Abstract
We report a case with congenital thrombotic thrombocytopenic purpura (cTTP) who was followed up for more than 10 years before being diagnosed at the age of 14. Recurrent hemolytic and thrombocytopenic attacks occurred since her neonatal period, and deteriorated with age and worsened in winter. She also suffered from chronic headache and abdominal pain since her pubertal period. Both thrombocytopenic attacks and chronic complaints have been dramatically improved by FFP infusion. Activity of von Willebrand factor-cleaving protease (VWF-CP) and inhibitor to VWF-CP in her plasma were both under detectable levels. DNA analysis revealed that the patient is a compound heterozygous for ADAMTS13 mutation, the gene responsible for VWF-CP. Based on these findings, the patient was diagnosed as cTTP (Upshaw-Schulman syndrome, USS). This is one of the rare USS cases with a chronic relapsing course. Long-term sequelae of these patients is unknown. The recent advances in diagnostic procedure will certainly allow us to identify more USS patients including those with atypical clinical courses. We report the characteristic features of this patient found by the long-term follow-up and discuss the latest findings of USS.
