eMedicine Specialties > Ophthalmology > Metabolic Disorders
Hyperlipoproteinemia
Updated: Aug 14, 2007
Introduction
Background
Hyperlipoproteinemia is a metabolic disorder characterized by abnormally elevated concentrations of specific lipoprotein particles in the plasma.
Pathophysiology
Hyperlipidemia (ie, elevated plasma cholesterol or triglyceride levels or both) is present in all hyperlipoproteinemias. The primary form includes chylomicronemia, hypercholesterolemia, dysbetalipoproteinemia, hypertriglyceridemia, mixed hyperlipoproteinemia, and combined hyperlipoproteinemia. Other diseases, such as diabetes mellitus, pancreatitis, renal disease, and hypothyroidism, cause the secondary form.
Frequency
United States
This condition has a high frequency in developed countries.
Mortality/Morbidity
- If uncontrolled, higher mortality occurs from cardiovascular and cerebrovascular diseases.
- Abnormalities of the vascular system can develop, including ischemic cardiac disease. Obtaining appropriate medical evaluation is important, especially in patients younger than 40 years who have a prominent corneal arcus, xanthelasma, or lipemia retinalis.
Race
African Americans are affected more frequently than whites.
Sex
No sexual preponderance exists.
Age
Hyperlipoproteinemia may be present in children and young adults but is seen more frequently in later life.
Clinical
History
Clinical manifestations of the hyperlipoproteinemias are caused by the deposition of lipids in the vascular system and the eye.
Physical
- Corneal arcus, lipemia retinalis, and xanthelasma are the most common ocular abnormalities.
- Lipemia retinalis is primarily caused by an elevation of the serum triglyceride levels, which imparts a milky color to the blood.
- The changes are usually not seen until the triglyceride level reaches at least 2000 mg/dL in the early stages; they are best observed in the peripheral fundus. The vessels initially appear salmon-pink, but, when the triglyceride level rises further, they become whitish.
- These changes, which begin in the periphery, progress toward the posterior pole as the triglyceride level rises. In severe cases, the vessels are creamy white, and differentiating the arteries from the veins is difficult. The findings can fluctuate widely from day to day, depending on the triglyceride level.
- The fundus abnormalities, which improve as the triglyceride levels return to normal, provide a method of following the patient's course and response to therapy.
- Xanthelasma is a deposition of lipid in the eyelid, usually the upper medial lid. The lesions may be excised, but recurrences are common. With primary excisions, recurrences of up to 40% have been reported, and secondary excision recurrences are even higher. Of the initial failures, 20% are within the first year.
Causes
Risks appear to include diet, stress, physical inactivity, and smoking.
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References
Bron AJ. Corneal changes in the dislipoproteinaemias. Cornea. 1989;8(2):135-40. [Medline].
Brownstein S, Jackson WB, Onerheim RM. Schnyder's crystalline corneal dystrophy in association with hyperlipoproteinemia: histopathological and ultrastructural findings. Can J Ophthalmol. Aug 1991;26(5):273-9. [Medline].
Crispin SM. Lipid deposition at the limbus. Eye. 1989;3 (Pt 2):240-50. [Medline].
Feldman EB. Nutrition and diet in relation to hyperlipidemia and atherosclerosis. In: Shields M, Olson JA, Shike M. Modern Nutrition in Health and Disease. 8th ed. 1992.
Gronemeyer A, Arsene S, Le Lez ML, Rateau J. [Central retinal artery occlusion or branch retinal artery occlusion in the young associated with high lipoprotein (a) levels]. J Fr Ophtalmol. Sep 2002;25(7):727-30. [Medline].
Jünemann A, Küchle M, Naumann GO. Epithelial iron line in juvenile corneal arcus lipoides. Cornea. Sep 1995;14(5):540-2. [Medline].
Wu CW, Lin PY, Liu YF, Liu TC, Lin MW, Chen WM, et al. Central corneal mosaic opacities in Schnyder's crystalline dystrophy. Ophthalmology. Apr 2005;112(4):650-3. [Medline].
Further Reading
Keywords
hyperlipidemia, chylomicronemia, hypercholesterolemia, dysbetalipoproteinemia, hypertriglyceridemia, mixed hyperlipoproteinemia, combined hyperlipoproteinemia, high cholesterol
Overview: Hyperlipoproteinemia