Abdominal localization of Tangier disease mimicking a pancreatic neoplasm

European Journal of Gastroenterology and Hepatology

Volumn 20, Issue 10, 2008, Pages 1028-1031

  Sperti, Cosimo ^a   Frison, Laura ^a   Berselli, Mattia ^a   Scapinello, Antonio ^b   Gasparoni, Piero ^b   Pedrazzoli, Sergio ^a  

^a UNIVERSITY OF PADOVA   (Italy)

^b Castelfranco Veneto Hospital   (Italy)

Author keywords

High density cholesterol; Pancreas; Pancreatic neoplasms; Tangier disease

Indexed keywords

APOLIPOPROTEIN A; CONTRAST MEDIUM; FLUORODEOXYGLUCOSE F 18; HIGH DENSITY LIPOPROTEIN CHOLESTEROL; LIPID; PENTETREOTIDE IN 111;

ABDOMEN; ABDOMINAL PAIN; ADULT; ARTICLE; CASE REPORT; CELL INFILTRATION; CRYSTAL; DISEASE ACTIVITY; DISEASE PREDISPOSITION; DRUG UPTAKE; ECHOGRAPHY; FEMALE; GIANT CELL; HISTIOCYTE; HISTOLOGY; HUMAN; INFLAMMATORY CELL; LIPID ANALYSIS; LIPID STORAGE; MOTOR NEUROPATHY; MULTIPLE ORGAN FAILURE; NUCLEAR MAGNETIC RESONANCE IMAGING; PANCREAS EXAMINATION; PANCREAS RESECTION; PANCREAS TUMOR; PANCYTOPENIA; POSITRON EMISSION TOMOGRAPHY; PRIORITY JOURNAL; SCINTIGRAPHY; SENSORY NEUROPATHY; SPLEEN SIZE; SPLENECTOMY; SPLENOMEGALY; TANGIER DISEASE; THROMBOCYTOPENIA; TONSILLECTOMY; TUMOR LOCALIZATION;

DIAGNOSIS, DIFFERENTIAL; FEMALE; HISTIOCYTES; HUMANS; LYMPH NODES; MAGNETIC RESONANCE IMAGING; MIDDLE AGED; NECROSIS; PANCREAS; PANCREATECTOMY; PANCREATIC NEOPLASMS; SPLENECTOMY; TANGIER DISEASE; TIME;

EID: 53549105258     PISSN: 0954691X     EISSN: None     Source Type: Journal    
DOI: 10.1097/MEG.0b013e3282f76765     Document Type: Article

References (12)

1. Fredrickson DS, Altrocchi PH, Avioli LV, Goodman HC. Tangier disease: combined clinical staff conference at the National Institute of Health. Ann Intern Med 1961; 55:1016-1021.
2. Schaefer EJ, Triche TJ, Zech LA, Stein LA, Kemeny MM, Brennan MF, et al. Massive omental reticuloendothelial cell lipid uptake in Tangier disease after splenectomy. Am J Med 1983; 75:521-526.
3. Kolovou GD, Mikhailidis DP, Anagnostopoulou KK, Daskalopoulou SS, Cokkinos DV. Tangier disease four decades of research: a reflection of the importance of HDL. Curr Med Chem 2006; 13:771-782.
4. Rust S, Rosier M, Funke H, Real J, Amoura Z, Piette J-C, et al. Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1. Nat Genet 1999; 22:352-355.
5. Higgins CF. ABC transporters: from microorganisms to man. Annu Rev Cell Biol 1992; 8:67-113.
6. Langmann T, Klucken J, Reil M, Liebisch G, Luciani MF, Chimini G, et al. Molecular cloning of the human ATP binding cassette transporter 1 (hABC1 ). Evidence for sterol-dependent regulation in macrophages. Biochem Biophys Res Commun 1999; 257:29-33.
7. Oram JF, Lawn RM. ABCA1. The gatekeeper for eliminating excess tissue cholesterol. J Lipid Res 2001 ; 42:1173-1179.
8. Glomset JA. The plasma lecithins: cholesterol acyltransferase reaction. J Lipid Res 1968; 9:155-167.
9. Nofer JR, Herminghaus G, Brodde M, Morgenstern E, Rust S, Engel T, et al. Impaired platelet activation in familial high density lipoprotein deficiency (Tangier disease). J Biol Chem 2004; 279:34032-34037.
10. Vanhagen PM, Krenning EP, Reubi JC, Kwekkeboom DJ, Bakker WH, Mulder AH, et al. Somatostatin analogue scintigraphy in granulomatous diseases. Eur J Nucl Med 1994; 21:497-502.
11. Kubota R, Yamada S, Kubota K, Ishiwata K, Tamahashi N, Ido T. Intratumoral distrubution of fluorine-18-fluorodeoxyglucose in vivo: high accumulation in macrophages and granulation tissues studied by microautoradiography. J Nucl Med 1992; 33:1972-1980.
12. Kolouvo GD, Wade PD, Sengupta R, Cokkinos DV. Tangier disease with unusual clinical manifestations. Clin Genet 2003; 63:323-324.