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Familial Hyperlipidemia

Familial Hyperlipemia


Presentation

  • In the present study, we were not able to demonstrate an improved vascular response after acute lipid lowering in FH patients. This was true both in the microcirculation (PRH) and in the conduit vessels (FMD).[ncbi.nlm.nih.gov]
  • Individuals with Familial Combined Hyperlipidemia (FCH) are usually not diagnosed early, even though they might have the abnormality since childhood, because most often they do not present any signs or symptoms.[dovemed.com]
  • Abstract In the April 1959 issue of this journal, under the title of "An Inborn Error of Lipid Metabolsim, "clinical studies were reported on two brothers with hyperlipidemia. 1 Although these children presented several of the clinical and laboratory[pediatrics.aappublications.org]
  • In the present study, all individuals were white. This resulted in a total of 32 families, providing 299 subjects (excluding spouses).[atvb.ahajournals.org]
  • The purpose of this study is presentation of one case of LFS, associated with familial hyperlipidemias. A 52-year-old woman referred to clinic of oncology with a pain in the left breast.[advancejournals.org]
Coronary Atherosclerosis
  • FCH carries a significantly increased risk of coronary atherosclerosis; 10-15% of patients with premature coronary heart disease (CHD) have FCH, including acute myocardial infarction survivors younger than 60 years of age).[clinicaladvisor.com]
  • Definition / general Term used to denote excess of lipids, mainly cholesterol and triglycerides (TG), in the blood Strong relationship between high plasma lipids and coronary heart disease Lowering LDL and raising HDL decrease the progression of coronary[pathologyoutlines.com]
  • Two weeks later, he passed away from sudden cardiac death due to coronary atherosclerosis. He had FH – something that should have been diagnosed when he was a young child.”[acc.org]
  • Association of coronary atherosclerosis with hyperapobetalipoproteinemia [increased protein but normal cholesterol levels in human plasma low density (beta) lipoproteins]. Proc Natl Acad Sci U S A. 1980; 77 : 604–608.[atvb.ahajournals.org]
  • Coronary atherosclerosis has been detected in men with heterozygous familial hypercholesterolemia as young as 17 years old and in women with heterozygous familial hypercholesterolemia at 25 years old.[cochranelibrary.com]
Dentist
  • This system helps physicians, medical students, dentists, nurses, pharmacists, and allied health professionals identify education deficits and learn new concepts.[knowledge.statpearls.com]
Resistant Hypertension
  • Because of the frequent overlap with the features of metabolic syndrome (high triglycerides, low HDL, high small dense LDL, insulin resistance, hypertension and obesity), this serious disease is often not recognized and treated.[clinicaladvisor.com]
Atrial Septal Defect
  • Child was detected to have atrial septal defect {ASD} in her infancy but was not any medications for same. Her diet was predominantly vegetarian. On examination, weight was 10 kg, height was 8.8 cms. She had hepatosplenomegaly.[pediatriconcall.com]
Aspiration
  • The subfractions were carefully aspirated by means of a Pasteur pipette. The volumes were calculated by weighing after correction for the densities.[atvb.ahajournals.org]
Abdominal Pain
  • It can cause abdominal pain, pancreatitis, fat deposits in the skin and eyes and a large liver and spleen. Treatment involves eating a healthy diet. Type II hyperlipidemia is divided into type IIa and type IIb.[livestrong.com]
  • pain and abnormal liver function tests Statins are contraindicated in pregnancy, breastfeeding and active liver disease Bile acid sequestrants: they act by binding bile acids, preventing their reabsorption, which promotes hepatic conversion of cholesterol[pathologyoutlines.com]
  • It usually presents in childhood with very severe hypertriglyceridemia and episodic abdominal pain, recurrent acute pancreatitis, eruptive cutaneous xanthomata, and hepatosplenomegaly.[blueprintgenetics.com]
  • They underline the importance of monitoring any possible symptoms like abdominal pain related to liver dysfunction and advise to consider using a fractionated bilirubin for detection of liver dysfunction.[cochranelibrary.com]

Workup

  • FCH is usually diagnosed based on the presence of family history of cardiovascular diseases, physical examination findings, and blood workup.[dovemed.com]
  • References: [4] [1] [15] [16] Diagnostics Laboratory analysis Fasting lipid profile : total cholesterol, HDL, and triglycerides are measured Identify underlying cause Fasting blood glucose level or Hb1Ac TSH level Liver function tests Urine analysis Further workup[amboss.com]
  • Clinical Testing and Workup Evaluations Following Initial Diagnosis To establish the extent of disease and needs of an individual diagnosed with FH, the following evaluations are recommended in adults and children: • Pre-treatment lipid values • Lipoprotein[rarediseases.org]
Hypertriglyceridemia
  • D., 1983, Severe hypertriglyceridemia: Role of familial and acquired disorders, Metabolism 32:209–214. PubMed CrossRef Google Scholar Chait, A., Albers, J. J., and Brunzell, J.[link.springer.com]
  • Due to excess production and reduced elimination of VLDLs (heterozygous LPL deficiency) Increased TGs but normal cholesterol Increased risk of pancreatitis and xanthomas Endogenous Hypertriglyceridemia Very similar to type I Due to reduced LPL activity[quizlet.com]
  • A secondary objective is to identify specific genes/SNPs related to the cardiovascular risk factors characteristic of CFH (hypercholesterolemia, hypertriglyceridemia, hypertension and obesity), compare them with the CFH-related genes/SNPs, and assess[redheracles.net]
  • Conclusions: Although gemfibrozil with either colestipol or lovastatin favorably altered lipoprotein levels in patients with hypertriglyceridemia and familial combined hyperlipidemia, the combination of gemfibrozil and lovastatin appeared superior overall[annals.org]
Liver Biopsy
  • biopsies done on one of the children at a three year's interval were reported as containing low or normal amounts of hepatic glycogen.[pediatrics.aappublications.org]

Treatment

  • The goal of treatment is not to cure the disorder, but to reduce the risk of heart disease. Lifestyle Changes Dietary and lifestyle changes are a common first-line treatment.[healthline.com]
  • The treatment options of Familial Combined Hyperlipidemia include: The main treatment goal of FCH is to reduce the risk of early heart disease and stroke It is initially treated through dietary and lifestyle modifications, which include: Consultation[dovemed.com]
  • In this review, we provide an overview of these treatment options that are currently in clinical development and may offer alternative or adjunctive therapies for this high-risk population. Copyright 2013 Elsevier Inc. All rights reserved.[ncbi.nlm.nih.gov]
  • Outlook (Prognosis) How well you do depends on: How early the condition is diagnosed When you start treatment How well you follow your treatment plan Without treatment, heart attack or stroke may cause early death.[baptistjax.com]
  • How well you do depends on: How early the condition is diagnosed When you start treatment How well you follow your treatment plan Without treatment, heart attack or stroke may cause early death.[medlineplus.gov]

Prognosis

  • To achieve this, lifestyle changes, medications such as statins, and/or treatment of associated conditions may be used The prognosis is favorable if Familial Combined Hyperlipidemia is diagnosed early and treated promptly.[dovemed.com]
  • Outlook (Prognosis) How well you do depends on: How early the condition is diagnosed When you start treatment How well you follow your treatment plan Without treatment, heart attack or stroke may cause early death.[baptistjax.com]
  • FCH is much more evidently influenced by inheritance and lifestyle is much less relevant to clinical manifestation and prognosis than in MS. FCH has earlier clinical and laboratory manifestation than MS.[clinicaladvisor.com]
  • Treatment of FH People with FH have an excellent prognosis, provided the condition is identified early and treated appropriately. Familial hypercholesterolemia can’t be treated by diet and exercise alone.[heart.org]
  • The overall prognosis for these individuals is in the worst-case scenario if uncontrolled and untreated individuals may die before the age of 20, but if one seeks a prudent diet with correct medical intervention, the individual may see an increased incidence[en.wikipedia.org]

Etiology

  • Etiology Classification Pathophysiology Clinical features Typically no specific signs or symptoms Skin manifestations Xanthoma : nodular lipid deposits in the skin and tendons Pathophysiology: Extremely high levels of triglycerides and/or LDL result in[amboss.com]
  • (Etiology) Familial Combined Hyperlipidemia is passed down through the families. It is the most common genetic disorder causing abnormal lipid levels in blood.[dovemed.com]
  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • […] individuals who had experienced an acute myocardial infarction (AMI). 1,2 The prevalence of this condition in the general population ranges from 0.5% to 3%, and it is the cause of 10% to 20% of the AMI occurring in individuals under 60 years of age. 3 The etiology[revespcardiol.org]
  • To be able to delineate the metabolic and genetic factors contributing to the etiology of FCH, it is essential to have consistent diagnostic tools to establish a diagnosis of FCH.[atvb.ahajournals.org]

Epidemiology

  • The article focuses on five topics: (1) a description of lipoprotein classes, normal lipoprotein metabolism, and the biological mechanism of atherosclerosis; (2) a review of selected epidemiologic and clinical trial studies examining the associations[ncbi.nlm.nih.gov]
  • The first chapter covers the history of dyslipidaemia research, followed by a chapter on epidemiology of lipid disorders.[books.google.com]
  • References: [1] [2] Epidemiology References: [2] Epidemiological data refers to the US, unless otherwise specified.[amboss.com]
  • Hopkins has taught at the University of Utah School of Medicine, is an active lecturer, and serves as a statistics and epidemiology consultant for the Center for Clinical and Translational Studies statistics group at the University of Utah.[healthcare.utah.edu]
  • Epidemiology Heterozygous FH (HeFH) is one of the most common genetic disorders, occurring in approximately one in 200 to 500 people. Homozygous FH (HoFH) has a prevalence of one in 160,000 to 500,000 people.[knowledge.statpearls.com]
Sex distribution
Age distribution

Pathophysiology

  • Abstract Familial combined hyperlipidemia (FCHL) and familial hypertriglyceridemia (FHTG) are two common genetic forms of hyperlipidemia that differ in their clinical consequences and pathophysiology but are as yet poorly understood.[link.springer.com]
  • The pathophysiology underlying the disorder is an overproduction of very low density lipoprotein (VLDL) ApoB and LDL ApoB particles.[clinicaladvisor.com]
  • Etiology Classification Pathophysiology Clinical features Typically no specific signs or symptoms Skin manifestations Xanthoma : nodular lipid deposits in the skin and tendons Pathophysiology: Extremely high levels of triglycerides and/or LDL result in[amboss.com]
  • Hypolipoproteinemia Overview Abetalipoproteinemia AR pathophysiology due to mutations in the microsomal triglyceride transfer protein (MTTP) deficiency in apolipoprotein B-48 and B-100 remember: A (without) beta (B) chylomicrons (B-48), VLDL/LDL (B-100[medbullets.com]
  • […] triglycerides (TG), in the blood Strong relationship between high plasma lipids and coronary heart disease Lowering LDL and raising HDL decrease the progression of coronary atherosclerosis, the process responsible for majority of cardiovascular diseases (CVD) Pathophysiology[pathologyoutlines.com]

Prevention

  • The study indicates that screening the family members of hyperlipidemic young patients of non-embolic ischemic stroke may delineate a group of high risk individuals for possible primary prevention before they develop the disease.[ncbi.nlm.nih.gov]
  • Clinical intervention often is more about prevention than treatment.[mdedge.com]
  • Hopkins was International Chair for the MEDPED program (Make Early Diagnoses to Prevent Early Death), started by the late Dr. Roger Williams to find, educate, and help prevent premature CAD in persons with FH.[healthcare.utah.edu]
  • Prevention A diet that is low in cholesterol and saturated fat may help to control LDL levels in people at high risk. If someone in your family has this condition, you may want to consider genetic screening for yourself or your children.[baptistjax.com]

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