Diagnosis of Fanconi Anaemia in child with massive pulmonary embolism: case report and literature review

Abstract

Fanconi anaemia is a rare inherited syndrome characterized by bone marrow failure, congenital abnormalities, and predisposition to malignancy. We report the case of a teenager who presented with massive pulmonary embolism and persistent moderate cytopenia. His biological workup revealed an abnormal chromosomal breakage that led to the diagnosis of Fanconi anaemia as well as antithrombin III deficiency. Despite the presence of other promoting factors, we discuss whether the risk thrombo-embolic events could be increased in patient with congenital or acquired aplastic anaemia.