Familial High-Density Lipoprotein Deficiency (Tangier Disease): The Third Italian Case

Tangier disease (McKusick 20540) is caused by a severe deficiency of normal high density lipoprotein (HDL). Its clinical and pathological features depend on storage of cholesteryl esters in liver, spleen, lymph nodes, thymus, intestinal mucosa and tonsils. Diagnosis is usually suspected because of enlarged tonsils (one third of patients), peripheral neuropathy (one third), and spleen enlargement or hypercholesterolemia or familial screening (one third) (Herbert et al., 1983). Liver enlargement is present in only one third of patients and is usually not severe. Diarrhoea and abdominal pain are common. Peripheral neuropathy has been found in a recent review (Pietrini et al., 1985) in 19 out of 33 patients.