Fanconi Anemia: a lethal genetic challenge with therapeutic hope

Introduction: Fanconi anemia (FA) is a rare autosomal recessive inherited disorder characterized by genomic instability, congenital malformations, and progressive bone marrow failure. It presents a high predisposition to hematologic malignancies and solid tumors, making it a significant clinical and social concern. Aim: To comprehensively characterize the clinical progression, diagnosis, and treatment of Fanconi anemia through an updated literature review. Methods: A narrative review was conducted using 24 documents; including articles, clinical guidelines, and specialized manuals were reviewed, focusing on recent and relevant data on FA's diagnosis, pathophysiology, and treatment. Results: FA results from mutations in over 22 genes affecting the DNA repair pathway. Diagnosis is confirmed by chromosomal breakage tests using diepoxybutane or mitomycin C. Clinically, it presents with pancytopenia, multiple congenital anomalies, and cancer predisposition. The most effective treatment is hematopoietic stem cell transplantation, although supportive therapies like androgens and growth factors are also used. Lifelong multidisciplinary follow-up is essential to improve life quality and expectancy. Conclusions: Fanconi anemia is a severe and complex genetic disease. Prognosis has improved significantly due to advances in hematopoietic transplantation. Early diagnosis, interdisciplinary management, and continuous follow-up are key to optimizing clinical outcomes. Establishing regional disease registries is urgently needed to enhance care and research in Latin America.