Familial hypercholesterolemia in Mexico: Initial insights from the national registry

Mehta, Roopa; Martagón, Alexandro J.; Ramírez, Gabriela; Antonio-Villa, Neftalí Eduardo; Vargas‐Vázquez, Arsenio; Elías-López, Daniel; Gonzalez-Retana, Gustavo; Rodríguez-Encinas, Bethsabel; Ceballos-Macías, José Juan; Romero-Zazueta, Alejandro; Martínez-Alvarado, Rocío; Morales-Portano, Julieta D; Álvarez-López, Humberto; Sauque‐Reyna, Leobardo; Gomez-Herrera, Laura G; Simental‐Mendía, Luis E.; García-Aguilar, Humberto; Ramirez-Cooremans, Elizabeth; Peña-Aparicio, Berenice; Mendoza‐Zubieta, Victoria; Carrillo-Gonzalez, Perla A; Ferreira‐Hermosillo, Aldo; Caracas-Portilla, Nacu; Jiménez-Domínguez, Guadalupe; Ruiz-Garcia, Alinna Y; Arriaga-Cázares, Héctor Eliud; Gonzalez-Gonzalez, Jesus R; Mendez-Valencia, Carla V; Padilla, Francisco G.; Madriz-Prado, Ramón; Ríos-Ibarra, Manuel Odin De los; Vázquez-Cárdenas, Alejandra; Arjona-Villicaña, Ruy David; Acevedo-Rivera, Karina J; Allende-Carrera, Ricardo; Álvarez, José Antonio; Amezcua-Martinez, Jose C; Barrera-Bustillo, Manuel de Los Reyes; Carazo-Vargas, Gonzalo; Contreras-Chacon, Roberto; Figueroa-Andrade, Mario H; Flores-Ortega, Ashanty; Garcia-Alcala, Hector; Leon, Laura E Garcia de; Garcia-Guzman, Berenice; Garduño-Garcia, Jose J; Garnica-Cuellar, Juan C.; Gómez-Cruz, José Roberto; Hernandez-Garcia, Anell; Holguin-Almada, Jesus R; Juarez-Herrera, Ursulo; Lugo-Sobrevilla, Fabiola; Márquez-Rodríguez, Eduardo; Martínez-Sibaja, Cristina; Medrano-Rodriguez, Alma B; Morales-Oyervides, Jose C; Perez-Vazquez, Daniel I; Reyes-Rodríguez, Eduardo; Robles‐Osorio, Ludivina; Rosas-Saucedo, Juan; Torres-Tamayo, Margarita; Valdez-Talavera, Luis A; Vera-Arroyo, Luis E; Zepeda-Carrillo, Eloy Alfonso; Aguilar-Salinas, Carlos A.

doi:10.1016/j.jacl.2020.12.001

Cited by 15 publications

(14 citation statements)

References 42 publications

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“…Lp(a) levels were detected only in a few previous studies. Mehta et al found a median Lp(a) level of 30.5 mg/dl (305 mg/L) (Mehta et al, 2021) and other previous European studies reported similar values including the study of Lingenhel et al (27.7 mg/dl; 277 mg/L) (Lingenhel et al, 1998), Alonso et al (23.6 mg/dl; 236 mg/L) (Alonso et al, 2014). Our results are in line with these results.…”

Section: Discussionsupporting

confidence: 92%

Assessment of Associations Between Serum Lipoprotein (a) Levels and Atherosclerotic Vascular Diseases in Hungarian Patients With Familial Hypercholesterolemia Using Data Mining and Machine Learning

et al. 2022

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Background and aims: Premature mortality due to atherosclerotic vascular disease is very high in Hungary in comparison with international prevalence rates, though the estimated prevalence of familial hypercholesterolemia (FH) is in line with the data of other European countries. Previous studies have shown that high lipoprotein(a)- Lp(a) levels are associated with an increased risk of atherosclerotic vascular diseases in patients with FH. We aimed to assess the associations of serum Lp(a) levels and such vascular diseases in FH using data mining methods and machine learning techniques in the Northern Great Plain region of Hungary.Methods: Medical records of 590,500 patients were included in our study. Based on the data from previously diagnosed FH patients using the Dutch Lipid Clinic Network scores (≥7 was evaluated as probable or definite FH), we trained machine learning models to identify FH patients.Results: We identified 459 patients with FH and 221 of them had data available on Lp(a). Patients with FH had significantly higher Lp(a) levels compared to non-FH subjects [236 (92.5; 698.5) vs. 167 (80.2; 431.5) mg/L, p < .01]. Also 35.3% of FH patients had Lp(a) levels >500 mg/L. Atherosclerotic complications were significantly more frequent in FH patients compared to patients without FH (46.6 vs. 13.9%). However, contrary to several other previous studies, we could not find significant associations between serum Lp(a) levels and atherosclerotic vascular diseases in the studied Hungarian FH patient group.Conclusion: The extremely high burden of vascular disease is mainly explained by the unhealthy lifestyle of our patients (i.e., high prevalence of smoking, unhealthy diet and physical inactivity resulting in obesity and hypertension). The lack of associations between serum Lp(a) levels and atherosclerotic vascular diseases in Hungarian FH patients may be due to the high prevalence of these risk factors, that mask the deleterious effect of Lp(a).

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Section: Discussionsupporting

confidence: 92%

Assessment of Associations Between Serum Lipoprotein (a) Levels and Atherosclerotic Vascular Diseases in Hungarian Patients With Familial Hypercholesterolemia Using Data Mining and Machine Learning

et al. 2022

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“…In the literature, there are other recently published registries of different populations including the following: Iran Registry of FH (IRFH) [ 37 ], Arabian Gulf Region Registry—the Gulf FH Registry [ 38 ], Taiwanese Registry [ 39 ], Mexico Registry [ 40 ], Italian Atherosclerosis Society Network Registry (LIPIGEN) [ 41 ], and Spanish Familial Hypercholesterolemia Longitudinal Study (SAFEHEART) [ 42 ]. All those registries are national ones with higher number of included patients.…”

Section: Discussionmentioning

confidence: 99%

“…Ezetimibe was added to LLT in 35.7% of patients. However, the treatment goal was achieved only in 13.7% of patients [ 40 ]. All those registries conclude that still most of FH patients are underdiagnosed and undertreated [ 37 , 38 , 40 ].…”

Section: Discussionmentioning

confidence: 99%

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Clinical Features of Familial Hypercholesterolemia in Children and Adults in EAS-FHSC Regional Center for Rare Diseases in Poland

Lewek

Konopka

Starostecka

et al. 2021

JCM

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Background: Familial hypercholesterolemia (FH) is a genetic autosomal co-dominant metabolic disorder leading to elevated circulating concentrations of low-density lipoprotein cholesterol (LDL-C). Early development of atherosclerotic cardiovascular disease (ASCVD) is common in affected patients. We aimed to evaluate the characteristics and differences in the diagnosis and therapy of FH children and adults. Methods: All consecutive patients who were diagnosed with FH, both phenotypically and with genetic tests, were included in this analysis. All patients are a part of the European Atherosclerosis Society FH-Study Collaboration (FHSC) regional center for rare diseases at the Polish Mother’s Memorial Hospital Research Institute (PMMHRI) in Lodz, Poland. Results: Of 103 patients with FH, there were 16 children (15.5%) at mean age of 9 ± 3 years and 87 adults aged 41 ± 16; 59% were female. Children presented higher mean levels of total cholesterol, LDL-C, and high-density lipoprotein cholesterol (HDL-C) measured at the baseline visit (TC 313 vs. 259 mg/dL (8.0 vs. 6.6 mmol/L), p = 0.04; LDL 247 vs. 192 mg/dL (6.3 vs. 4.9 mmol/L), p = 0.02, HDL 53 vs. 48 mg/dL (1.3 vs. 1.2 mmol/L), p = 0.009). Overall, 70% of adult patients and 56% of children were prescribed statins (rosuvastatin or atorvastatin) on admission. Combination therapy (dual or triple) was administered for 24% of adult patients. Furthermore, 13.6% of adult patients and 19% of children reported side effects of statin therapy; most of them complained of muscle pain. Only 50% of adult patients on combination therapy achieved their treatment goals. None of children achieved the treatment goal. Conclusions: Despite a younger age of FH diagnosis, children presented with higher mean levels of LDL-C than adults. There are still urgent unmet needs concerning effective lipid-lowering therapy in FH patients, especially the need for greater use of combination therapy, which may allow LDL-C targets to be met in most of the patients.

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“…Universal screening of plasma lipid levels during childhood has been trialed in some parts of Japan and we expect that such trials on local universal screening will lead to a nationwide system. In addition, reverse cascade screening, in which family members are screened on the basis of child probands, and continued worldwide registry research should improve the effectiveness of finding FH [68][69][70][71][72][73][74][75][76] .…”

Section: ) Pediatric Hofhmentioning

confidence: 99%

Homozygous Familial Hypercholesterolemia

Nohara

Tada

Ogura

et al. 2021

JAT

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Early diagnosis and initiation of lipid-lowering therapy is essential for preventing development of cardiovascular complications, even in Japan where cardiovascular disease is not the leading cause of death and its prevalence among FH patients seems to be somewhat lower than in Western countries. Heterozygous FH (HeFH) patients who carry the mutated gene in a single allele have plasma LDL cholesterol (LDL-C) levels double normal or higher and may experience the first cardiovascular event as

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Familial hypercholesterolemia in Mexico: Initial insights from the national registry

Cited by 15 publications

References 42 publications

Assessment of Associations Between Serum Lipoprotein (a) Levels and Atherosclerotic Vascular Diseases in Hungarian Patients With Familial Hypercholesterolemia Using Data Mining and Machine Learning

Assessment of Associations Between Serum Lipoprotein (a) Levels and Atherosclerotic Vascular Diseases in Hungarian Patients With Familial Hypercholesterolemia Using Data Mining and Machine Learning

Clinical Features of Familial Hypercholesterolemia in Children and Adults in EAS-FHSC Regional Center for Rare Diseases in Poland

Homozygous Familial Hypercholesterolemia

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