A 37-Year-Old Man With Chest Pain and Elbow/Eyelid Papules

Rajdeep Chana, DO; Saurabh Sharma, MD

Disclosures

June 25, 2021

Patients with hypertriglyceridemia can have recurrent episodes of pancreatitis, as occurred in this patient. Additionally, owing to accelerated atherosclerosis, patients are at high risk for cardiovascular disease.[3] Therefore, triglyceride screening should be included in the workup for patients with recurrent pancreatitis.

Triglyceride levels that are higher than 2000 mg/dL should raise suspicion for a genetic cause of hypertriglyceridemia, such as lipoprotein lipase deficiency. A lipoprotein fractionation panel in patients with lipoprotein lipase deficiency typically shows a pattern of elevated chylomicron and VLDL levels, which is expected based on the pathophysiology of the disease. The appearance of the plasma can be milky, owing to the high levels of chylomicrons. Excessive chylomicrons in the bloodstream are ingested by macrophages, which accumulate in the liver and spleen, resulting in hepatosplenomegaly.

Molecular gene testing can confirm the diagnosis of lipoprotein lipase deficiency. Other tests include direct assays of lipoprotein lipase enzyme activity and even biopsy of adipose tissue to assess lipoprotein lipase activity. Triglyceride levels above 10,000 mg/dL have been found in some cases of homozygous lipoprotein lipase deficiency.

Both diabetes and a nonfasting state can result in elevated triglyceride levels on a lipid profile; however, levels above 1000 mg/dL would not be expected.

Familial hypercholesterolemia causes elevated low-density lipoprotein levels, usually owing to mutations in the low-density lipoprotein receptor, and has an autosomal dominant mode of inheritance.[4] Homozygotes tend to have nearly absent low-density lipoprotein receptor levels, whereas heterozygotes have a reduced presence of this receptor. Elevated triglyceride levels, therefore, are not a feature of familial hypercholesterolemia. Moreover, this patient did not have significantly elevated low-density lipoprotein levels.

Physical examination of patients with familial hypercholesterolemia may reveal tendon xanthomas and xanthelasma palpebrarum, which are cholesterol deposits found over tendons and around the eyelids, respectively. Ocular examination may show cholesterol deposits around the periphery of the cornea, which are known as corneal arcus.

The treatment of lipoprotein lipase deficiency focuses on a very fat-restricted diet: no more than 20 g of dietary fat per day or 15% of total energy intake.[1] The goal of treatment is to maintain triglyceride levels below 2000 mg/dL, with the greatest benefit observed when they are below 1000 mg/dL. Alcohol, oral estrogens, beta-adrenergic blockers, diuretics, selective serotonin reuptake inhibitors, and isotretinoin should be avoided because they are known to increase endogenous triglyceride levels.[2]

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