Fanconi anemia: a single center experience of a large cohort

Özet

Fanconi anemia (FA) is an inherited disease, characterized by congenitalmalformations, short stature, progressive bone marrow failure andpredisposition to leukemia and solid tumors. The aim of this study was toevaluate the clinical and prognostic features of FA patients followed in asingle center.The charts of FA patients were reviewed 35 years retrospectively and a total of175 patients were included in the study in which 51.4% of patients were male.The mean age at diagnosis was 6.3±4.1 years. The incidence of microcephalywas 92.6%, skin findings were 88.0%, eye abnormality was 74.3%, thumband radius abnormality was 53.1%, urinary system abnormality was 30.9%,skeletal system abnormality other than thumb and radius was 18.9%, genitalsystem abnormality was 11.4%, cardiovascular system abnormality was11.4%, ear and hearing abnormalities were 9.7% and gastrointestinal systemabnormality was 5.7%. Short stature was present in 75.4% of the patients.Of the 175 patients 167 (95.4%) developed bone marrow failure duringfollow-up and the mean age of bone marrow failure was 7.1 ±3.7 years (1month-old-19.8 years). The first clinical symptom was thrombocytopenia in83.4% of patients. Malignancy developed in a total of 23 (13.1 %) patients(20 leukemia, 3 solid tumors) during follow-up. Of 175 patients, 35 (20%)underwent hematopoietic stem cell transplantation. Fatality rate amongpatients who underwent hematopoietic stem cell transplantation was 31.4%(11/35) and fatality rate among other patients was 63.4% (83/131; p<0.05).Of 94 patients who deceased, death was due to bleeding in 44.7%, infectionin 34%, leukemia progression in 16.0% and graft versus host disease in 5.3%.In terms of the number of patients included, this study is one of the largestcohorts with a remarkable duration of follow-up time. Hematopoietic stemcell transplantation was found to have a good impact on survival of patients.