ABSTRACT
ANTECEDENTES Y OBJETIVO: la hipercolesterolemia familiar heterocigota (HFH) es el trastorno del metabolismo lipídico monogénico más común que se asocia a patología cardiovascular prematura. Nuestro objetivo fue describir el grado de control metabólico, el perfil cardiovascular y la adherencia a la dieta mediterránea de una cohorte de pacientes con HFH. MATERIAL Y MÉTODOS: estudio de cohortes retrospectivo de casos índices y familiares diagnosticados genéticamente de HFH desde 2009 a 2017. Se analizaron los datos antropométricos, clínicos, analíticos, del estudio genético y del tratamiento. RESULTADOS: se estudiaron 138 sujetos con una edad media de 48,8 (17,7) años, el 55,8 % mujeres. Se encontró la mutación positiva en el 55,8 %. La media de colesterol total al diagnóstico fue de 281,1 (68,4) mg/dl y la de LDL de 204 (65) mg/dl. El 10,1 % presentaban cardiopatía isquémica previa. Entre los casos familiares se observó una menor edad media [32,89 (19,2) años vs. 50,3 (17,6) años, p < 0,001], así como valores de LDL inferiores en el momento del diagnóstico [181,9 (64,3) mg/dl vs. 226,8 (52) mg/dl, p < 0,005] en comparación con los casos índice. Se evidenció una correlación positiva entre dosis de tratamiento hipolipemiante y reducción de los niveles de LDL (r = 0,254, p < 0,05), aunque solo el 30 % de los pacientes alcanzaron sus objetivos de LDL. Los pacientes con HFH presentaron una elevada adherencia a la dieta mediterránea, con una puntuación media de 9,5 (1,9) en el test Predimed. CONCLUSIONES: la detección precoz de la HFH es necesaria para prevenir eventos cardiovasculares prematuros. El diagnóstico de casos familiares anticipa el tratamiento de los pacientes con HFH. Los pacientes con HFH están más sensibilizados sobre la adherencia a las dietas cardiosaludables
INTRODUCTION AND OBJECTIVE: familial heterozygous hypercholesterolemia (HFH) is the most common monogenic lipid metabolism disorder that associates premature cardiovascular disease. Our aim was to describe the degree of metabolic control, cardiovascular profile, and adherence to the Mediterranean diet in a cohort of HFH patients. Subjects and methods: a retrospective cohort study of the index cases and their relatives genetically diagnosed with HFH by the Endocrinology and Nutrition Service in the HCUV from 2009 to 2017. Anthropometric, clinical, laboratory, genetic, and treatment data were analyzed. RESULTS: a total of 138 subjects were studied, with a mean age of 48.8 (17.7) years, 55.8 % of them women. A gene mutation was found in 55.8 %, and 10.1 % had previous ischemic heart disease. At diagnosis mean total cholesterol was 281.1 (68.4) mg/dL, and LDL-C was 204 (65) mg/dL. Among family cases, at diagnosis, a lower mean age was observed [32.89 (19.2) years vs 50.3 (17.6) years, p < 0.001] as well as lower LDL values [181.9 (64.3) mg/dL vs 226.8 (52) mg/dL, p < 0.005] as compared to index cases. A positive correlation was observed between lipid-lowering treatment dose and LDL level reduction (r = 0.254, p < 0.05), although only 30 % of patients reached their LDL target. Patients with HFH were highly adherent to Mediterranean diet, with an average score of 9.5 (1.9) in the Predimed test. CONCLUSIONS: early HFH detection is necessary to prevent premature cardiovascular events. A diagnosis of cases among family members anticipates the treatment of patients with HFH. Patients with HFH are more sensitive to heart-healthy diets
Subject(s)
Humans , Female , Middle Aged , Treatment Adherence and Compliance , Diet, Mediterranean , Hyperlipoproteinemia Type II/diet therapy , Public Health/standards , Cardiovascular Diseases/prevention & control , Retrospective Studies , Cohort Studies , Early Diagnosis , Hyperlipoproteinemia Type II/genetics , Body Mass IndexABSTRACT
INTRODUCTION: Introduction and objective: familial heterozygous hypercholesterolemia (HFH) is the most common monogenic lipid metabolism disorder that associates premature cardiovascular disease. Our aim was to describe the degree of metabolic control, cardiovascular profile, and adherence to the Mediterranean diet in a cohort of HFH patients. Subjects and methods: a retrospective cohort study of the index cases and their relatives genetically diagnosed with HFH by the Endocrinology and Nutrition Service in the HCUV from 2009 to 2017. Anthropometric, clinical, laboratory, genetic, and treatment data were analyzed. Results: a total of 138 subjects were studied, with a mean age of 48.8 (17.7) years, 55.8% of them women. A gene mutation was found in 55.8%, and 10.1% had previous ischemic heart disease. At diagnosis mean total cholesterol was 281.1 (68.4) mg/dL, and LDL-C was 204 (65) mg/dL. Among family cases, at diagnosis, a lower mean age was observed [32.89 (19.2) years vs 50.3 (17.6) years, p < 0.001] as well as lower LDL values [181.9 (64.3) mg/dL vs 226.8 (52) mg/dL, p < 0.005] as compared to index cases. A positive correlation was observed between lipid-lowering treatment dose and LDL level reduction (r = 0.254, p < 0.05), although only 30% of patients reached their LDL target. Patients with HFH were highly adherent to Mediterranean diet, with an average score of 9.5 (1.9) in the Predimed test. Conclusions: early HFH detection is necessary to prevent premature cardiovascular events. A diagnosis of cases among family members anticipates the treatment of patients with HFH. Patients with HFH are more sensitive to heart-healthy diets.
INTRODUCCIÓN: Antecedentes y objetivo: la hipercolesterolemia familiar heterocigota (HFH) es el trastorno del metabolismo lipídico monogénico más común que se asocia a patología cardiovascular prematura. Nuestro objetivo fue describir el grado de control metabólico, el perfil cardiovascular y la adherencia a la dieta mediterránea de una cohorte de pacientes con HFH. Material y métodos: estudio de cohortes retrospectivo de casos índices y familiares diagnosticados genéticamente de HFH desde 2009 a 2017. Se analizaron los datos antropométricos, clínicos, analíticos, del estudio genético y del tratamiento. Resultados: se estudiaron 138 sujetos con una edad media de 48,8 (17,7) años, el 55,8% mujeres. Se encontró la mutación positiva en el 55,8%. La media de colesterol total al diagnóstico fue de 281,1 (68,4) mg/dl y la de LDL de 204 (65) mg/dl. El 10,1% presentaban cardiopatía isquémica previa. Entre los casos familiares se observó una menor edad media [32,89 (19,2) años vs. 50,3 (17,6) años, p < 0,001], así como valores de LDL inferiores en el momento del diagnóstico [181,9 (64,3) mg/dl vs. 226,8 (52) mg/dl, p < 0,005] en comparación con los casos índice. Se evidenció una correlación positiva entre dosis de tratamiento hipolipemiante y reducción de los niveles de LDL (r = 0,254, p < 0,05), aunque solo el 30% de los pacientes alcanzaron sus objetivos de LDL. Los pacientes con HFH presentaron una elevada adherencia a la dieta mediterránea, con una puntuación media de 9,5 (1,9) en el test Predimed. Conclusiones: la detección precoz de la HFH es necesaria para prevenir eventos cardiovasculares prematuros. El diagnóstico de casos familiares anticipa el tratamiento de los pacientes con HFH. Los pacientes con HFH están más sensibilizados sobre la adherencia a las dietas cardiosaludables.
Subject(s)
Diet, Mediterranean , Hemodynamics/physiology , Hyperlipoproteinemia Type II/genetics , Hyperlipoproteinemia Type II/metabolism , Adult , Aged , Aged, 80 and over , Cholesterol, LDL/blood , Cohort Studies , Female , Humans , Male , Middle Aged , Mutation/genetics , Patient Compliance , Public Health , Retrospective Studies , Sex Factors , SpainABSTRACT
Like rheumatoid arthritis, ankylosing spondylitis (AS) is also an inflammatory disease associated with accelerated atherosclerosis and the presence of metabolic syndrome (MeS) features. AS patients often display osteoporosis as well as new bone formation. Insulin-like growth factor 1 (IGF-1) is a protein involved in both inflammation and bone metabolism. In the present study we assessed whether disease activity, systemic inflammation, MeS features, adipokines, and biomarkers of endothelial activation were associated with IGF-1 and insulin-like growth factor binding protein-3 (IGFBP-3) levels in a series of 30 nondiabetic AS patients without CV disease undergoing TNF-α antagonist-infliximab therapy. All determinations were made in the fasting state, immediately before an infliximab infusion. Although no association of IGF-1 and IGFBP-3 levels with angiopoietin-2 or osteopontin was found, an inverse correlation between IGF-1 levels and asymmetric dimethylarginine (ADMA), an endogenous endothelial nitric oxide synthase inhibitor that impairs nitric oxide production and secretion promoting endothelial dysfunction, was found (r=-0.397; P=0.04). However, no significant association was found between IGF-1 and IGFBP-3 levels and disease activity, systemic inflammation, metabolic syndrome features, or adipokines. In conclusion, in nondiabetic patients with AS undergoing periodic anti-TNF-α therapy, IGF-1 and ADMA are inversely correlated.
Subject(s)
Arginine/analogs & derivatives , Inflammation/genetics , Insulin-Like Growth Factor I/metabolism , Metabolic Syndrome/genetics , Spondylitis, Ankylosing/genetics , Adipokines/genetics , Antibodies, Monoclonal/administration & dosage , Arginine/genetics , Arginine/metabolism , Female , Humans , Inflammation/drug therapy , Inflammation/pathology , Infliximab , Insulin-Like Growth Factor Binding Protein 3/genetics , Insulin-Like Growth Factor I/genetics , Male , Metabolic Syndrome/complications , Metabolic Syndrome/drug therapy , Metabolic Syndrome/pathology , Nitric Oxide/metabolism , Nitric Oxide Synthase/antagonists & inhibitors , Osteopontin/metabolism , Osteoporosis/complications , Osteoporosis/genetics , Osteoporosis/pathology , Spondylitis, Ankylosing/complications , Spondylitis, Ankylosing/drug therapy , Tumor Necrosis Factor-alpha/antagonists & inhibitorsABSTRACT
A 45-year-old woman, with a history of asymmetric facial flushing, was presented to the Endocrinology Unit after pituitary macroadenoma removal. After other pathological entities had been ruled out, she was diagnosed with harlequin syndrome following a lesion of the postganglionic sympathetic fibers during transsphenoidal pituitary macroadenoma surgery. We herein report the first case of harlequin syndrome following transsphenoidal pituitary surgery. We describe this difficult and benign diagnosis along with its characteristic imaging.