An unusual presentation of Tangier disease with gallbladder involvement


Bektas M., Savas B., Cetinkaya H., Ensari A., Oztas E., Can B., ...Daha Fazla

ACTA GASTRO-ENTEROLOGICA BELGICA, cilt.71, sa.4, ss.397-400, 2008 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 71 Sayı: 4
  • Basım Tarihi: 2008
  • Dergi Adı: ACTA GASTRO-ENTEROLOGICA BELGICA
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.397-400
  • Eskişehir Osmangazi Üniversitesi Adresli: Hayır

Özet

Tangier disease is a rare, autosomally inherited disorder of lipoprotein metabolism characterized by absence or marked deficiency of normal high density lipoprotein (HDL) cholesterol in plasma resulting in the accumulation of cholesterol esters in various organs. A 57-year old male with a past medical history of hypertension, coronary artery disease and splenectomy admitted to our hospital for rectal bleeding. In routine laboratory tests thrombocytopenia, hypocholesterolemia and low HDL levels were detected. Colonoscopy revealed 1-3 mm sized, brownish, spotty lesions spread throughout the colonic mucosa. Histopathologically accumulation of foam cells which showed lipid vacuoles and myeline figures on electron microscopy were observed. Bone marrow biopsy was also suggestive of lipid storage disease. The laparoscopic operation performed for acute cholecystitis showed similar appearances in the gall bladder and liver. The case was diagnosed as rare presentation of Tangier disease with gallbladder involvement in view of the low HDL cholesterol level and systemic lipid deposition. (Acta gastroenterol. belg., 2008, 71, 397-400).