Objective To assess the clinical, serological and genetic features of Japan
ese patients with CREST syndrome.
Patients and Methods Clinical features, autoantibodies and human histocompa
tibility leukocyte antigen (HLA) typing were studied in thirty patients wit
h CREST syndrome, including 29 females and one male, with a mean age of 59.
0 years (ranging from 40 to 76 years).
Results Interstitial pneumonia on chest X-ray and renal involvement were ra
re. Mitral regurgitation and tricuspid regurgitation were present in 56.7%
and 76.7%, respectively. Sjoren's syndrome (SS) and primary biliary cirrhos
is (PBC) were highly associated, however the positivity of the marker antib
odies to those syndromes, such as anti-SSA, anti-SSB, anti-mitochondrial (A
MA) and antismooth muscle autoantibodies were less frequent than that of pr
imary SS and PBC without the other autoimmune diseases, The histological fi
ndings of PBC were all early stages in Scheuer's classification. HLA-Cw6 we
re associated with CREST-PBC overlap syndrome (p<0.05). However the HLA ant
igen was not correlated with CREST syndrome, and the frequency of HLA-DR2 b
etween CREST syndrome with or without PBC was significantly different (p<0.
Conclusion It was suggested that there was a genetic difference between CRE
ST syndrome alone and CREST-PBC overlap syndrome and there were differences
(the positivity of AMA and the severity of bile duct lesion) between PBC a
nd CREST-PBC overlap syndrome.