Cardiovascular manifestations of intermediate and major hyperhomocysteinemia due to vitamin B12 and folate deficiency and/or inherited disorders of one-carbon metabolism: a 3.5-year retrospective cross-sectional study of consecutive patients

Autor: Elise Jeannesson, Julien Levy, Stéphane Ziuly, Rosa-Maria Rodriguez-Guéant, Jean-Louis Guéant, Abderrahim Oussalah, Denis Wahl
Přispěvatelé: Biochimie – Biologie moléculaire et Nutrition [CHRU Nancy], Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Nutrition-Génétique et Exposition aux Risques Environnementaux (NGERE), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), Défaillance Cardiovasculaire Aiguë et Chronique (DCAC), Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), This study was funded by FHU ARRIMAGE and the French Agence Nationale de la Recherche, PIA project, Lorraine Université d’Excellence, reference ANR-15-IDEX-04-LUE., IMPACT GEENAGE, ANR-15-IDEX-0004,LUE,Isite LUE(2015)
Rok vydání: 2021
Předmět:
Adult
Male
0301 basic medicine
Vitamin
medicine.medical_specialty
Hyperhomocysteinemia
Homocysteine
Cross-sectional study
[SDV]Life Sciences [q-bio]
Methylmalonic acid
Medicine (miscellaneous)
thromboembolic manifestations
inborn errors of metabolism
Folic Acid Deficiency
030204 cardiovascular system & hematology
folate
Gastroenterology
03 medical and health sciences
chemistry.chemical_compound
Folic Acid
0302 clinical medicine
Internal medicine
medicine
Humans
Vitamin B12
Retrospective Studies
2. Zero hunger
Nutrition and Dietetics
business.industry
Genetic disorder
homocysteine
vitamin B12
Middle Aged
medicine.disease
cardiovascular disease risk
3. Good health
Vitamin B 12
Malnutrition
Cross-Sectional Studies
030104 developmental biology
chemistry
Cardiovascular Diseases
Child
Preschool

1-carbon metabolism
Female
business
Metabolism
Inborn Errors

Methylmalonic Acid
Zdroj: American Journal of Clinical Nutrition
American Journal of Clinical Nutrition, American Society for Nutrition, 2021, 113 (5), pp.1157-1167. ⟨10.1093/ajcn/nqaa432⟩
ISSN: 0002-9165
DOI: 10.1093/ajcn/nqaa432
Popis: International audience; ABSTRACT Background The association of moderate hyperhomocysteinemia (HHcy) (15–30 μmol/L) with cardiovascular diseases (CVD) has been challenged by the lack of benefit of vitamin supplementation to lowering homocysteine. Consequently, the results of interventional studies have confused the debate regarding the management of patients with intermediate/severe HHcy. Objective We sought to evaluate the association of intermediate (30–100 μmol/L) and severe (>100 μmol/L) HHcy related to vitamin deficiencies and/or inherited disorders with CVD outcomes. Methods We performed a retrospective cross-sectional study on consecutive patients who underwent a homocysteine assay in a French University Regional Hospital Center. Patients with CVD outcomes were assessed for vitamin B12, folate, Hcy, methylmalonic acid, and next-generation clinical exome sequencing. Results We evaluated 165 patients hospitalized for thromboembolic and other cardiovascular (CV) manifestations among 1006 patients consecutively recruited. Among them, 84% (138/165) had Hcy >30 μmol/L, 27% Hcy >50 μmol/L (44/165) and 3% Hcy >100 μmol/L (5/165). HHcy was related to vitamin B12 and/or folate deficiency in 55% (87/165), mutations in one or more genes of one-carbon and/or vitamin B12 metabolisms in 11% (19/165), and severe renal failure in 15% (21/141) of the studied patients. HHcy was the single vascular risk retrieved in almost 9% (15/165) of patients. Sixty % (101/165) of patients received a supplementation to treat HHcy, with a significant decrease in median Hcy from 41 to 17 µmol/L (IQR: 33.6–60.4 compared with 12.1–28). No recurrence of thromboembolic manifestations was observed after supplementation and antithrombotic treatment of patients who had HHcy as a single risk, after ∼4 y of follow-up. Conclusion The high frequency of intermediate/severe HHcy differs from the frequent moderate HHcy reported in previous observational studies of patients with pre-existing CVD. Our study points out the importance of diagnosing and treating nutritional deficiencies and inherited disorders to reverse intermediate/severe HHcy associated with CVD outcomes.
Databáze: OpenAIRE