Abstract
We observed three patients with CREST (calcinosis, Raynaud's phenomenon, esophageal dysfunction, sclerodactyly, telangiectasia) syndrome and 2 with primary biliary cirrhosis (PBC)-incomplete CREST syndrome. In 85 patients with CREST syndrome reported in Japan, 21 (including our 5 cases) were immunogenetically investigated for HLA.
In the 85 patients with CREST syndrome, PBC, Sjögren's syndrome, pulmonary fibrosis, other liver diseases, chronic thyroiditis and pulmonary hypertension were overlapped in 29, 18, 7, 7, 5 and 3, respectively. PBC was clinically asymptomatic in 21 (72.4%) and symptomatic in 8 (27.6%) of 29 cases with PBC-CREST overlap syndrome.
Anticentromere antibody (ACA) were positive in 22 of 27 patients (81.4%) with CREST syndrome. In contrast, antimitochondrial antibody (AMA), which often coexists with ACA, were observed in 19 of 21 patients (90.4%) with PBC-CREST overlap syndrome.
HLA-B 7 and DR 1 were found more frequently in Japanese patients with CREST syndrome than in controls, but either DR 9 or DR 3 was found more frequently in the patients with PBC-CREST overlap syndrome. These results suggest genetic differences between CREST syndrome and PBC-CREST overlap syndrome.
