Advertisement

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

  • Roopa Mehta
    Affiliations
    Unidad de Investigación de Enfermedades Metabólicas, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico

    Departamento de Endocrinología y Metabolismo, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico
    Search for articles by this author
  • Alexandro J. Martagon
    Affiliations
    Unidad de Investigación de Enfermedades Metabólicas, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico

    Tecnologico de Monterrey, Escuela de Medicina y Ciencias de la Salud, Mexico
    Search for articles by this author
  • Gabriela A. Galan Ramirez
    Affiliations
    Unidad de Investigación de Enfermedades Metabólicas, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico
    Search for articles by this author
  • Gustavo Gonzalez Retana
    Affiliations
    Departamento de Endocrinología y Metabolismo, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico
    Search for articles by this author
  • Magdalena Martinez-Beltran
    Affiliations
    Departamento de Endocrinología y Metabolismo, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico
    Search for articles by this author
  • Arsenio Vargas Vazquez
    Affiliations
    Unidad de Investigación de Enfermedades Metabólicas, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico
    Search for articles by this author
  • Alejandra Vazquez-Cardenas
    Affiliations
    Facultad de Medicina, Universidad Autónoma de Guadalajara, Av. Patria 1201, Lomas del Valle, 45129, Zapopan, Jal, Mexico
    Search for articles by this author
  • Carlos A. Aguilar-Salinas
    Correspondence
    Corresponding author. Unidad de Investigación de Enfermedades Metabólicas, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán/Department of Endocrinology and Metabolism, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán. Vasco de Quiroga 15. Tlalpan. Mexico City. 14008. Mexico.
    Affiliations
    Unidad de Investigación de Enfermedades Metabólicas, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico

    Departamento de Endocrinología y Metabolismo, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico

    Tecnologico de Monterrey, Escuela de Medicina y Ciencias de la Salud, Mexico
    Search for articles by this author

      Highlights

      • In México, familial hypercholesterolemia (FH) is largely underdiagnosed and undertreated.
      • The Mexican FH registry (www.fhmexico.org.mx) was launched in December 2017 to address the gaps in knowledge regarding this disease.
      • The Mexican FH registry (www.fhmexico.org.mx) aims to obtain real world information regarding the management of patients in this country.

      Abstract

      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 ± 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 ± 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.

      Keywords

      To read this article in full you will need to make a payment

      Purchase one-time access:

      Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
      One-time access price info
      • For academic or personal research use, select 'Academic and Personal'
      • For corporate R&D use, select 'Corporate R&D Professionals'

      Subscribe:

      Subscribe to Atherosclerosis
      Already a print subscriber? Claim online access
      Already an online subscriber? Sign in
      Institutional Access: Sign in to ScienceDirect

      References

        • Singh S.
        • Bittner V.
        Familial hypercholesterolemia—Epidemiology, diagnosis, and screening.
        Curr. Atherosclerosis Rep. 2015; 17: 482-485
        • Mundal L.
        • Retterstl K.
        A systematic review of current studies in patients with familial hypercholesterolemia by use of national familial hypercholesterolemia registries.
        Curr. Opin. Lipidol. 2016; 27: 388-397
        • Nordestgaard B.G.
        • Chapman M.J.
        • Humphries S.E.
        • et al.
        Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society.
        Eur. Heart J. 2013; 34 (3478a–90a)
        • Haralambos K.
        • Ashfield-Watt P.
        • McDowell I.
        Diagnostic scoring for familial hypercholesterolaemia in practice.
        Curr. Opin. Lipidol. 2016; 27: 367-374
        • Scientific Steering Committee on behalf of the Simon Broome Register Group
        Risk of fatal coronary heart disease in familial hypercholesterolaemia.
        BMJ. 1991; 303: 893-896
        • Williams R.
        • Hunt S.
        • Schumacher M.
        • Hegele R.
        • Leppert M.
        • Ludwig E.
        • Hopkins P.
        Diagnosing heterozygous familial hypercholesterolemia using new practical criteria validated by molecular genetics.
        Am. J. Cardiol. 1993; 72: 171-176
        • Mehta R.
        • Zubiran R.
        • Martagon A.
        • et al.
        The panorama of familial hypercholesterolemia in Latin America: a systematic review.
        J. Lipid Res. 2016; 57: 2115-2129
        • Vallejo-Vaz A.J.
        • Kondapally Seshasai S.R.
        • Cole D.
        • et al.
        Familial hypercholesterolaemia: a global call to arms.
        Atherosclerosis. 2015; 243: 257-259
        • Vallejo-Vaz A.J.
        • Akram A.
        • Kondapally Seshasai S.R.
        • et al.
        • EAS Familial Hypercholesterolaemia Studies Collaboration
        Pooling and expanding registries of familial hypercholesterolaemia to assess gaps in care and improve disease management and outcomes: rationale and design of the global EAS Familial Hypercholesterolaemia Studies Collaboration.
        Atheroscler Suppl Dec. 2016; 22: 1-32
        • National Committee on Vital and Health Statistics
        Frequently Asked Questions about Medical and Public Health Registries.
        August 14, 2012
      1. Gliklich R.E. Dreyer N.A. Leavy M.B. Registries for Evaluating Patient Outcomes: a User's Guide [Internet]. third ed. Agency for Healthcare Research and Quality (US), Rockville (MD)2014 Apr (Section I, Creating Registries)
        • Kindt I.
        • Mata P.
        • Knowles J.W.
        The role of registries and genetic databases in familial hypercholesterolemia.
        Curr. Opin. Lipidol. 2017; 28: 152-160
        • Humphries S.E.
        • Whittall R.A.
        • Hubbart C.S.
        • Maplebeck S.
        • Cooper J.A.
        • Soutar A.
        • Naoumova R.
        • Thompson G.R.
        • Seed M.
        • Durrington P.N.
        Genetic causes of Familial Hypercholesterolaemia in UK patients: relation to plasma lipid levels and coronary heart disease risk.
        J. Med. Genet. 2006; 43: 943-949
        • Ramaswami U.
        • Cooper J.
        • Humphries S.E.
        The UK paediatric familial hypercholesterolaemia register: preliminary data.
        Arch. Dis. Child. 2017; 102: 255-260
        • Mundal L.
        • Veierød M.B.
        • Halvorsen T.
        • Holven K.B.
        • Ose L.
        • Iversen P.O.
        • Tell G.S.
        • Leren T.P.
        • Retterstøl K.
        2016. Cardiovascular disease in patients with genotyped familial hypercholesterolemia in Norway during 1994–2009, a registry study.
        Eur J Prev Cardiol. 2016; 23: 1962-1969
        • Umans-Eckenhausen M.A.
        • Defesche J.C.
        • Sijbrands E.J.
        • Scheerder R.L.
        • Kastelein J.J.
        Review of first 5 years of screening for familial hypercholesterolaemia in The Netherlands.
        Lancet. 2001; 357: 165-168
        • O'Brien E.C.
        • Roe M.T.
        • Fraulo E.S.
        • Peterson E.D.
        • Ballantyne C.M.
        • Genest J.
        • Gidding S.S.
        • Hammond E.
        • Hemphill L.C.
        • Hudgins L.C.
        Rationale and design of the familial hypercholesterolemia foundation CAscade SCreening for Awareness and DEtection of Familial Hypercholesterolemia registry.
        Am. Heart J. 2014; 167: 342-349
        • Wong S.
        • Taraboanta C.
        • Francis G.A.
        • Ignaszewski A.
        • Frohlich J.
        The british columbia familial hypercholesterolemia registry.
        BCMJ. 2013; 55: 326-330
        • Mata N.
        • Alonso R.
        • Badimón L.
        • Padró T.
        • Fuentes F.
        • Muñiz O.
        • Perez-Jiménez F.
        • López-Miranda J.
        • Díaz J.L.
        • Vidal J.I.
        Clinical characteristics and evaluation of LDL cholesterol treatment of the Spanish familial hypercholesterolemia longitudinal cohort study (SAFEHEART).
        Lipids Health Dis. 2011; 10: 94
        • Bamimore M.A.
        • Zaid A.
        • Banerjee Y.
        • et al.
        Familial hypercholesterolemia mutations in the Middle Eastern and North African region: a need for a national registry.
        J Clin Lipidol. 2015; 9: 187-194
        • Bellgard M.I.
        • Walker C.E.
        • Napier K.R.
        Design of the familial hypercholesterolaemia Australasia network registry: creating opportunities for greater international collaboration.
        J. Atherosclerosis Thromb. 2017; 24: 1075-1084
        • Rizos C.V.
        • Athyros V.
        • Bilianou E.
        • et al.
        An insight into familial hypercholesterolemia in Greece: rationale and design of the Hellenic Familial Hypercholesterolemia Registry (Hellas-FH).
        Hormones (Basel). 2017; 16: 306-312
        • Kayıkçıoğlu M.
        • Tokgözoğlu L.
        The rationale and design of the national familial hypercholesterolemia registries in Turkey: a-HIT1 and A-HIT2 studies.
        Turk Kardiyol. Dernegi Arsivi. 2017; 45: 261-267
        • Alallaf F.
        • H Nazar F.A.
        • Alnefaie M.
        • Almaymuni A.
        • Rashidi O.M.
        • Alhabib K.
        • Alnouri F.
        • Alama M.N.
        • Athar M.
        • Awan Z.
        The spectrum of familial hypercholesterolemia (FH) in Saudi Arabia: prime time for patient FH registry.
        Open Cardiovasc. Med. J. 2017; 11: 66-75
        • Rabes J.P.
        • Beliard S.
        • Carrie A.
        Familial hypercholesterolemia: experience from France.
        Curr. Opin. Lipidol. 2018; 2018: 65-71
        • Ramaswami U.
        • Cooper J.
        • Humphries S.E.
        The UK paediatric familial hypercholesterolaemia register: preliminary data.
        Arch. Dis. Child. 2017; 102: 255-260
        • Toleikyte I.
        • Retterstøl K.
        • Leren T.P.
        • Iversen P.O.
        Pregnancy outcomes in familial hypercholesterolemia. A registry-based study.
        Circulation. 2011; 124: 1606-1614
        • Mundal L.
        • Igland J.
        • Ose L.
        • et al.
        Cardiovascular disease mortality in patients with genetically verified familial hypercholesterolemia in Norway during 1992–2013.
        Eur J Prev Cardiol. 2017; 24: 137-144
        • Wong B.
        • Kruse G.
        • Kutikova L.
        • et al.
        Cardiovascular disease risk associated with familial hypercholesterolemia: a systematic review of the literature.
        Clin. Therapeut. 2016; 38: 1696-1709
        • deGoma E.M.
        • Ahmad Z.S.
        • O'Brien E.C.
        • et al.
        Treatment gaps in adults with heterozygous familial hypercholesterolemia in the United States: data from the CASCADE-FH registry.
        Circ Cardiovasc Genet. 2016; 9: 240-249
        • Amrock S.M.
        • Duell P.B.
        • Knickebine T.
        • et al.
        Health disparities among adult patients with a phenotypic diagnosis of familial hypercholesterolemia in the CASCADE-FH patient registry.
        Atherosclerosis. 2017; 267: 19-26
        • Kindt I.
        • Mata P.
        • Knowles J.W.
        The role of registries and genetic databases in familial hypercholesterolemia.
        Curr. Opin. Lipidol. 2017; 28: 152-160
        • Perez de Isla L.
        • Alonso R.
        • Mata N.
        • et al.
        Coronary heart disease, peripheral arterial disease, and stroke in familial hypercholesterolaemia: insights from the SAFEHEART Registry (Spanish Familial Hypercholesterolaemia Cohort Study).
        Arterioscler. Thromb. Vasc. Biol. 2016; 36: 2004-2010
        • Gidding S.S.
        • Champagne M.A.
        • de Ferranti S.D.
        • et al.
        The agenda for familial hypercholesterolemia: a scientific statement from the American Heart Association.
        Circulation. 2015; 132: 2167-2192
        • Genest J.
        • Hegele R.A.
        • Bergeron J.
        • et al.
        Canadian Cardiovascular Society position statement on familial hypercholesterolemia.
        Can. J. Cardiol. 2014; 30: 1471-1481
        • Khera A.V.
        • Won H.H.
        • Peloso G.M.
        • et al.
        Diagnostic yield and clinical utility of sequencing familial hypercholesterolemia genes in patients with severe hypercholesterolemia.
        J. Am. Coll. Cardiol. 2016; 67: 2578-2589
        • Gómez-Dantés O.
        • Sesma S.
        • Becerril V.M.
        • Knaul F.M.
        • Arréola H.
        • Frenk J.
        Sistema de salud de México.
        Salud Publica Mex. 2011; 53: s220-s232
        • Santos R.D.
        • Bourbon M.
        • Alonso R.
        • Cuevas A.
        • Vasques-Cardenas N.A.
        • Pereira A.C.
        • et al.
        Clinical and molecular aspects of familial hypercholesterolemia in Ibero-American countries.
        J Clin Lipidol. 2017; 11: 160-166