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The Nutrition-Focused History and Physical Examination (NFPE) in Malnutrition
Published in Michael M. Rothkopf, Jennifer C. Johnson, Optimizing Metabolic Status for the Hospitalized Patient, 2023
Michael M. Rothkopf, Jennifer C. Johnson
Next, we examine the eyes closely. Note the presence of xanthelasma that may indicate abnormal lipid metabolism. As noted in the discussion on fat stores, receding orbital fat pads in PCM leave the eyes sunken and surrounded by dark circles. Look at the extraocular eye movements. Ophthalmoplegia (especially abducens palsy) and nystagmus (particularly vertical nystagmus) are signs of Wernicke’s syndrome (see neuro, above). Dry conjunctiva and Bitot’s spots (conjunctival thickening or clumped cells) are a sign of vitamin A deficiency. The fundi may show lipemia retinalis in chylomicronemia and papilledema with pseudotumor cerebri from vitamin A or D toxicity.
Dyslipidemia
Published in Jahangir Moini, Matthew Adams, Anthony LoGalbo, Complications of Diabetes Mellitus, 2022
Jahangir Moini, Matthew Adams, Anthony LoGalbo
If the homozygous form of familial hypercholesterolemia is present, the patient may develop arcus corneae, tendinous xanthomas and xanthelasma, along with tuberous or planar xanthomas. Tuberous xanthomas are firm, painless nodules usually located above extensor joint surfaces. Planar xanthomas are yellow in color and either flat or slightly raised. Severely elevated triglycerides may cause eruptive xanthomas, appearing on the back, trunk, elbows, hands, buttocks, knees, and feet. The rare condition called dysbetalipoproteinemia causes palmar and tuberous xanthomas. Severe hypertriglyceridemia exists if triglycerides are above 2,000 mg/dL (22.6 mmol/L). This condition may cause the retinal veins and arteries to have a “creamy” white appearance, known as lipemia retinalis. Very high lipid levels cause a milky appearance of the blood plasma.
Ketogenic Diets
Published in Stanley R. Resor, Henn Kutt, The Medical Treatment of Epilepsy, 2020
Douglas R. Nordli, Dorcas Koenigsberger, Joanne Schroeder, Darryl C. de Vivo
Patients on the ketogenic diet exhibit a significantly reduced quantity of bone mass, which improves in response to vitamin D supplementation (5000 IU/day) (30). Renal calculi may develop but are rarely seen. Lipemia retinalis developed in two of Livingston’s patients (24). Bilateral optic neuropathy has been reported in two children who were treated with a 4:1 “classic” ketogenic diet. These patients were not originally given vitamin B supplements. After administration of vitamin B supplements, vision was restored in both. Thinning of hair and, rarely, alopecia may occur. Cardiovascular complications have not been seen in those adults examined. (24)
Pharmacological treatment options for severe hypertriglyceridemia and familial chylomicronemia syndrome
Published in Expert Review of Clinical Pharmacology, 2018
Rabia Chaudhry, Adie Viljoen, Anthony S. Wierzbicki
Severe hypertriglyceridemia associated with partial or complete lipoprotein lipase (LPL) deficiency occurs in 1 in 20,000 to 1 in 1,000,000 depending on the exact nature of the defect [1]. The presence of pancreatitis, lipemia retinalis (visible intra-arterial hypertriglyceridemia), or eruptive xanthomata are often considered pathognomic for a chylomicronemia syndrome [2]. However, many patients with chylomicronemia lack eruptive xanthomata and lipaemia retinalis are only seen with very blood triglyceride (TG) concentrations. The link with pancreatitis in the etiology is not entirely straightforward as some patients with very severe hypertriglyceridemia (TG > 50 mmol/L) may be asymptomatic, while others with far lower TG concentrations (10–20 mmol/L) have acute pancreatitis [2,3] The key to the difference is the location of the TGs on different lipoprotein particles. Plasma TGs serve as an easily measured marker of underlying lipoprotein particle distributions which can only be defined by the slow specialist assay of ultracentrifugation or by magnetic resonance particle sizing. The commonly used, but outdated, Fredrickson classification of lipid disorders based on ultracentrifugation classifies patients with predominant chylomicron (CM) particles in plasma as having type I hyperlipidemia while those with a combined chylomicron and very-low-density lipoprotein (CM-VLDL) pattern have type V and those with mostly VLDL particles have type IV.