Clinical analysis on one patient with hemophilia A complicated with primary immune thrombocytopenia

Abstract

Objective To investigate the diagnosis, treatment and prognosis of hemophilia A combined with primary immune thrombocytopenia (ITP). Methods The hemophilia A patient with ITP (male, 30 years old)admitted to the Department of Hematology, Xuzhou Medical University Affiliated Hospital on February 21, 2017 was selected as the study subject. During hospitalization, he was repeatedly treated with coagulation factor replacement therapy strategy, as well as symptomatic treatment measures such as hemostasis, platelet transfusion, intravenous infusion of glucocorticoids, and intravenous immunoglobulin (IVIG). By retrospective analysis, his clinical data were collected, and the clinical features, diagnosis and treatment were summarized. This study met the requirements of the Helsinki Declaration of the World Medical Association revised in 2013, and the informed consent of the subjects was obtained, and informed consent was signed with him. Results ① This patient was diagnosed as hemophilia A more than 20 years ago. During that period, the patient achieved a obvious effect by cryoprecipitation and recombinant human FⅧ infusion. About a month ago, without obvious inducement, the patient developed hematuria, epistaxis and oral hemorrhage. His activity of FⅧ was only 21.3%, and the platelet count was just 3×109/L. The patient received phenethylamine, recombinant human FⅧ, methylprednisolone, and intravenous immunoglobulin (IVIG) , but which was not effective for him. ② After admission to our hospital on February 21, 2017, the results of laboratory tests showed that the patient′s platelet count was very low, only for 2×109/L. His activity of FⅧ was 14.3%, and activity of FⅨwas 49.8%. Activated partial thromboplastin time (APTT) prolonged to 50.2 s, APTT was 32.1 s after correction, APTT (incubated at 37 ℃ for 2 h) prolonged to 50.0 s, and APTT (incubated at 37 ℃ for 2 h) was 37.9 s after correction. Morphological examination of bone marrow cells showed that bone marrow cells proliferated actively, granulocytes and erythroid line cells were proliferated, and the morphology was normal, as well as megakaryocyte maturation was accompanied by thrombocytopenia. Abdominal ultrasound results showed that the liver area was dense, the gallbladder wall was rough, and the spleen was not large (about 9.7 cm × 7.0 cm). ③ After admission, combining with previous medical history, results of relevant laboratory examinations and auxiliary examinations, the patient was diagnosed as hemophilia A combined with ITP by excluding other secondary diseases which caused thrombocytopenia. ④ After admission, the patient was repeatedly treated with recombinant human FⅧ. But the patient′s highest activity of FⅧ was only 25.8%, and APTT prolonged to 45.0 s, which suggested that the patient was partially tolerant to treatment. After receiving multiple platelet transfusions, the patient′s platelet count was still low, and did not exceed to 20×109/L, which suggested that the treatment is invalid. On May 5, 2017, the patient started oral eltrombopag (75 mg/d). After 3 months of treatment, the patient′s platelet count was up to 55×109/L, and the evaluation of efficacy was effective. However, after one month of discontinuation of eltrombopag, the patient′s platelet count fell to 10×109/L, which suggested that his disease relapsed. Conclusions Patients with hemophilia A combined with ITP, were clotting factor deficiency and thrombocytopenia, the risk of bleeding of them were high, and the treatment is difficult. In addition to infusion of recombinant human FⅧ, glucocorticoid and other drugs should be given to elevate platelet count, but the prognosis of this patient is not good. Patients with hemophilia A combined with ITP are rare in clinic, and its standard and effective treatment strategy requires a large sample size and multi-center study to further explore. Key words: Hemophilia A; Purpura, thrombocytopenic, idiopathic; Hemorrhage; Drug therapy; Prognosis; Primary immune thrombocytopenia