ABSTRACT
Familial hypercholesterolemia (FH) is an autosomal dominant inherited disease caused by abnormal lipoprotein metabolism. Patients with FH have a significantly increased risk of coronary artery disease (CAD) due to long-term exposure to high levels of low-density lipoprotein (LDL). The diagnosis of FH relies heavily on gene detection, and examination of LDL receptor (LDLR) function is of great significance in its treatment. This review summarizes the current advances in the screening, diagnosis, and treatment of FH and functional analysis of LDLR gene mutations.
Subject(s)
Humans , Hyperlipoproteinemia Type II/therapy , Coronary Artery Disease , Lipoproteins, LDL , MutationABSTRACT
Objective: We evaluated the safety and efficacy of lipoprotein apheresis (LA) in patients with familial hypercholesterolemia (FH) who can't reach low-density lipoprotein cholesterol(LDL-C) target goals with the maximal tolerated dose of lipid-lowering agents. Methods: This was a retrospective cross-sectional study. Between February 2015 and November 2019, patients with FH who were admitted in Fuwai hospital and treated with LA were consecutively enrolled. Based on intensive lipid-lowering agents, these patients received LA by double filtration plasma pheresis (DFPP) method. The changes of lipid levels such as LDL-C and lipoprotein(a)[Lp(a)] were compared before and after LA treatment, and the changes of immunoglobulin (Ig) concentration and LA-related adverse effects were also discussed. Results: A total of 115 patients with FH were enrolled in this study, of which 8 cases were homozygous FH and 107 cases were heterozygous FH. The age was (43.9±12.2) years and there were 75 (65.2%) males, and 108 (93.8%) with coronary artery disease. For pre-and immediately after LA treatment, the LDL-C was (5.20±2.94) mmol/L vs. (1.83±1.08) mmol/L, Lp(a) concentration was 428.70(177.00, 829.50)mg/L vs. 148.90(75.90, 317.00) mg/L (P<0.001), with a decrease of 64.2% and 59.8% respectively. The levels of IgG and IgA measured 1 day after LA treatment were both in the normal range and IgM concentration was below the reference value, the reductions of which were 15.1%, 25.0% and 58.7% respectively (P<0.001). Six patients had mild symptoms of nausea, hypotension dyspnea and palpitation, the symptoms were relieved by symptomatic treatment. Conclusion: For patients with FH who do not achieve LDL-C target goal with the maximal tolerated lipid-lowering agents, especially those with elevated Lp(a) levels, LA, which can significantly further reduce LDL-C and Lp(a) levels, is an effective and safe option.
Subject(s)
Adult , Female , Humans , Male , Middle Aged , Blood Component Removal/methods , Cholesterol, LDL , Cross-Sectional Studies , Hyperlipoproteinemia Type II/therapy , Lipoprotein(a)/chemistry , Lipoproteins/chemistry , Retrospective StudiesABSTRACT
La Hipercolesterolemia Familiar (HF) es una enfermedad hereditaria frecuente que se caracteriza por niveles elevados de colesterol ligado a las lipoproteínas de baja densidad (C-LDL). El exceso de LDL se acumula en las arterias produciendo aterosclerosis prematura. El diagnóstico y tratamiento desde la infancia mejoran el pronóstico de la enfermedad. Existe subdiagnóstico de la HF lo que provoca muertes prematuras por enfermedad cardiovascular (ECV). Para mejorar el subdiagnóstico la Sociedad Argentina de Pediatría propuso en el año 2015 realizar tamizaje universal al ingreso escolar. Es relevante entonces que el pediatra pueda diagnosticar la hipercolesterolemia y diferenciar las hipercolesterolemias monogénicas o familiares, de las secundarias (AU)
Familial hypercholesterolemia (FH) is a common hereditary disease that is characterized by high cholesterol levels, linked to low-density lipoproteins (LDL). Excess LDL accumulates in the arteries leading to premature atherosclerosis. Early diagnosis and treatment since childhood improve the prognosis of the disease. FH is underdiagnosed resulting in premature death due to cardiovascular disease (CVD). To improve diagnosis, in 2015 the Argentine Society of Pediatrics proposed a universal screening program at school age. It is relevant, therefore, for the pediatrician to be able to diagnose hypercholesterolemia and differentiate monogenic or familial from secondary hypercholesterolemia (AU)
Subject(s)
Humans , Child, Preschool , Child , Adolescent , Cardiovascular Diseases/prevention & control , Cholesterol/metabolism , Hyperlipoproteinemia Type II/diagnosis , Hyperlipoproteinemia Type II/physiopathology , Hyperlipoproteinemia Type II/genetics , Hyperlipoproteinemia Type II/therapy , Mass Screening , Diagnosis, Differential , Anticholesteremic Agents/therapeutic useSubject(s)
Humans , Female , Adult , Diagnosis , Hyperlipoproteinemia Type II/diagnosis , Hyperlipoproteinemia Type II/therapy , Therapeutics/methods , Ankle Brachial Index/methods , Atherosclerosis , Atorvastatin/administration & dosage , Cholesterol, LDL/blood , Peripheral Arterial Disease , Rosuvastatin Calcium/administration & dosageABSTRACT
Platelet aggregation was studied in a patient with familial hypercholesterolemia immediately after aphereis selective for low-density lipoprotein (LDL), a lipid-lowering procedure. This treatment reduced plasmatic levels of total and LDL-cholesterol, apo B, and triglyceride. Increased platelet aggregation was reduced immediately after the apheresis in whole blood as well as in platelet-rich plasma. However, aggregation in washed platelets remained unchanged after LDL-apheresis. In conclusion, in this patient reduction of LDL-cholesterol improved platelet function in the very short term.
Subject(s)
Adult , Female , Humans , Blood Component Removal , Platelet Aggregation , Hyperlipoproteinemia Type II/therapy , Lipoproteins, LDL , Time Factors , Triglycerides/blood , Hyperlipoproteinemia Type II/blood , Cholesterol, HDL/blood , Cholesterol, LDL/bloodSubject(s)
Humans , Metabolic Diseases/therapy , Genetic Therapy , Genetic Vectors/physiology , Adenosine Deaminase/deficiency , Adenosine Deaminase/therapeutic use , beta-Thalassemia/therapy , Metabolic Diseases , Metabolic Diseases/genetics , Gene Expression/physiology , Cystic Fibrosis/therapy , Gaucher Disease/therapy , Genetic Therapy/classification , Genetic Therapy/trends , Genetics, Medical/methods , Hemophilia B/therapy , Hyperlipoproteinemia Type II/therapy , Muscular Dystrophies/therapy , Neoplasms/therapy , Genetic Vectors/therapeutic useABSTRACT
Os autores relatam um caso de hiperlipoproteinemia tipo IIa, em paciente feminina, branca, 31 anos, com exuberante associaçao de xantelasma, xantoma tendinoso, xantoma tuberoso e hipertensao arterial. O diagnóstico foi estabelecido através dos exames: clínico, lipidograma e histopatológico. Foi feita também uma revisao da literatura.
Subject(s)
Humans , Female , Adult , Eyelid Diseases/diagnosis , Hyperlipoproteinemia Type II/diagnosis , Xanthomatosis/diagnosis , Axilla , Buttocks , Diet , Eyelid Diseases/therapy , Elbow , Fingers , Hyperlipoproteinemia Type II/therapy , Knee , Thigh , Xanthomatosis/therapyABSTRACT
Los perfiles de los tipos clásicos mencionados pueden encontrarse en forma aislada o en diversas combinaciones. Muchas veces el perfil resulta limítrofe entre dos clasificaciones, siendo difícil incluirlo en uno de los dos tipos. Este problema se presenta en el 10%de las muestras
Subject(s)
Humans , Clinical Laboratory Techniques , Electrophoresis, Agar Gel , Hyperlipoproteinemias/blood , Hyperlipoproteinemias/diagnosis , Lipoproteins/analysis , Hyperlipoproteinemia Type III/blood , Hyperlipoproteinemia Type III/therapy , Hyperlipoproteinemia Type II/blood , Hyperlipoproteinemia Type II/therapy , Hyperlipoproteinemia Type IV/blood , Hyperlipoproteinemia Type IV/therapy , Hyperlipoproteinemia Type V/blood , Hyperlipoproteinemia Type V/therapyABSTRACT
Se presentan los resultados de un ensayo clínico doble ciego vs. placebo realizado en 2 hospitales de Ciudad de la Habana (Cuba), en el cual se investigó la eficacia y tolerancia de dosis únicas diarias de 5 mg deateromixol (PPG) en pacientes hipercolesterolémicos tipo II. Los niveles basales de los lípidos y lipoproteínas se definieron al culminar un período inicial de dieta hipocolesterolémica. El tratamiento redujo significativamente las cifras de colesterol (10.85%), LDL-C (16.08%), los índices LDL-C/HDL-C (18.95%) y colesterol/HDL-C (14.80%) e incremento modesto estadísticamente significativa las HDL-C (8.84%), mientras que los triglicéridos y las VLDL-C descendieron no significativamente. En el grupo placebo no se produjeron variaciones significativas de los parámetros referidos. Tampoco se registraron afectaciones de la frecuencia cardíaca, presión arterial, ni de los parámetros bioquímicos y hematológicos investigados atribuibles al tratamiento. El PPG fue muy bien tolerado. De 164 pacientes incluidos en el ensayo, 151 (92.07%) culminaron el tratamiento, no produciéndose bajas por reacciones adversas. Las experiencias adversas fueron leves y transitorias y su comparación entre grupos no reveló diferencias significativas. Los resultados demuestran la eficacia del PPG (5 mg), así como su excelente tolerancia, hechos que justifican su utilidad en el tratamiento de la hiperlipoproteinemia tipo II