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

Rajdeep Chana, DO; Saurabh Sharma, MD

Disclosures

June 25, 2021

Discussion

Lipoprotein lipase deficiency is a rare genetic disorder with an autosomal recessive pattern of inheritance. It occurs in 1 out of 1 million individuals in the general population.[1] The lipoprotein lipase enzyme is found in the vascular endothelium and is involved in the conversion of triglycerides, which are contained in VLDLs and chylomicrons, into free fatty acids. In this genetic disorder, lipoprotein lipase enzyme activity may be reduced or completely absent, depending on the type of gene mutation. Thus, circulating chylomicron and VLDL levels are elevated.

Often, lipoprotein lipase deficiency is diagnosed in childhood. As many as 25% of diagnoses are made in the first year of life, and a high proportion of patients receive a diagnosis by age of 10 years. However, some patients may receive a diagnosis later in life, as they may remain asymptomatic until adulthood.

The clinical findings of lipoprotein lipase deficiency include the following:

Lipemia retinalis has a creamy pink appearance owing to scattering of light by large chylomicrons. Eruptive xanthomas result from extravascular phagocytosis of chylomicrons by macrophages, with skin deposition (as are shown in Figures 1 and 2). Xanthomas are usually painless.[2]

Lipemia retinalis and eruptive xanthomas are classic findings in hypertriglyceridemia syndromes, especially at triglyceride levels exceeding 2000 mg/dL. Both physical examination findings were seen in this patient. Biopsy of the xanthomas revealed fat-laden macrophages (as is shown in Figure 3). Once triglyceride levels are lowered, these clinical findings can be reversed.

Comments

3090D553-9492-4563-8681-AD288FA52ACE
Comments on Medscape are moderated and should be professional in tone and on topic. You must declare any conflicts of interest related to your comments and responses. Please see our Commenting Guide for further information. We reserve the right to remove posts at our sole discretion.
Post as:

processing....