Fanconi's disease: a study of 43 cases in southern Tunisia.

Background. - To report the epidemiologic, clinical, biological features an d course of Fanconi's anemia in southern Tunisia. Patients and methods, - During a period of 12 years we observed 43 cases. F or each patient, careful clinical, biological (hemogram, myelogram, bone ma rrow biopsy, hemoglobin electrophoresis, karyotype) and radiological (skele ton X-raps, abdominal echography and intravenous urography) examinations we re performed All the patients who were at a pancytopenia stage were given a ndrogens. None had a bone marrow allograft. Results, - There were 24 girls and 19 boys. The mean age at diagnosis was 1 0 years and 9 months. The familial character was present in 53% of the case s. The most frequent initial complaint was anemic syndrome (69%). In ten ca ses (24%), the diagnosis has been established during a familiar investigati on. Malformations were present in all cases (abnormal pigmentation: 86% ske letal maturation retardation: 83%; facial dysmorphy: 76%: statural hypotrop hy: 65%; bone abnormalities: 53%: renal malformations: 44%). Anemia was pre sent in 88% of the cases, thrombocytopenia and neutropenia in ail cases. Bo ne marrow was hypoplastic or aplastic in all cases on biopsies. Spontaneous chromosomal breaks were found in 79% of the studied cases. Fetal hemoglobi n was increased in 80% of the studied cases with a mean level of 20.5%. Act uarial survival rate at 5 years was 48%, but long survival durations were r are (eight out of 43 patients). Discussion. - This disease, rare in the world, stems to be frequent in sout hern Tunisia. A normal karyotype (with classical techniques), found in five patients, could not discard the diagnosis; for this reason, the use of sen sitizing agents should improve the sensitivity of the rest. Besides, an inc reased level of fetal hemoglobin enabled us to suggest the diagnosis in som e cases. Androgenotherapy increased the survival duration to more than 5 pe ars in eight patients. However, bone marrow allograft remains the only poss ibility of cure. (C) 1998 Elsevier, Paris.