SHENG-CHIEH CHOULin, Dong-TasmnDong-TasmnLinLin, Ching-YehChing-YehLinHuang, Ying-ChihYing-ChihHuangHsieh, Han-NiHan-NiHsiehMING-CHING SHEN2021-01-062021-01-062021-01-020925-57101865-3774https://scholars.lib.ntu.edu.tw/handle/123456789/538599Congenital thrombotic thrombocytopenic purpura (cTTP) is a rare disease that is defined as biallelic mutations of ADAMTS13 causing persistent absence of ADAMTS13 activity. The confirmed diagnosis requires a genetic study, and cTTP has never been previously reported in Taiwan. Our patient was a 29-year-old Taiwanese woman who presented with severe hyperbilirubinemia at birth. She had severe thrombocytopenia and hemolytic anemia at the age of 1, and another acute TTP event at the age of 7 triggered by an upper airway infection. Regular plasma replacement was started at age 12 based on a presumptive diagnosis of cTTP. Clinical diagnosis of cTTP, with undetectable ADAMTS13 activity and absence of ADAMTS13 inhibitor, was confirmed at age 27. A genetic study showed a previously reported mutation c.1921G to A, inherited from her father, and a maternally inherited, novel mutation at exon 12, c.1435+1dupG, which results in a splicing site change and frame shift. Reports of cTTP from East Asia, except Japan, are scarce. Some prevalent ADAMTS13 mutations are also race or region specific. With this report, we hope to raise awareness among physicians in Taiwan, promote early, proper diagnosis of cTTP, and reveal the true prevalence of cTTP in the Taiwanese population.enADAMTS13 activity; ADAMTS13 gene mutation; ADAMTS13 inhibitor; Taiwan; cTTP[SDGs]SDG3folic acid; fresh frozen plasma; steroid; von Willebrand factor cleaving proteinase; ADAMTS13 protein, human; von Willebrand factor cleaving proteinase; adult; Article; autoimmune hemolytic anemia; awareness; case report; clinical article; cohort analysisjournal article10.1007/s12185-020-03068-533387295