A case of congenital thrombotic thrombocytopenic purpura presenting with renal dysfunction in adulthood caused by a novel compound heterozygous ADAMTS13 mutation.
Anzi Wang, Dongyun Su, Rong Chen et al.
✦ AI-curated · Sources linked
Case in brief
A 36-year-old male presented with acute thrombocytopenia and a 5-year history of chronic thrombocytopenia, alongside 3 months of renal dysfunction. Initially misdiagnosed with immune thrombocytopenia, he received glucocorticoids and a thrombopoietin receptor agonist, which were ineffective. Diagnosis of congenital thrombotic thrombocytopenic purpura was confirmed through genetic testing revealing compound heterozygous mutations in ADAMTS13. Treatment with fresh frozen plasma led to no clinical relapses during follow-up.
What made this case unusual
The case featured a novel pathogenic variant in the ADAMTS13 gene, contributing to the patient's congenital thrombotic thrombocytopenic purpura.
Diagnostic / clinical pearl
Clinicians should consider congenital thrombotic thrombocytopenic purpura in patients with unexplained thrombocytopenia and renal dysfunction, especially when initial treatments fail.
Why it matters
This case highlights the importance of genetic analysis in diagnosing atypical presentations of thrombotic thrombocytopenic purpura, which can lead to more effective management strategies.