Dysbetalipoproteinemia: Difference between revisions

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=Natural History, Complication, Prognosis=
=Natural History, Complication, Prognosis=
==Complications==
==Complications==
 
Dysbetalipoprtenemia can cause the following complications <ref name="pmid12506591">{{cite journal| author=Blom DJ, Byrnes P, Jones S, Marais AD| title=Dysbetalipoproteinaemia--clinical and pathophysiological features. | journal=S Afr Med J | year= 2002 | volume= 92 | issue= 11 | pages= 892-7 | pmid=12506591 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=12506591  }} </ref>
* Heart attack
* Atherosclerotic complications like ischemic heart disease
*Pancreatitis
* Stroke
* Stroke
* Peripheral vascular disease
* Peripheral vascular disease

Revision as of 19:20, 9 November 2016

Overview

Classification

Historical perspective

Pathophysiology

Causes

Differential Diagnoses

Epidemiology and Demographics

Screening

Natural History, Complication, Prognosis

Complications

Dysbetalipoprtenemia can cause the following complications [1]

  • Atherosclerotic complications like ischemic heart disease
  • Pancreatitis
  • 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[2] 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[3] 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

  1. Blom DJ, Byrnes P, Jones S, Marais AD (2002). "Dysbetalipoproteinaemia--clinical and pathophysiological features". S Afr Med J. 92 (11): 892–7. PMID 12506591.
  2. 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.
  3. Hachem SB, Mooradian AD (2006). "Familial dyslipidaemias: an overview of genetics, pathophysiology and management". Drugs. 66 (15): 1949–69. PMID 17100406.

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