Preferred Label : Takayasu arteritis;
Type : Other, mainly phenotypes with suspected mendelian basis;
Alternative titles and symbols : Pulseless disease; Aortic arch syndrome; Young female arteritis;
Description : Hirsch et al. (1964) observed Japanese sisters with aortic arch syndrome. This common
disease in Japanese is not strikingly familial. The racial concentration of cases
is not necessarily genetic. The disease is relatively frequent throughout the Orient,
for example, in India among Caucasoid people of that country. Several studies suggest
an autoimmune basis. A modest familial aggregation may have the same basis as that
observed in other types of possible autoimmune disease, such as Hashimoto struma (140300).
Hermann and Pluhor (1964) observed affected European sisters. Numano et al. (1978)
reported the disorder in Japanese monozygotic twin sisters whose parents were healthy
but first cousins. They reviewed several other reports of familial occurrence including
3 mother-daughter pairs, 3 sister pairs, and 2 brother-sister pairs. Numano et al.
(1979) pointed out the high frequency in South America as well as in Asia. In 10 affected
women in North America (7 white, 2 Korean, 1 racially mixed (white-black)), Volkman
et al. (1982) found an association with MB3 and DR4. Yoshida et al. (1993) confirmed
an increased frequency of HLA-B52, as reported by Isohisa et al. (1978). Furthermore,
they showed that the disease-associated HLA-B alleles share an epitope composed of
glu63 and ser67. Matsuyama et al. (2003) measured circulating levels of the matrix
metalloproteinases 2 (MMP2; 120360), 3 (MMP3; 185250), and 9 (MMP9; 120361) in 25
patients with Takayasu arteritis and 20 age- and sex-matched healthy controls. Levels
of all 3 metalloproteinases were higher in patients with active disease than in controls
(p less than 0.0001 for each), and MMP2 levels remained elevated even in remission.
In contrast, an improvement in clinical signs and symptoms was associated with a marked
reduction in circulating MMP3 and MMP9 levels in all patients (p less than 0.05).
Matsuyama et al. (2003) concluded that MMP2 could be helpful in diagnosing Takayasu
arteritis and that MMP3 and MMP9 could be used as activity markers for the disease.;
Inheritance : ? Autosomal recessive vs. autoimmune;
Prefixed ID : 207600;
Origin ID : 207600;
UMLS CUI : C0039263;
Automatic exact mappings (from CISMeF team)
- Currated CISMeF NLP mapping
- DO Cross reference
- HPO term(s)
- ORDO concept(s)
- Semantic type(s)
- UMLS correspondences (same concept)
