Familial combined hyperlipidemia
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Lipoprotein Disorders Microchapters |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
Synonyms and keywords: Type IIB hyperlipoproteinemia
Overview
Based on old and recent definitions, Familial combined hyperlipidemia is a common metabolic disorder charaterized by following:-
- An increased cholesterol and/or triglycerides in at least to members of the same family.
- An intra-individual and intrafamilial variability of the lipid phenotype
- An increased risk of premature coronary heart disease.
The high VLDL levels are due to overproduction of substrates, including triglycerides, acetyl-CoA, and an increase in B-100 synthesis.
Historical perspective
- In 1967, Fredrickson using paper electrophosresis , classified lipoprotein disorder.[1]
Classification
- There is no established classification for familial combined hyperlipidemia.
Pathophysiology
Pathogenesis
Causes
The cause of familial combined hyperlipidemia remains genetic.
Differential diagnosis
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. Familial combined hyperlipidemia is commonly seen in patients with coronary disease( 10%) , patients less than 60 years of age who have survived an acute infarct (11.3%) and upto 40% in all myocardial infarction survivors. [2][3] More than 3.5 million people in EU and 2.7 million in the US suffer from familial combined hyperlipidemia.[2]
Demographics
Geographical distribution can not be estimated so far as most of the studies conducted on familial combined hyperlipidemia consist of Caucasian population living the United States and Europe.[4]
Age
Familial combined hyperlipidemia is commonly seen in all ages in myocardial infarction survivors.[3] Dr. Iwata in 2003 explained that many patients with familial combined hyperlipidemia present during their childhood.[5]
Gender
Familial combined hyperlipidemia affects men and women equally.
Screening
Natural History, Complications, and Prognosis
Natural History
Complications
Prognosis
Diagnosis
History and symptoms
Symptoms of
Physical examination
- Signs of Type
Laboratory findings
Molecular Genetic Testing
Treatment
Pregnancy Management
Investigative Therapies
Gene Therapy
Prevention
Secondary prevention
Prevention of complications
References
- ↑ Culliton BJ (1987). "Fredrickson's bitter end at Hughes". Science. 236 (4807): 1417–8. PMID 3296193.
- ↑ 2.0 2.1 Gaddi A, Galetti C, Pauciullo P, Arca M (1999). "Familial combined hyperlipoproteinemia: experts panel position on diagnostic criteria for clinical practice. Committee of experts of the Atherosclerosis and Dysmetabolic Disorders Study Group". Nutr Metab Cardiovasc Dis. 9 (6): 304–11. PMID 10765523.
- ↑ 3.0 3.1 de Bruin TW, Mailly F, van Barlingen HH, Fisher R, Castro Cabezas M, Talmud P; et al. (1996). "Lipoprotein lipase gene mutations D9N and N291S in four pedigrees with familial combined hyperlipidaemia". Eur J Clin Invest. 26 (8): 631–9. PMID 8872057.
- ↑ Gaddi A, Cicero AF, Odoo FO, Poli AA, Paoletti R, Atherosclerosis and Metabolic Diseases Study Group (2007). "Practical guidelines for familial combined hyperlipidemia diagnosis: an up-date". Vasc Health Risk Manag. 3 (6): 877–86. PMC 2350131. PMID 18200807.
- ↑ Iwata F, Okada T, Kuromori Y, Hara M, Harada K (2003). "Screening for familial combined hyperlipidemia in children using lipid phenotypes". J Atheroscler Thromb. 10 (5): 299–303. PMID 14718747.
Template:WikiDoc Sources rance of LDL. Prevalence in the population is 10%.