Tangier Disease: An Unusual Cause of Chronic Diarrhea

Tangier disease is a rare autosomal recessive disease resulting in cholesterol deposition in different organs. We report a case of a 52-year-old white man who presented for chronic diarrhea without significant findings on noninvasive testing. Subsequent colonoscopy revealed endoscopically normal mucosa, with random biopsies remarkable for foamy macrophages in the lamina propria. Genetic testing showed adenosine triphosphate–binding cassette transporter gene mutation with low high-density lipoprotein and low low-density lipoprotein. To the best of our knowledge, this is the first report of chronic diarrhea in a patient with Tangier disease without any other clear etiology.