血液疾患と輸血ジャーナル

概要

Life-Threatening Hemorrhage and Severe Multiple Intrinsic Pathway Factors Deficiency : Genetic, Laboratory Analysis and Literature Review

Xu Ye, Xuhong Zhou, Xu Zhang

Cases with life-threatening hemorrhage and multiorgan failure resulting from severe multiple coagulation factors deficiency are very intractable in clinical practice. A 30-year-old male patient presented with abdominal distension, shock, hypoxia, uremia and hepatic insufficiency due to uncontrolled hemorrhage as a result of severe hemophilia B (HB) with high-titer inhibitor. Laboratory investigation showed that all his intrinsic pathway factor levels were less than 1%. High-titer inhibitors against F�?� and F�?� were detected. He was rescued with coagulation factor supplementation, alternative pathway factor administration, immunosuppressive therapy supported with intensive care. With inhibitor eradication, only his F�?� level was found to be less than 1%. F�?� gene sequencing and pedigree analysis disclosed that the patient is a homozygote of exon 2/3 deletion in F�?� gene and his mother is a heterozygous carrier of it. The factors interfering with laboratory results interpretation, molecular pathogenesis underlying his severe HB and factors precipitating his susceptibility to inhibitor development were discussed. The successful treatment experience in this case can also give some insight in the salvage therapy of cases with refractory bleeding due to severe HB with high-titer inhibitors.