Dysbetalipoproteinemia: Difference between revisions
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Revision as of 19:51, 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. apo E-2 presence causes defective binding of apo E containing lipid particles.
- Ultracentrifugation or nuclear magnetic resonance lipid profiling
History and Symptoms
Symptoms of dysbetalipoprotenemia include
Physical Exam
Physical examination in dybetalipoproteinemia may be normal
- Xanthoma Striatum Palmare-consisting of yellow streaks in the palmar creases.
- Tuberoeruptive xanthomas on the elbow or tibial tuberosities
- Tendon xanthomas may also be seen rarely.
Laboratory Findings
Molecular Genetic Testing
The laboratory findings consistent with dysbetalipoprotenemia include[3]the following
| Appearance | VLDL cholesterol | Cholesterol | Triglycerides | Isoelectric focusing | |||
|---|---|---|---|---|---|---|---|
| Floating
beta lipoproteins |
VLDL cholesterol
>0.35 |
Elevated | Elevated | ApoE-2 homozygote |
Treatment
Medical Therapy
Dysbetalipoprotenemia can be treated[4] 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
- ↑ Blom DJ, Byrnes P, Jones S, Marais AD (2002). "Dysbetalipoproteinaemia--clinical and pathophysiological features". S Afr Med J. 92 (11): 892–7. PMID 12506591.
- ↑ 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.
- ↑ Braunwald, Eugene. Heart Disease- Fourth Edition. Harvard Medical School: W. B. SAUNDERS COMPANY. p. 1137. ISBN 0-7216-3097-9.
- ↑ Hachem SB, Mooradian AD (2006). "Familial dyslipidaemias: an overview of genetics, pathophysiology and management". Drugs. 66 (15): 1949–69. PMID 17100406.