Hyperlipoproteinemia Clinical Presentation
- Author: Hampton Roy Sr, MD; Chief Editor: Hampton Roy Sr, MD more...
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.[1]
- 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.
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].
Shimabukuro M, Higa M, Tanaka H, et al. Distinct effects of pitavastatin and atorvastatin on lipoprotein subclasses in patients with Type 2 diabetes mellitus. Diabet Med. Jul 2011;28(7):856-64. [Medline].
Hadfield SG, Horara S, Starr BJ, Yazdgerdi S, Marks D, Bhatnagar D, et al. Family tracing to identify patients with familial hypercholesterolaemia: the second audit of the Department of Health Familial Hypercholesterolaemia Cascade Testing Project. Ann Clin Biochem. Jan 2009;46:24-32. [Medline].
Versmissen J, Oosterveer DM, Yazdanpanah M, Defesche JC, Basart DC, Liem AH, et al. Efficacy of statins in familial hypercholesterolaemia: a long term cohort study. BMJ. Nov 11 2008;337:a2423. [Medline].
van der Graaf A, Cuffie-Jackson C, Vissers MN, Trip MD, Gagné C, Shi G, et al. Efficacy and safety of coadministration of ezetimibe and simvastatin in adolescents with heterozygous familial hypercholesterolemia. J Am Coll Cardiol. Oct 21 2008;52(17):1421-9. [Medline].
Hudgins LC, Kleinman B, Scheuer A, White S, Gordon BR. Long-term safety and efficacy of low-density lipoprotein apheresis in childhood for homozygous familial hypercholesterolemia. Am J Cardiol. Nov 1 2008;102(9):1199-204. [Medline].
Basaran A. Pregnancy-induced hyperlipoproteinemia: review of the literature. Reprod Sci. May 2009;16(5):431-7. [Medline].
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].

