Dysbetalipoproteinemia
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
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.