Takayasu disease is characterized by a pulseless condition which most often occurs in young females from Asian or South American areas. The cause of this disease remains obscure. Recently we encountered monozygotic, Japanese identical twin sisters, both of whom were diagnosed as having Takayasu disease. A genetically related factor was considered and HLA analysis was carried out. A population study on HLA typing analyses of 65 patients with Takayasu disease revealed a high frequency of HLA-B5 as compared with 128 healthy Japanese (chi2 :17.0, P less than 10(-4)). Subgroups of B5, Bw51 and Bw52 were successively studied in 82 patients with this disease. Bw51 antigen was found in 12.2% of patients with Takayasu disease and in 19.5% of 128 healthy Japanese. Contrarily, Bw52 antigen was confirmed in 43.9% of patients, a statistically significant frequency with the level of 26.5 in the chi2 test (cP less than 3 x 10(-4)) when compared with 12.5% in normal Japanese. Thus a genetically related factor in the pathogenesis of Takayasu disease has to be considered.
SUMMARY Takayasu's disease is well-known for its characteristic clinical features and its elusive etiology. Recently, we encountered twin Japanese sisters, both of whom were diagnosed as having Takayasu's disease. The parents, two sisters, and one brother are healthy. Family history revealed the parents are first cousins. Analyses of several blood types and HLA typing were performed on all members of the family, and it was confirmed that these twins are monozygotic. Moreover, HLA typing analyses revealed that one haplotype found in the father was passed only to these twins. The history of consanguinity of the parents, the occurrence in twins, and the results of HLA typing suggest a genetic factor in the etiology of Takayasu's disease.
SummaryThe relationship between platelet surface negative charge and hyperfunction was examined by determining electrophoretic mobility (EPM), aggregability, and sialic acid of platelets in prostatic cancer, prostatic cancer with estrogen, prostatic cancer with estrogen and aspirin, prostatic hypertrophy, and healthy aged males. Estrogen treated prostatic cancer patients had significantly higher platelet EPM. A good linear correlation was found between sialic acid and EPM (r = 0.97, p <0.001). EPM was negatively correlated with primary aggregations by adrenaline and ADP but not with secondary or maximum aggregations, suggesting increased surface negative charge may inhibit primary aggregation. Estrogen and platelet population changes influenced surface negative charge. Neuraminidase removal of platelet surface sialic acid resulted in dose-dependent decreases of EPM which paralleled decreases in sialic acid. Aspirin treated patients and platelets incubated with aspirin in vitro both showed increased platelet EPM. These results suggest that platelet surface negative charge may directly affect platelet function.
In an attempt to provide support for the genetic link theory as related to the etiology of Takayasu's disease, we analyzed simultaneously A, B, and D loci of HLA antigens in 75 Japanese patients with the disease. Serving as control were 128 healthy Japanese. A statistically significant high frequency of BW52 and DHO was confirmed with the levels being 25.6 and 10.4, respectively, in the chi 2 test. A haplotype of A9-BW52-DHO was frequently evident in these patients as compared to the controls, and here also the statistical difference was significant. There appears to be a closer relationship of the gene to BW52 than to DHO. A survey of the homozygote of BW52 revealed 6 of 75 patients with BW52; however, statistically speaking, this rate did not differ from the expected one. Thus, our analysis of HLA illustrates the genetic factors involved in Takayasu's disease. The genes are located between the B and D loci and are closer to BW52 than DHO and these genes have a dominant character.
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