Person: YILMAZ, ASU FERGÜN
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YILMAZ
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ASU FERGÜN
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Publication Open Access Hereditary hyperferritinemia-cataract syndrome in a family with HFE-H63D mutation(2023-03-01) YANIK, AHMET MERT; YILMAZ, ASU FERGÜN; TOPTAŞ, TAYFUR; Eris T., YANIK A. M., Demirtas D., Yilmaz A. F., TOPTAŞ T.Hereditary hyperferritinemia-cataract syndrome (HHCS) is a rare genetic condition characterized by persistent hyperferritinemia (usually ferritin >1,000 ng/mL) without tissue iron overload, with or without early-onset slow-progressing bilateral nuclear cataract. It was first identified as a new genetic disorder in 1995, and since then genetic sequencing studies have been carried out to identify associated mutations in affected families. New mutations around the world are still being reported in the iron-responsive element (IRE) of the L-ferritin gene (FTL) to this day. Many clinicians remain unaware of this rare condition. The co-occurrence of FTL mutations and hereditary hemochromatosis (HH) mutations, especially H63D, on the HFE gene has been reported in the literature, which often leads to a diagnosis of HH, missed diagnosis of HHCS, incorrect treatment with phlebotomies and the occurrence of associated iatrogenic iron deficiency anemia. We herein report the case of a 40-year-old woman with spontaneous facial freckling, bilateral cataracts, homozygosity for HFE H63D mutation, iron deficiency anemia, and hyperferritinemia, who has been treated with phlebotomy and iron chelation therapy to no avail. Eleven years after being diagnosed and treated for HH, a reevaluation of her clinical presentation, laboratory results, medical imaging, and family history led to the recognition that her case is explained not by HH, but by an alternative diagnosis, HHCS. Our main objective in this report is to increase clinical awareness about HHCS, an often-unknown differential diagnosis of hyperferritinemia without iron overload, and to prevent adverse medical interventions in HHCS patients.Publication Open Access Acquired hemophilia a in adults: A multicenter study from Turkey(2023-01-01) YILMAZ, ASU FERGÜN; Davulcu E. A., DEMİRCİ Z., YILMAZ U., AR M. C., ÜSKÜDAR TEKE H., Karakus V., Ciftciler R., Selim C., YAVAŞOĞLU İ., Durusoy S. S., et al.Acquired hemophilia A (AHA) is a rare disease caused by autoantibodies inhibiting factor VIII (FVIII) activity. Although the conditionis usually idiopathic, there may be other underlying diseases. Treatment consists of two steps: treatment of acute bleeding and immunosuppression. In this multicenter study, we aimed to demonstrate the clinical characteristics, management details, and survival of AHA patients in Turkey. Data was collected from eleven centers in Turkey. aPTT, FVIII, FVIII inhibitor, and hemoglobin (HB) levels, mixing test results, and demographics at diagnosis, treatment information, adverse events, bleeding episodes during follow-up, relapses, and outcome were analyzed. Twenty-nine patients were analyzed (58.6% female). No underlying disorder could be detected in 14 patients. The most prevalent etiologies were pregnancy, malignancy and infections. The median FVIII activity and FVIII inhibitor titer at diagnosis were 0.7% (0.0-29.4%) and 32.6 BU (0.6-135.6 BU) respectively. Bleeding was severe in 44.8% of patients. The HB value was significantly lower in patients with severe bleeding. Most of the patients (n = 25, 86.2%) had only one bleeding episode without relapse, three patients (10.3%) had two bleeding episodes, and one patient had more than three bleedings. 21 (75%) patients received hemostatic therapy. The use of recombinant FVIIa was slightly higher than activated prothrombin complex concentrate (15 versus 10 patients). Immunosuppressive treatment was initiated in 26 (93%) patients. Regimens containing steroid, cyclophosphamide, and rituximab in different combinations were the most preferred. The median follow-up period was 13 months (2-156 months). Median overall survival was 154.97 months. Four and six-year survival were 90.9 +/- 0.8% and 77.9 +/- 14.1% respectively. This is a unique study that investigated the demographic characteristics, treatment approaches, and patient survival of AHA in Turkey.Publication Open Access Is It Rational to Study Coagulations Test Routinely before Operations and Invasive Procedure: Single Center Retrospective Study(2019-07-17) YILMAZ, ASU FERGÜN; Yılmaz, Fergün; Karslı, Tuğçe; Kiper, Demet; Gediz, Fusun; Payzın, BahriyeBackground: Detailed history taking, physical examination and laboratory tests are useful tools to document any abnormal bleeding risk before an operation or an invasive procedure. Although coagulation tests are routinely used to demonstrate the pathological situations at the coagulation cascade or to follow-up the anticoagulation therapies, their role in determining the bleeding risk in preoperative patients is controversial. Materials and Methods: In this study, we aimed to evaluate the patients referring to our hematology clinic at Izmir Katip Celebi University Hospital for preoperative consultation due to elevated levels of coagulation tests. Results: Fifty-six patients with high PT/PTT levels were enrolled in this study. Twenty-six (46.4%) patients were male and 30 (53.6%) were female. The median age was 34 (18-75) years. We documented bleeding history in 12 (21.4%) patients. The patients having a bleeding history revealed mostly abnormal uterine bleeding, epistaxis, and gingival bleeding. Life threatening bleeding was not reported in any of the patients. The operations were cancelled or postponed at least one month in 38 (67.8%) and 10 (17.8%) patients, respectively. Per-operative or post-operative abnormal bleeding was not documented. We did not find any statistically significant difference between groups with or without elevated coagulation tests in terms of abnormal bleeding in the operations. Conclusion: Coagulations tests should be studied in selected group of patients. Additionally, mildly elevated results should be interpreted carefully to decrease the rate of cancellation and delay in operations and unnecessary increase in costs.Publication Open Access Peripheral T-Cell Lymphoma Coexisting with Autoimmune Hemolytic Anemia: Analysis of Clinical Features(2024-01-01) DEMİRTAŞ, DERYA; YANIK, AHMET MERT; YILMAZ, ASU FERGÜN; ATAGÜNDÜZ, IŞIK; TUĞLULAR, AYŞE TÜLİN; TOPTAŞ, TAYFUR; Candan O., Naghizada N., DEMİRTAŞ D., YANIK A. M., Salim S., Menguc M. U., Arikan F., YILMAZ A. F., ATAGÜNDÜZ I., TUĞLULAR A. T., et al.Autoimmune hemolytic anemia (AIHA) is characterized by the production of antibodies targeting red blood cells (RBCs) antigens. The diagnosis is based on the presence of a hemolytic anemia with a positive direct antiglobulin test (or Coombs test) and on the absence of any other hereditary or acquired cause of hemolysis, although direct antiglobulin test-negative cases are not quite uncommon (5% of 308 cases of AIHA recently reported by the Gruppo Italiano Malattie EMatologiche dell’Adulto [GIMEMA]) [1, 2]. AIHA can present in primary and secondary forms. Secondary AIHA generally includes factors such as connective tissue diseases, drugs, infections, and lymphomas [3]. Cases of AIHA accompanied by lymphoma are rare and are typically presented in the literature as case reports. Roughly one-fifth of AIHA patients have lymphoma, while 7–10% of lymphoma patients have co-existing AIHA, indicating a clinicopathological link between both diseases [4–6]. In clinical settings, AIHA is commonly associated with indolent B-cell lymphomas, whereas the combination of AIHA with peripheral T-cell lymphoma (PTCL) is rarely observed [7–11]. This study retrospectively analyzes the clinical data, laboratory characteristics, treatment processes, and prognosis of five patients with the coexistence of PTCL and AIHA who were diagnosed within the last 10 years in our center.Publication Metadata only Effect of inactivated and mRNA COVID-19 vaccines on thrombocytopenia in immune thrombocytopenia patients Efecto de las vacunas inactivada y de ARNm contra la COVID-19 sobre la trombocitopenia en pacientes con trombocitopenia inmunitaria(2024-01-01) SEZEN, DUYGU; YANIK, AHMET MERT; TOPTAŞ, TAYFUR; YILMAZ, ASU FERGÜN; ABDURAKHMANOV D., YANIK A. M., Menguc M., Arikan F., TOPTAŞ T., Atagunduz I. K., Tuglular T., Yilmaz A. F.This retrospective observational study was aimed to address the possible effects of inactivated and mRNA vaccines in immune thrombocytopenia patients related to exacerbation. To define exacerbation, more than 30% decrease in platelet counts from baseline or platelet counts decreased to less than 30×109/L and/or development of new bleeding were considered. Fifty-nine (male 30.5%, female 69.5%) out of 208 immune thrombocytopenia patients, were enrolled in the study. The median age was 47 (range18-86). A total of 171 vaccinations were performed in 59 patients. Thirty-eight and 62% of patients were vaccinated with Sinovac® and BioNTech®, respectively. Overall, 10 (16.9%) patients experienced decrease in platelet count below 30×109/L after vaccination. During the last year before pandemic, 19 of the same cohort (32.2%) experienced such decrease. After first, second and booster dose vaccinations, 12.7%, 13.8% and 15% of patients experienced exacerbation respectively; exacerbation with minor bleeding was 2.3% and all bleeding episodes were successfully treated by starting with steroid or increasing the steroid dose. We did not report any severe and life-threatening bleeding. A statistical difference in exacerbation was documented in patients vaccinated with mRNA vaccine (p =0.041) only after the first dose and younger patients experienced a higher rate of exacerbation without statistical significance (p=0.06) after the first dose. In conclusion, both mRNA and inactivated vaccines seem to be safe for immune thrombocytopenia patients with rare bleeding complications. Especially younger patients and those vaccinated with mRNA vaccines should be followed up closely for 1-2 months post vaccination for thrombocytopenia.