolicas, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubiran, México City, Mexico; Tecnologico de Monterrey, Escuela de Medicina y Ciencias de la Salud, Monterrey, Nuevo Leon, Mexico. 3. Unidad de Investigación de Enfermedades Metabolicas, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubiran, México City, Mexico. 4. Departamento de Endocrinologia y Metabolismo, Instituto Nacional de Ciencias Médicas y Nutricion Salvador Zubiran, Mexico City, Mexico. 5. Secretaria de la Defensa Nacional (SEDENA), Mexico City, Mexico. 6. Hospital Angeles de Culiacan, Culiacan, Sinaloa, Mexico. 7. Instituto Nacional de Cardiologia - Ignacio Chavez, Mexico City, Mexico. 8. Centro Médico Nacional 20 de Noviembre ISSSTE, Mexico City, Mexico. 9. Hospital Puerta de Hierro, Zapopan, Jalisco, Mexico. 10. Instituto de Diabetes Obesidad y Nutricion S.C., Cuernavaca, Morelos, Mexico. 11. Hospital General Zona #2 IMSS, Saltillo, Coahuila, Mexico. 12. Instituto Mexicano del Seguro Social (IMSS) de Durango, Durango, Mexico. 13. Clinica Condomedics, Torreon, Coahuila, Mexico. 14. Centro Medico Nacional S. XXI, Mexico City, Mexico. 15. Hospital Regional Lic. Adolfo Lopez Mateos, Mexico City, Mexico. 16. Hospital General Zona #46 IMSS, Villahermosa, Tabasco, Mexico; Hospital Angeles de Villahermosa, Tabasco, Mexico. 17. Hospital AMERIMED, Cancun, Quintana Roo, Mexico. 18. Tecnologico de Monterrey, Escuela de Medicina y Ciencias de la Salud, Monterrey, Nuevo Leon, Mexico; Centro Medico Nacional del Noreste IMSS, Monterrey, Nuevo Leon, Mexico. 19. Hospital de Cardiologia de Aguascalientes, Aguascalientes, Mexico. 20. Unidad Medica de Alta Especialidad 2 (UMAE), Mexico City, Mexico. 21. Cardiologia Clinica e Intervencionista, Guadalajara, Jalisco, Mexico. 22. SINACOR, Culiacan, Sinaloa, Mexico. 23. Universidad Autonoma de Guadalajara, Guadalajara, Mexico. 24. Hospital Regional de Alta Especialidad, Merida, Yucatan, Mexico. 25. Unidad de Endocrinologia, Tijuana, Baja California, Mexico. 26. Hospital de Especialidades Medicas de la Salud, San Luis Potosi, San Luis Potosi, Mexico. 27. Hospital Central Norte de PEMEX, Mexico City, Mexico. 28. Hospital de Especialidades El Angel, Uruapan, Michoacan, Mexico. 29. Clinica de Merida S.A. de C.V., Merida, Yucatan, Mexico. 30. Instituto Cardiovascular de Penjamo, Penjamo, Guanajuato, Mexico. 31. Hospital General de Zona 1, Colima, Colima, Mexico. 32. Servicios de Salud del Estado de Hidalgo, Pachuca, Hidalgo, Mexico. 33. Hospital Christus Muguerza UPAEP, Puebla, Puebla, Mexico. 34. Centro Hospitalario LA Concepcion, Saltillo, Coahuila, Mexico. 35. Hospital Angeles del Pedregal, Mexico City, Mexico. 36. UAE Mexico - Hospital General Regional #251, IMSS, Toluca, Estado de Mexico, Mexico. 37. Hospital de Especialidades del Centro Medico Nacional, La Raza, Mexico City, Mexico. 38. Hospital Angeles de Xalapa, Xalapa, Veracruz, Mexico. 39. Clinica MD, Oaxaca, Oaxaca, Mexico. 40. Casa del diabetico Hermosillo, Sonora, Mexico. 41. IMSS, Reynosa, Tamaulipas, Mexico. 42. Instituto Jaliscience de Metabolismo, Guadalajara, Jalisco,Mexico. 43. Facultad de Medicina Miguel Aleman, Veracruz, Veracruz, Mexico. 44. Torre MEDYCA, Saltillo, Coahuila, Mexico. 45. Hospital General Regional IMSS 270, Reynosa, Tamaulipas, Mexico. 46. Smart Heart, Cholula, Puebla, Mexico. 47. Hospital Regional PEMEX, Ciudad Madero, Tamaulipas, Mexico. 48. Universidad Autónoma de Querétaro, Queretaro, Mexico. 49. Instituto de Diabetes de Celaya, Guanajuato, Mexico. 50. Centro el Corazon de Coahuila, Torreon, coahuila, Mexico. 51. Hospital Civil Tepic Dr. Antonio Gonzalez Guevara, Tepic, Nayarit, Mexico. 52. Unidad de Investigación de Enfermedades Metabolicas, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubiran, México City, Mexico; Departamento de Endocrinologia y Metabolismo, Instituto Nacional de Ciencias Médicas y Nutricion Salvador Zubiran, Mexico City, Mexico; Direccion de Nutricion, Instituto Nacional de Ciencias Médicas y Nutricion Salvador Zubiran, Mexico City, Mexico; Tecnologico de Monterrey, Escuela de Medicina y Ciencias de la Salud, Monterrey, Nuevo Leon, Mexico. Electronic address: caguilarsalinas@yahoo.com.
Abstract
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.
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.