Hereditary TTP and Hemolytic Anemia in Newborns.
Christa I DeVette, Nishant Tiwari, James N George et al.
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Case in brief
This case report discusses three siblings diagnosed with hereditary thrombotic thrombocytopenic purpura (hTTP) due to ADAMTS13 deficiency, presenting with severe jaundice at birth. All required neonatal exchange transfusion. As adults, they were diagnosed with hTTP between ages 13 and 18, with one sibling experiencing a neonatal stroke. They are currently in good health, with two receiving recombinant ADAMTS13 treatment.
What made this case unusual
The siblings presented with symptoms of hTTP at birth, a rare occurrence, highlighting the need for awareness of this condition in neonates.
Diagnostic / clinical pearl
Clinicians should maintain a high index of suspicion for hTTP in anemic and thrombocytopenic newborns with nonimmune hemolytic anemia to facilitate timely diagnosis and treatment.
Why it matters
Recognizing hTTP early can prevent the need for exchange transfusions and reduce the risk of long-term complications such as neurologic and renal issues.