Combined hyperlipidemia (CH) is a common, familial lipid disorder that causes a deranged lipid profile in affected individuals, and there is often a family history of cardiovascular disease or high cholesterol. CH has variable phenotypes, which are thought to be a result of genetic heterogeneity. The prevalence of CH is about 6% in the general population and over double that value among patients with familial coronary heart disease . The suggested disease process is that there is a surplus production of low density lipoprotein (LDL) and very low density lipoprotein (VLDL) by the liver, which contain apolipoprotein B100 (apoB100) . A grading system is in place, by which CH can be categorized into several subtypes depending on the prominent feature of a particular phenotype .
It is a very common condition in those with a preexisting cardiovascular disease, such as patients with a history of myocardial infarction. Although patients with CH may be diagnosed in the second or third decade of life, dyslipidemia may be present from birth but may remain asymptomatic in early life. Symptoms usually present later in life, and the prognosis is linked to the age of diagnosis and treatment initiation.
Patients present with signs of vascular compromise, such as angina, chronic ulcers, and intermittent claudication. Complications of CH mostly involve the cardiovascular system and comprise of conditions such as stroke. Furthermore, as it is a metabolic disorder, it is often associated with other metabolic diseases, such as nonalcoholic steatohepatitis (NASH), and glucose intolerance  . Individuals with CH may also have metabolic syndrome as comorbidity. They also have a higher prevalence of obesity, diabetes, and coronary artery disease, compared to the general population.
Entire Body System
Coon H, Myers RH, Borecki IB, Arnett DK, Hunt SC, Province MA; et al. (2000). "Replication of linkage of familial combined hyperlipidemia to chromosome 1q with additional heterogeneous effect of apolipoprotein A-I/C-III/A-IV locus. [wikidoc.org]
Hopkins PN, Heiss G, Ellison RC, Province MA, Pankow JS, Eckfeldt JH, Hunt SC: Coronary artery disease risk in familial combined hyperlipidemia and familial hypertriglyceridemia: a case-control comparison from the National Heart, Lung, and Blood Institute [lipidworld.biomedcentral.com]
Eckfeldt, J.H. and Hunt, S.C. ( 2003 ) Coronary artery disease risk in familial combined hyperlipidemia and familial hypertriglyceridemia: a case–control comparison from the National Heart, Lung, and Blood Institute Family Heart Study. [academic.oup.com]
Crossref Medline Google Scholar 3 Hopkins PN, Heiss G, Ellison RC, Province MA, Pankow JS, Eckfeldt JH, Hunt SC. [atvb.ahajournals.org]
[…] thickness and an increased risk of cardiovascular disease. Complications Complications that can develop in patients with familial combined hyperlipidemia include: Atherosclerosis Coronary artery disease Peripheral artery disease Gangrene [wikidoc.org]
The diagnosis of combined hyperlipidemia is made by evaluation of the lipid profile, that is, serum triglyceride and cholesterol levels. Typically, there are elevated levels of triglycerides, LDL, VLDL, and apoB100. There may also be a decrease in HDL (high density lipoprotein) cholesterol . Genetic testing may be done.
The parameters that best describe CH are not well defined, as different criteria yield different diagnoses  . The proposed diagnostic criteria are: hyperlipidemia observed in several consecutive tests in the patient, as well as in a relative .
Diagnosis is made even more challenging by the relatively normal lipid levels exhibited by a number of patients; these are correlated to certain factors, such as body weight, and may remain low until the associated factors change . Waist to hip ratio can be a useful tool in diagnosing CH. Other conditions to test for include diabetes and coronary artery disease. The identification of CH in children is complicated, as there is no correlation between lipid levels measured before the age of 12, and the development of CH in adult life.
RESULTS: Besides expected significant decrease in total cholesterol, LDL-cholesterol, apolipoprotein B and triglyceride levels, simvastatin treatment also reduced significantly circulating CD by 41% (p CONCLUSION: Simvastatin treatment significantly reduced [ncbi.nlm.nih.gov]
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. [nlm.nih.gov]
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. [mclarenhealthplan.org]
(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]
[…] 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]
Biochemistry and Etiology TGs are composed of three fatty acid molecules bound to a glycerol. [acc.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]
The first chapter covers the history of dyslipidaemia research, followed by a chapter on epidemiology of lipid disorders. [books.google.de]
Epidemiology and Demographics Epidemiology Familial combined hyperlipidemia is a a very common genetic hyperlipidemia. The prevalence is estimated to be 0.5-2% in general population annually. [wikidoc.org]
Although epidemiologic studies do not differentiate between the intakes of various nuts, the fatty acid composition of different nuts varies considerably. [ajcn.nutrition.org]
Valencia, Spain Antonio López-Ruiz, María M Jarabo, Eva Solá, Celia Bañuls & Antonio Hernández-Mijares Service of Clinical Analysis, University Hospital La Fe, Valencia, Spain María L Martínez-Triguero CIBER CB/06/02/0045 research group, CIBER Actions in Epidemiology [lipidworld.biomedcentral.com]
Thirdly, controversy exists regarding the closeness of the relationship between retinoids and lipids: On one hand, hypertriglyceridemia has been reported to develop as a result of the therapeutic use of retinoids (26); on the other hand, epidemiological [academic.oup.com]
To conduct focused studies of lipoprotein physiology and pathophysiology in genetically characterized patients with the objectives of understanding disease mechanisms, developing better treatments, and identifying and preventing early vascular disease [clinicaltrials.gov]
Abnormalities in LPL function are associated with pathophysiological conditions, including familial combined hyperlipidemia (FCH). [ncbi.nlm.nih.gov]
Lesson on familial combined hyperlipidemia: genetics, pathophysiology, signs and symptoms, diagnosis and treatment. [youtube.com]
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. [cancertherapyadvisor.com]
In the absence of a primary prevention trial for FCHL, it seems likely that the best therapeutic approach will remain uncertain. [iths.pure.elsevier.com]
[Article in English, Russian] Author information 1 Department of Metabolic Disorders, State Research Center for Preventive Medicine, Russian Health Service, Moscow. [email protected] Abstract We studied the relationship of serum apolipoprotein [ncbi.nlm.nih.gov]
Seite 299 - The sixth report of the Joint National Committee on Prevention, Detection. Evaluation, and Treatment of High Blood Pressure. [books.google.de]
Prevention & Expectations What can be done to prevent the condition? An inherited condition cannot be prevented once a person is born. Genetic counseling may be helpful to couples with a family history of the disease. [medicineonline.com]
- Wiesbauer F, Blessberger H, Azar D, et al. Familial-combined hyperlipidaemia in very young myocardial infarction survivors (< or =40 years of age). Eur Heart J. 2009;30(9):1073-1079.
- Venkatesan S, Cullen P, Pacy P, Halliday D, Scott J. Stable isotopes show a direct relation between VLDL apoB overproduction and serum triglyceride levels and indicate a metabolically and biochemically coherent basis for familial combined hyperlipidemia. Arterioscler Thromb. 1993;13(7):1110-1118.
- Pihlajamäki J1, Karjalainen L, Karhapää P, Vauhkonen I, Laakso M. Impaired free fatty acid suppression during hyperinsulinemia is a characteristic finding in familial combined hyperlipidemia, but insulin resistance is observed only in hypertriglyceridemic patients. Arterioscler Thromb Vasc Biol. 2000;20(1):164-170.
- Sniderman AD, Castro Cabezas M, Ribalta J, et al. A proposal to redefine familial combined hyperlipidaemia -- third workshop on FCHL held in Barcelona from 3 to 5 May 2001, during the scientific sessions of the European Society for Clinical Investigation. Eur J Clin Invest. 2002;32(2):71-73.
- Sveger T, Nordborg K. Apolipoprotein B as a marker of familial hyperlipoproteinemia. J Atheroscler Thromb. 2004;11(5):286-292.
- Hokanson JE, Austin MA, Zambon A, Brunzell JD. Plasma triglyceride and LDL heterogeneity in familial combined hyperlipidemia. Arterioscler Thromb. 1993;13(3):427-434.
- Aguilar Salinas CA, Zamora M, Gómez-Díaz RA, Mehta R, Gómez Pérez FJ, Rull JA. Review Familial combined hyperlipidemia: controversial aspects of its diagnosis and pathogenesis. Semin Vasc Med. 2004;4(2):203-209.
- del Rincon Jarero JP, Aguilar-Salinas CA, Guillén-Pineda LE, Gómez-Pérez FJ, Rull JA. Lack of agreement between the plasma lipid-based criteria and apoprotein B for the diagnosis of familial combined hyperlipidemia in members of familial combined hyperlipidemia kindreds. Metabolism. 2002;51(2):218-224.
- Expert Panel on Detection, Evaluation, and Treatment of High Blood Cholesterol in Adults. Executive Summary of The Third Report of The National Cholesterol Education Program (NCEP) Expert Panel on Detection, Evaluation, And Treatment of High Blood Cholesterol In Adults (Adult Treatment Panel III). JAMA. 2001;285(19):2486-2497.
- Koprovicová J, Kollár J, Petrásová D. Nutrition, body weight and deterioration of familial combined hyperlipidemia. Coll Antropol. 2006;30(4):777-782.