Dysbetalipoproteinemia: Difference between revisions
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=Treatment= | =Treatment= | ||
==Medical Therapy== | ==Medical Therapy== | ||
Dysbetalipoprotenemia can be treated with | Dysbetalipoprotenemia can be treated<ref name="pmid17100406">{{cite journal| author=Hachem SB, Mooradian AD| title=Familial dyslipidaemias: an overview of genetics, pathophysiology and management. | journal=Drugs | year= 2006 | volume= 66 | issue= 15 | pages= 1949-69 | pmid=17100406 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=17100406 }} </ref> with | ||
*Bile acid binding agents are an option if TG levels are <200mg/dL | *Bile acid binding agents are an option if TG levels are <200mg/dL | ||
*Statins can be used if TG levels are <500mg/dL | *Statins can be used if TG levels are <500mg/dL | ||
*Fibrates and Nicotinic acid can otherwise be used. | *Fibrates and Nicotinic acid can otherwise be used. | ||
=Prevention= | =Prevention= | ||
Revision as of 18:06, 9 November 2016
Overview
Classification
Historical perspective
Pathophysiology
Causes
Differential Diagnoses
Epidemiology and Demographics
Screening
Natural History, Complication, Prognosis
Complications
- Heart attack
- Stroke
- Peripheral vascular disease
- Intermittent claudication
- Gangrene of the lower extremities
Prognosis
- Patients with dysbetalipoproteinemia have an increased risk for coronary artery disease and peripheral vascular disease.
- With treatment, most people show a significant reduction in lipid levels.
Diagnosis
Diagnosis of dysbetalipoprotenemia is confirmed[1] by the
- Presence of a palmar crease xanthoma, which is a rare diagnostic finding of dysbetalipoproteinemia.
- Lipid profile
- Genotyping apoE
- Ultracentrifugation or nuclear magnetic resonance lipid profiling
History and Symptoms
Physical Exam
Laboratory Findings
Molecular Genetic Testing
Treatment
Medical Therapy
Dysbetalipoprotenemia can be treated[2] with
- Bile acid binding agents are an option if TG levels are <200mg/dL
- Statins can be used if TG levels are <500mg/dL
- Fibrates and Nicotinic acid can otherwise be used.
Prevention
- Screening the family members of those with familial dysbetalipoproteinemia may lead to early detection and treatment.
- Early treatment and avoiding other risk factors for vascular disease (such as smoking) are crucial to preventing early heart attacks, strokes, and blocked blood vessels.
References
- ↑ Rothschild M, Duhon G, Riaz R, Jetty V, Goldenberg N, Glueck CJ; et al. (2016). "Pathognomonic Palmar Crease Xanthomas of Apolipoprotein E2 Homozygosity-Familial Dysbetalipoproteinemia". JAMA Dermatol. doi:10.1001/jamadermatol.2016.2223. PMID 27603268.
- ↑ Hachem SB, Mooradian AD (2006). "Familial dyslipidaemias: an overview of genetics, pathophysiology and management". Drugs. 66 (15): 1949–69. PMID 17100406.