Research Activities
The significance of genetic analysis of the C1 inhibitor (C1-INH) gene
- The most definitive diagnosis
- Effective at diagnosing individuals with no family history and individuals with no obvious signs
(25% of HAE cases are sporadic)
(C1q levels help little to differentiate hereditary and acquired angioedema) - Helps with early diagnosis of children prior to onset -> Allows preparations to deal with episodes
(Baseline levels of C1 inhibitor activity in infants have yet to be established) - There is no database for Japanese or for the Asian region
Sites of mutations in the C1 inhibitor (C1-INH) gene in Japanese individuals with HAE
(Red arrows indicate sites identified by this research group)
Geographic distribution of patients
Steps in analysis
Research publications and presentations
- Yamamoto T, Horiuchi T, et al. Hereditary angioedema in Japan: Genetic analysis of 13 unrelated cases. American Journal of Medical Sciences 343(3):210-214, 2012
(a quote from the Journal’s website: The American Journal of The Medical Sciences (AJMS), founded in 1820, is the 2nd oldest medical journal in the United States.) - Kasamatsu Y, Yoshinoya K, Kasamatsu Y, Yamamoto T, Horiuchi T and Kadoya M. A case of hereditary angioedema involving recurrent abdominal attacks. Intern Med 50: 2911-2914, 2011
- Differentiation and Treatment of Edema of Sudden Onset was presented at the 48th Complement Symposium (City of Nagoya) in Sept. 2011.
- Responses to Edema of Sudden Onset: Differential Diagnosis and Treatment of Hereditary angioedema (HAE) was featured in the Japan Medical Journal, Academics in June 2011 (June 4, 2011 edition, No. 4545)
- C1 Inhibitor Deficiency and Hereditary Angioedema (HAE) was featured in An Introduction to Complements in April 2011 (pub. By Medical View in April 2011)