What is the role of biopsy in the workup of low LDL cholesterol syndromes?

Updated: Mar 06, 2018
  • Author: Vibhuti N Singh, MD, MPH, FACC, FSCAI; Chief Editor: George T Griffing, MD  more...
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Answer

Intestinal biopsy may be needed, along with electron microscopy.

  • The endoscopic appearance of the mucosa of the small intestine may be whitish, although this characteristic is usually limited to the villi.

  • The diagnosis is confirmed by the typical hematologic finding of acanthocytosis and the appearance of the small-bowel biopsy specimen, in which the tip enterocytes are filled with lipid droplets. The villi are normal but are lined with fat-containing enterocytes (engorged with triglycerides) that constitute the lipid droplets.

  • In specialized cases, light and transmission electron microscopy may show fat-loaded enterocytes (from marked triglyceride accumulation).

Liver biopsy is rarely needed but may become necessary to assess for fatty liver, chronic liver disease, or cirrhosis and to rule out other causes of hepatomegaly, fatty liver, and transaminase elevation.


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