The histopathology of tangier disease

Abstract

Tangier disease is a familial cholesterol storage disease, characterized by absence of high density plasma lipoproteins, and low plasma cholesterol. In childhood the patients are well except for very large tonsils with bright orange-yellow streaks. Adults may have slight splenomegaly, and may present with peripheral neuropathy or intermittent diarrhoea. Nine cases have been reported in the English literature, and the authors saw 2 others. The first was a girl aged 6 yr. who had large yellow plaques at the site of previous tonsillectomy. Microscopically, there were broad bands of very pale macrophages between the lymphoid follicles in tonsillar and adenoidal tissue. The second was a boy aged 5 yr., from a family unrelated to the other case. This boy died from the effects of cerebral birth trauma, and was found incidentally at necropsy to have bright yellow streaks in tonsils, thymus, lymph nodes, ileum and colon. These were due to collections of 'foam' cells which were shown on Sudan IV-Schultz staining to be laden with cholesterol in small intracellular acicular crystals as well as in droplets. The storage cells are similar to those seen in Niemann-Pick or Hand-Schuller-Christian disease, but in Tangier disease they are differently distributed, being least numerous in liver and bone. Tangier disease runs a very benign course. The author's case is the first necropsy report of this condition. The diagnosis was confirmed biochemically by demonstrating the absence of high density lipoproteins from the plasma of the girl, and by finding low plasma levels of high density lipoproteins in both parents of the deceased boy.