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• W2012029197 abstract "We report the case of a 12-week-old boy presenting with increased cholesterol and triglyceride levels. Examination revealed lipemia retinalis. Genetic evaluation demonstrated lipoprotein lipase deficiency. The patient was treated with dietary restrictions, which resulted in rapid clinical improvement. We report the case of a 12-week-old boy presenting with increased cholesterol and triglyceride levels. Examination revealed lipemia retinalis. Genetic evaluation demonstrated lipoprotein lipase deficiency. The patient was treated with dietary restrictions, which resulted in rapid clinical improvement. A 12-week-old boy was admitted to Schneider Children's Medical Center with hepatomegaly and hyperlipidemia. Two weeks before admission, his blood cholesterol level was measured by his primary care physician at 679 mg/dL (normal, 60–199 mg/dL) and his triglyceride level at 7850 mg/dL (normal, 50–200 mg/dL). The patient was first born to healthy, second-degree cousins of Arab Muslim origin at 40 weeks' gestation with unremarkable prenatal history. Developmental milestones were appropriate for age, with no previous significant illness. Nutrition was based solely on breast feeding. No gastrointestinal symptoms were noted. Family history was unremarkable. On admission, the patient weighed 6060 g and vital signs were within normal range. Physical examination revealed hepatomegaly +2, normal spleen size, a small umbilical hernia, and xanthomas on the face, abdomen, and lower limbs. Abdominal ultrasonographic examination showed the liver to be enlarged but otherwise normal. Laboratory evaluation revealed increased levels of cholesterol (1700 mg/dL) and triglycerides (24,500 mg/dL). Ophthalmologic evaluation, including fundus examination, demonstrated normal anterior segments in both eyes, normal optic discs, whitish retinal vessels, and a salmon-pink retina (Figure 1). The clinical picture was consistent with lipemia retinalis. Chylomicronemia resulting from a deficiency of lipoprotein lipase (LPL), an enzyme involved in hydrolysis and triglyceride removal from plasma, or apolipoprotein C-II (ApoC-II) was suspected. Chylomicronemia may be controlled initially through a low-fat diet, consisting of 10% to 15% of daily caloric intake from fat, with reductions in saturated and trans fats. Medium-chain fatty acids can provide a source of fat in the diet because they do not rely on chylomicron formation and are absorbed directly into the portal circulation. The mother was counseled to stop breast feeding, and a medium-chain triglycerides and grape sugar diet was started. During hospitalization, dietary changes in our patient led to a dramatic improvement both clinically and in the lipid profile. On repeated ophthalmologic evaluation, the retinal vessels and retina showed improvement as well. Eight days after the diet was initiated, the patient's triglyceride levels measured 437 mg/dL, and cholesterol levels 428 mg/dL. Physical examination showed a reduction in the skin xanthomas. At last follow-up, 2 weeks after admission, the retinal vessels appeared normal (Figure 2). DNA analysis revealed homozygosity for the missense mutation c.809G > A in the LPL gene, establishing the clinically suspected diagnosis of LPL deficiency with chylomicronemia. Hypertriglyceridemia occurs as a primary familial disorder or secondary to other diseases. The familial disorders include ApoC-II deficiency, endogenous circulating LPL inhibitor, and LPL deficiency.1Rahalkar A.R. Giffen F. Har B. et al.Novel LPL mutations associated with lipoprotein lipase deficiency: Two case reports and a literature review.Can J Physiol Pharmacol. 2009; 87: 151-160Crossref PubMed Scopus (61) Google Scholar Chylomicronemia occurs when triglyceride levels exceed 1000 mg/dL2Executive summary of the third report of the National Cholesterol Education Program (NCEP) Expert Panel on detection, evaluation, and treatment of high blood cholesterol in adults (Adult Treatment Panel III).JAMA. 2001; 285: 2486-2497Crossref PubMed Scopus (23863) Google Scholar and is defined as a chylomicronemia syndrome when signs and symptoms include eruptive xanthomas, lipemia retinalis, and recurrent abdominal pain.3Cypel M. Manzano R. Dos Reis F.A. et al.Lipemia retinalis in a 35-day-old infant with hyperlipoproteinemia: case report.Arq Bras Oftalmol. 2008; 71: 254-256Crossref PubMed Scopus (14) Google Scholar, 4Horton M. Thompson K. Lipemia retinalis preceding acute pancreatitis.Optometry. 2011; 82: 475-480Abstract Full Text Full Text PDF PubMed Scopus (8) Google Scholar Chylomicronemia syndrome is associated with recurrent or acute pancreatitis.3Cypel M. Manzano R. Dos Reis F.A. et al.Lipemia retinalis in a 35-day-old infant with hyperlipoproteinemia: case report.Arq Bras Oftalmol. 2008; 71: 254-256Crossref PubMed Scopus (14) Google Scholar, 4Horton M. Thompson K. Lipemia retinalis preceding acute pancreatitis.Optometry. 2011; 82: 475-480Abstract Full Text Full Text PDF PubMed Scopus (8) Google Scholar, 5Gan S.I. Edwards A.L. Symonds C.J. Beck P.L. Hypertriglyceridemia-induced pancreatitis: A case-based review.World J Gastroenterol. 2006; 12: 7197-7202PubMed Google Scholar Lipemia retinalis is an ocular finding associated with elevated plasma levels of triglycerides. It serves as a vital clinical sign of chylomicronemia because acute triglyceride elevations may be asymptomatic at first, delaying treatment of a potentially lethal metabolic disorder.4Horton M. Thompson K. Lipemia retinalis preceding acute pancreatitis.Optometry. 2011; 82: 475-480Abstract Full Text Full Text PDF PubMed Scopus (8) Google Scholar The ocular findings result from light scatter induced by the triglyceride-laden chylomicrons in the plasma.6Nagra P.K. Ho A.C. Dugan Jr., J.D. Lipemia retinalis associated with branch retinal vein occlusion.Am J Ophthalmol. 2003; 135: 539-542Abstract Full Text Full Text PDF PubMed Scopus (27) Google Scholar Hyperlipidemia without accompanying hypertriglyceridemia does not present this clinical picture.4Horton M. Thompson K. Lipemia retinalis preceding acute pancreatitis.Optometry. 2011; 82: 475-480Abstract Full Text Full Text PDF PubMed Scopus (8) Google Scholar The early signs occur in the peripheral retina, and as triglyceride levels increase, they spread to the posterior pole. At triglyceride levels of 2500–3499 mg/dL, the peripheral vessels appear creamy and thin; at levels of 3500–5000 mg/dL, the vessels in the posterior pole assume a creamy color; and at levels exceeding 5000 mg/dL, the fundus becomes salmon-colored, with creamy arteries and veins that can be distinguished by caliber only. The clinical appearance is graded accordingly as early, moderate, or marked.3Cypel M. Manzano R. Dos Reis F.A. et al.Lipemia retinalis in a 35-day-old infant with hyperlipoproteinemia: case report.Arq Bras Oftalmol. 2008; 71: 254-256Crossref PubMed Scopus (14) Google Scholar, 4Horton M. Thompson K. Lipemia retinalis preceding acute pancreatitis.Optometry. 2011; 82: 475-480Abstract Full Text Full Text PDF PubMed Scopus (8) Google Scholar Our patient had marked lipemia retinalis. Elevated plasma triglyceride levels may have other ocular manifestations, including lipemic aqueous, corneal arcus, xanthelasma, and palpebral xanthomas.7Gopal L. Sunder K.S. Rao S.K. et al.Hyperlipidemia in a poorly controlled diabetic presenting with lipemic aqueous and lipemia retinalis.Retina. 2004; 24: 312-315Crossref PubMed Scopus (9) Google Scholar Retinal vein sludging and red cell aggregation also have been described4Horton M. Thompson K. Lipemia retinalis preceding acute pancreatitis.Optometry. 2011; 82: 475-480Abstract Full Text Full Text PDF PubMed Scopus (8) Google Scholar; branch vein occlusion with a marked exudative response has been reported in one case.6Nagra P.K. Ho A.C. Dugan Jr., J.D. Lipemia retinalis associated with branch retinal vein occlusion.Am J Ophthalmol. 2003; 135: 539-542Abstract Full Text Full Text PDF PubMed Scopus (27) Google Scholar Lipemia retinalis does not affect visual acuity. However, Lu and colleagues8Lu C.K. Chen S.J. Niu D.M. et al.Electrophysiological changes in lipaemia retinalis.Am J Ophthalmol. 2005; 139: 1142-1145Abstract Full Text Full Text PDF PubMed Scopus (18) Google Scholar described changes on electroretinography, namely, decreased a- and b-waves in both cone and rod responses. Correction of the lipid levels reversed the abnormal findings within 1 week. The mechanism of electroretinography impairment in these patients requires further studies. Our patient was not evaluated for these findings. LPL deficiency is inherited in an autosomal-recessive manner.1Rahalkar A.R. Giffen F. Har B. et al.Novel LPL mutations associated with lipoprotein lipase deficiency: Two case reports and a literature review.Can J Physiol Pharmacol. 2009; 87: 151-160Crossref PubMed Scopus (61) Google Scholar Its clinically significant manifestation requires a homozygous or compound heterozygous mutation. In our case, the metabolic disorder was genetically confirmed to be caused by an LPL gene mutation. Nearly 100 mutations in the gene coding for LPL have been recognized to date. A deficiency of LPL or its cofactor ApoC-II, which is necessary for its activation, leads to impaired clearance and accumulation of triglyceride-rich lipoproteins in plasma and organs (liver, spleen, and pancreas), with elevated triglyceride levels and reduced high-density lipoprotein levels. Although treatment is necessary for the systemic effects of hypertriglyceridemia, usually no treatment is required for the lipemia retinalis itself. Once triglyceride levels return to normal, the clinical ocular findings of lipemia retinalis should quickly resolve.4Horton M. Thompson K. Lipemia retinalis preceding acute pancreatitis.Optometry. 2011; 82: 475-480Abstract Full Text Full Text PDF PubMed Scopus (8) Google Scholar However, given that lipemia retinalis is an important ocular sign of a life-threatening but easily treatable metabolic disorder, it is essential that clinicians be alert to the signs and symptoms." @default.
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