Familial combined hyperlipidemia

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Lipoprotein Disorders Microchapters

Patient Information

Overview

Causes

Classification

Hyperlipoproteinemia
Hypolipoproteinemia

Treatment

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

  1. Culliton BJ (1987). "Fredrickson's bitter end at Hughes". Science. 236 (4807): 1417–8. PMID 3296193.
  2. 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. 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.
  4. 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.
  5. 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%.


References

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