OVERVIEW
Tangier’s disease (TD) is also known as Tangier’s disease and alpha lipoprotein-free anemia. It is an autosomal recessive disorder. Due to impaired alpha lipoprotein synthesis, large amounts of cholesteryl esters accumulate in the reticuloendothelial system, intestinal mucosa and skin. It is characterized by enlarged tonsils with orange banding. Lymph nodes, liver and spleen may also be enlarged. Some cases are combined with peripheral neuritis.
Etiology
Autosomal recessive disease. As a result of impaired synthesis of alpha lipoproteins, large amounts of cholesterol esters accumulate in the reticuloendothelial system, intestinal mucosa and skin.
Symptoms
Tonsillar hypertrophy with orange streaks. The liver, spleen and lymph nodes may also be enlarged. In some patients, peripheral neuritis is combined.
Examination
Plasma HDL cholesterol level is less than 5 mg/dl, triglycerides are normal or elevated, celiac disease is reduced, and apolipoprotein A1 is absent or severely reduced.
Diagnosis
A preliminary diagnosis can be made on the basis of clinical signs. Typical changes can be identified by histochemistry.
Treatment
There is no specific therapy, tonsil hypertrophy can be removed when it causes upper respiratory tract obstruction, and its histochemical examination can prove lipid accumulation.