Dysbetalipoproteinemia: Difference between revisions
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=Physical Exam= | =Physical Exam= | ||
Physical examination in dybetalipoproteinemia may | Physical examination in dybetalipoproteinemia may range from being normal to the presence of these findings<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> | ||
*Xanthoma Striatum Palmare-consisting of yellow streaks in the palmar creases. | *Xanthoma Striatum Palmare-consisting of yellow streaks in the palmar creases. | ||
*Tuberoeruptive xanthomas on the elbow or tibial tuberosities | *Tuberoeruptive xanthomas on the elbow or tibial tuberosities | ||
*Tendon xanthomas may also be seen rarely | *Cutaneous xanthomas | ||
*Tendon xanthomas may also be seen rarely | |||
=Laboratory Findings= | =Laboratory Findings= | ||
Revision as of 19:56, 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 range from being normal to the presence of these findings[1]
- Xanthoma Striatum Palmare-consisting of yellow streaks in the palmar creases.
- Tuberoeruptive xanthomas on the elbow or tibial tuberosities
- Cutaneous xanthomas
- 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
- ↑ 1.0 1.1 Blom DJ, Byrnes P, Jones S, Marais AD (2002). "Dysbetalipoproteinaemia--clinical and pathophysiological features". S Afr Med J. 92 (11): 892–7. PMID 12506591.
- ↑ 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.