Fanconi Anemia: Early Diagnosis and Differentiation from Other Aplastic Bone Marrow Disorders

Fanconi anemia (FA) is a rare hereditary syndrome characterized by chromosomal fragility, congenital malformations, and a predisposition to develop bone marrow aplastic differentiation and cancer. Although traditionally considered a pediatric disorder, many patients are diagnosed in adulthood, underscoring the importance of early diagnosis to improve the prognosis and quality of life for those affected.

Diving into Diagnosis and Differentiation

The diagnosis of Fanconi anemia can be complex due to its heterogeneous clinical presentation. Patients may exhibit a variety of physical anomalies, such as microcephaly, short stature, and limb abnormalities, which can be confused with other genetic conditions. A recent study highlights the importance of considering FA in the differential diagnosis of patients with VACTERL-H syndrome, which includes vertebral anomalies, anal atresia, and congenital heart defects, among others [1].

The DEB test (detection of chromosomal fragility) is a crucial diagnostic tool for confirming the presence of FA. This test evaluates the cellular response to agents that induce DNA breaks, revealing the characteristic chromosomal fragility of the disease [2]. Additionally, the identification of mutations in specific genes associated with FA provides definitive genetic confirmation [3].

It is essential to differentiate FA from other bone marrow aplastic disorders, such as Diamond-Blackfan anemia, which also presents erythroid aplasia but with a distinct genetic and clinical profile [4]. The presence of elevated erythrocyte adenosine deaminase levels may assist in differentiation, although it is not pathognomonic for FA.

Conclusions

Early diagnosis of Fanconi anemia is essential for implementing appropriate management strategies and improving patient prognosis. Identifying specific clinical and genetic features, along with the use of diagnostic tests such as the DEB test, is fundamental for differentiating FA from other bone marrow aplastic conditions. Interdisciplinary collaboration and continuous monitoring are key to the successful management of this complex disease.

Referencias

• [1] Thinking of VACTERL-H? Rule out Fanconi Anemia according to PHENOS.
• [2] Fanconi anemia is characterized by delayed repair kinetics of DNA double-strand breaks.
• [3] Diagnosis, genetics, and management of inherited bone marrow failure syndromes.
• [4] Diamond-Blackfan Anaemia: an overview.

Created 13/1/2025