Fanconi anemia (FA), first described in 1927 by Dr. Guido Fanconi, is a rare, inherited, autosomal recessive disorder affecting proteins involved in DNA repair and cell cycle regulation. This syndrome is characterized by congenital malformations (involving the limbs, skeletal system, kidneys and urinary structures, sensory organs (eyes and ears) and central nervous system), progressive bone marrow failure (aplastic anemia), increased cancer incidence (particularly head/neck epithelial cancers and acute myeloid leukemia (AML)) and a range of physical anomalies (including microcephaly and short stature).
Higher prevalence rates of FA have been observed in populations with a high incidence of consanguineous marriages, including South African Blacks, Turks, Saudi Arabians, Ashkenazi Jews and Iranians. Globally, the disorder affects approximately 1 in every 160,000 to 360,000 individuals, while the estimated carrier frequency is around 0.3%.
FA results from mutations in at least 22 genes involved in genomic stability and DNA repair. The majority of FA-related changes-accounting for more than 80%-are found in the FANCA, FANCG, and FANCC genes, whereas alterations in the remaining genes are comparatively rare.
The diagnosis of FA, though challenging due to variable expressiveness, relies on clinical suspicion confirmed through genetic analysis. FA should be suspected in cases of de novo bone marrow failure, especially in younger patients, or in the presence of spontaneous chromosomal breaks and certain cytogenetic abnormalities. Early diagnosis, while not currently improving cure rates, enables healthcare professionals to implement systematic follow-up protocols and timely interventions.
Therapeutic management of FA relies on vigilant, risk adapted monitoring of hematologic status-complete blood counts and bone marrow assessments are scheduled from every six months to six weeks based on cytopenia severity-to detect dysplasia or clonal abnormalities. Supportive care with red cell and platelet transfusions, infection prophylaxis, and occasional androgen therapy helps maintain blood counts while preparing for hematopoietic stem cell transplantation (HSCT). Transplantation, preferably before transfusion dependence or emergence of poor risk cytogenetic changes, offers the only curative approach to marrow failure. Simultaneously, long term surveillance addresses FA's systemic complications through regular cancer screenings and organ specific evaluations.
Despite the established role of physical and occupational therapy in managing skeletal abnormalities in FA, there is a notable scarcity of research specifically examining the effectiveness of structured exercise rehabilitation programs for this population. In a similar study, Ye et al. (2024) found that a structured exercise rehabilitation program improved quality of life, reduced fatigue, and enhanced physical performance in aplastic anemia patients undergoing HSCT. These promising outcomes support the potential benefit of a similar approach in Fanconi anemia patients. Based on the identified research gaps, the investigators hypothesize that a structured program of corrective exercise, physical therapy interventions, and rehabilitation will improve quality of life, physical function, and potentially influence hematological parameters in patients with Fanconi anemia.
The primary objective of this case study is to evaluate the effectiveness of these interventions on patient-reported quality of life. Secondary objectives include assessing improvements in muscle strength, fatigue levels, functional independence in activities of daily living, and monitoring potential changes in hematological indicators. Our intervention will encompass a structured exercise rehabilitation program beginning at an appropriate phase of treatment and continuing through a defined follow-up period. This case study aims to provide preliminary evidence to guide the development of comprehensive rehabilitation protocols specifically designed for the FA population, addressing both the skeletal abnormalities and the systemic manifestations of the condition.
