[Heart without HDL.Tangier disease].
A 37-year-old man was referred to our lipid clinic because of profound plasma lipid alteration. He presented large and orange tonsils, hepatosplenomegaly. No corneal opacities or other ocular abnormalities as well as no nervous system abnormalities were evident. Haematologic alterations included thrombocytopenia and stomatocytes. HDL and apolipoprotein A-I concentrations were 4 and 3.9 mg/dL, respectively. Because of a severe coronary atherosclerosis documented by coronary angiography, he underwent percutaneous revascularization. Nine months later, he experienced restenosis of the proximal anterior descending coronary artery and was referred for CABG. The patient was diagnosed with Tangier disease on the basis of the pathognomonic triad of the disease: HDL deficiency, low plasma cholesterol concentration accompanied by normal (or even elevated) triglyceride levels and hyperplastic orange tonsils.
Puntoni
Maria Rita
MR
Scuola Superiore Sant'Anna, Pisa.
Bigazzi
Federico
F
Sbrana
Francesco
F
Pennato
Benedetto
B
Sampietro
Tiziana
T
D000328:Adult; D015415:Biomarkers / Q000097:blood; D002318:Cardiovascular Diseases / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D008076:Cholesterol, HDL / Q000097:blood* / Q000172:deficiency; D003937:Diagnosis, Differential; D006801:Humans; D008297:Male; D014066:Palatine Tonsil / Q000473:pathology*; D010375:Pedigree; D011379:Prognosis; D013631:Tangier Disease / Q000097:blood / Q000175:diagnosis* / Q000235:genetics; D014280:Triglycerides / Q000097:blood*
D015415:Biomarkers; D008076:Cholesterol, HDL; D014280:Triglycerides