Pulmonary involvement is extremely rare in thrombotic thrombocytopenic purpura. In this report, we present a girl patient with congenital thrombotic thrombocytopenic purpura, known as Upshaw–Schulman syndrome (USS), complicated with severe hemolysis and pulmonary hypertension (PH). The assay results of a disintegrin-like and metalloprotease with thrombospondin type 1 motifs 13 (ADAMTS13) activity measured by FRETS-VWF73 and ADAMTS13-act-ELISA were different. Hyperbilirubinemia (total bilirubin, 25.3 mg/dL) interfered strongly with the FRETS-VWF73 assay. Plasma levels of ADAMTS13 activity by act-ELISA were <0.5% of normal. The diagnosis of USS was confirmed by ADAMTS13 gene analysis, which showed compound heterozygous mutations of p.G139Vfs*17 and p.I673F. The p.G139Vfs*17 mutation was previously unreported, and its effect in splicing was confirmed by reverse transcription polymerase chain reaction. The patient received oxygen therapy for PH and exchange blood transfusion for severe hemolysis. The PH resolved without specific treatment. Based on these findings, the PH may have been caused by free hemoglobin that scavenged nitrogen oxide or platelet thrombi in the lungs caused by ADAMTS13 deficiency. Thus, severe PH can occur in neonatal patients with USS, and severe hemolysis might result in overestimation of ADAMTS 13 activity. Both possibilities are important for the diagnosis and management of USS.
Severe Hemolysis and Pulmonary Hypertension in a Neonate With Upshaw–Schulman Syndrome
POTENTIAL CONFLICT OF INTEREST: Koichi Kokame is the inventor on the patent for the FRETS-VWF73 assay. Yoshihiro Fujimura and Masanori Matsumoto are the inventors of the patent for chromogenic ADAMTS13 activity enzyme-linked immunosorbent assay.
FINANCIAL DISCLOSURE: The authors have indicated they have no financial relationships relevant to this article to disclose.
Nobuyuki Tsujii, Isao Shiraishi, Koichi Kokame, Midori Shima, Yoshihiro Fujimura, Yukihiro Takahashi, Masanori Matsumoto; Severe Hemolysis and Pulmonary Hypertension in a Neonate With Upshaw–Schulman Syndrome. Pediatrics December 2016; 138 (6): e20161565. 10.1542/peds.2016-1565
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