Wiskott Aldrich Sendromu ve X E Bağlı Geçişli Trombositopeni Tanılarıyla Izlenen 23 Vakanın Demografik Özellikleri, Klinik, Laboratuvar Bulguları ve Klinik Seyirleri

Abstract

Wiskott Aldrich syndrome (WAS) is an X linked inherited immune deficiency caused by mutations occuring at WASp gene, characterized by microthrombocytopenia (microplatelet and low count of platelet), eczema and recurrent infections and has increased autoimmunity and lymphoreticular neoplasia risk. The milder form of WAS called as X linked thrombocytopenia (XLT) is caused by mutations in the WASp gene. XLT patients are thrombocytopenic at diagnosis also, but this patients do not carry the other findings of classic WAS phenotype. Hematopoietic stem cell transplantation from bone marrow, peripheral blood or cord blood is the only curative treatment for WAS. In our study; clinical presentations, demographic characteristics, laboratory findings, genetic defects, treatment and clinical courses of total 23 patients who were followed by WAS/XLT diagnoses were analyzed. In our study, all the patients were male and the mean age at diagnosis was 41 months. History of frequent infections (the most frequent otitis media and pneumonia), hemorrhage and eczema symptoms, positive family history were present in the majority of patients. All patients had thrombocytopenia and decreased MPV values at the time of diagnosis. 8 patients (34.7%) showed autoimmune manifestations during the follow up; the most common finding was autoimmune hemolytic anemia. No patients have malignancy during the study. Approximately half of the patients (47.8%) had complications associated with the disease; major gastrointestinal bleeding was observed most frequently. The underlying genetic defect was found in 13 patients and all of the mutations were different. Three mutations identified on exon 2, but the locations and clinical effects were different. All mutations had resulted in WAS clinic. Splenectomy was performed in 1 patient and stem cell transplantation from HLA matched relatives was performed in 9 patients. Five patients did not have any problem after BMT, chronic GVHD occurred in 2 patients and 1 patient died from septicemia. Consequently, bleeding diathesis findings at an early age should be received attention, WAS / XLT diagnosis should be considered and further research should be done if thrombocytopenia and small platelets have been detected in laboratory studies. Disease should be diagnosed as soon as possible before morbidity and mortality developed related to bleeding, infections, autoimmune findings and malignencies. Donor screening for BMT that only curative treatment option should be initiated immediately. Patients should be followed regularly for the development of malignancy and associated autoimmune disorders.