We report a new case of Tangier disease in Kochi Prefecture.
A 44-year-old man was admitted to our clinic in August, 1984, because of marked hypocholesterolemia and glycosuria.
He had following clinical features: 1) history of tonsillectomy for the enlarged tonsils; 2) enlargement of the liver and spleen; 3) thrombocytopenia (110, 000/cmm); 4) appearance of foam cells in the bone marrow. Results of the lipid and lipoprotein examinations were as follows: 1) hypocholesterolemia (64mg/dl) and hypertriglyceridemia (272mg/dl); 2) extremely low level of HDL-cholesterol (2.5mg/dl) and decreased ratio of cholesterol to triglyceride (0.58) in LDL; 3) extremely low levels of serum apolipoprotein A-I (less than 1.0mg/dl) and apolipoprotein A-II (1.1mg/dl); 4) relative increase of apolipoprotein A-I isoprotein 2; 5) normal level of apolipoprotein C-III (5.7mg/dl).
In the family study, no parental consanguinity was known. His parents, son and daughter were all found to have HDL-cholesterol levels that average half the normal mean. So they were thought to be heterozygote of Tangier disease.
These clinical and biochemical findings of the patient were consistent with the characteristic features of Tangier disease. However, this patient differed from previously reported cases in several respects.
He had a glycosuria and 75g OGTT revealed overt diabetic. And we observed the increased electrophoretic mobility of the beta-band in agarose after improved diabetic control. Another caracteristic was the slight increase of apolipoprotein A-I isoprotein 6. These findings were not described in most cases of Tangier disease and we considered that these unusual features might be the consequence of complicated lipoprotein metabolism in the patient by the affection of diabetes mellitus on Tangier disease. Regarding the clinical points, no signs of coronary artery disease and neurological abnormalities were observed at present.
In conclusion, he represents the second known family with Tangier disease in Japan.
