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Hereditary TTP and Hemolytic Anemia in Newborns | ResearchHub

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Hereditary TTP and Hemolytic Anemia in Newborns

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Hereditary TTP and Hemolytic Anemia in Newborns

Christa I. DeVette, Nishant Tiwari, James N. George, Kisha A. Beg, Sami Ibrahimi, Rose M. Doolittle

Pediatrics2026doi:10.1542/peds.2025-075598

Abstract

Hereditary thrombotic thrombocytopenic purpura (hTTP) is a thrombotic microangiopathy due to severe ADAMTS13 deficiency. hTTP typically presents in adulthood with thrombocytopenia, hemolytic anemia, and/or neurologic abnormalities. However, nearly half of the patients with hTTP are symptomatic at birth, most commonly presenting as severe jaundice secondary to hemolysis. Turbulent blood flow during birth puts neonates at high risk for thrombotic events and subsequent hemolytic anemia. We present a case series of 3 siblings with ADAMTS13 loss-of-function variants, all of whom required neonatal exchange transfusion. These siblings are now in their 30s and were diagnosed with hTTP between the ages of 13 and 18. One sibling experienced a neonatal stroke, while another sibling required a leukemia workup in her childhood because of hTTP. They remain in good health as adults. Two of them receive recombinant ADAMTS13 treatment for their deficiency. A recent report found that only 5% of patients with hTTP were correctly diagnosed at birth—underscoring the importance of having a high index of suspicion in the neonatal period for the anemic and thrombocytopenic newborn with nonimmune hemolytic anemia. With newly Food and Drug Administration–approved recombinant ADAMTS13 therapy and rapid diagnostic testing for ADAMTS13 levels, it is imperative that pediatricians and neonatologists recognize this rare but treatable form of recalcitrant jaundice. We propose a diagnostic algorithm to assist clinicians in neonatal diagnosis of hTTP in hopes of mitigating the need for exchange transfusions and extensive hematologic workups later in life. Timely diagnosis would prompt targeted treatment, which can prevent long-term neurologic and renal sequelae.

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Evidence sources: crossrefpubmedeuropepmcunpaywalldatacite

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Christa I. DeVette#1 Nishant Tiwari#2 James N. George#3 Kisha A. Beg#4 Sami Ibrahimi#5 Rose M. Doolittle#6

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External reference records

Hereditary thrombotic thrombocytopenic purpura

10.1056/nejmra1813013 · 2019

Global prevalence of hereditary thrombotic thrombocytopenic purpura determined by genetic analysis

10.1182/bloodadvances.2024013421 · 2024

Infants with congenital diseases identified through newborn screening-United States, 2018–2020

10.3390/ijns9020023 · 2023

Morbidities and mortality in patients with hereditary thrombotic thrombocytopenic purpura

10.1182/bloodadvances.2021005760 · 2022

Natural history of Upshaw-Schulman syndrome based on ADAMTS13 gene analysis in Japan

10.1111/j.1538-7836.2011.04341.x · 2011

High prevalence of hereditary thrombotic thrombocytopenic purpura in central Norway: from clinical observation to evidence

10.1111/jth.13186 · 2016

Clinical practice guideline revision: management of hyperbilirubinemia in the newborn infant 35 or more weeks of gestation

10.1542/peds.2022-058859 · 2022

Complement factor H mutation in familial thrombotic thrombocytopenic purpura with ADAMTS13 deficiency and renal involvement

10.1681/asn.2005010086 · 2005

The activity of the von Willebrand factor cleaving protease ADAMTS-13 in newborn infants

10.1046/j.1538-7933.2003.00575.x · 2004

Rapid ADAMTS13 activity assays for thrombotic thrombocytopenic purpura: a systematic review and meta-analysis

10.1182/blood.2025028416 · 2025

Recombinant ADAMTS13 in congenital thrombotic thrombocytopenic purpura

10.1056/nejmoa2314793 · 2024

Recombinant ADAMTS13 for hereditary thrombotic thrombocytopenic purpura

10.1056/nejmoa2211113 · 2022

Hereditary thrombotic thrombocytopenic purpura

10.3390/genes14101956 · 2023

Hereditary thrombotic thrombocytopenic purpura: the risk for death at birth

10.1002/rth2.12840 · 2022

Early indicators of neonatal-onset hereditary thrombotic thrombocytopenia purpura

10.1002/rth2.12820 · 2022

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