Abstract
Objective To analyze the potential role of colchicine monotherapy in patients with tumor necrosis factor receptor associated periodic syndrome (TRAPS) in terms of control of clinical and laboratory manifestations. Methods Patients with TRAPS treated with colchicine monotherapy were retrospectively enrolled; demographic, clinical and therapeutic data were collected and statistically analysed after having clustered patients according to different times at disease onset, penetrance of mutations, dosage of colchicine, and different disease manifestations. Results 24 patients (14 males; 15 with pediatric disease onset) treated with colchicine monotherapy were enrolled. Colchicine resulted in a complete response in 3 (12.5%) cases, partial response in 14 (58.3%) patients, and lack of response in 7 (29.2%) patients. There were not significant differences in colchicine response between pediatric and adult disease onset (p = 0.42), between low- and high-penetrance mutations (p = 0.62), and according to different dosages (p = 0.66). No significant differences were identified in the frequency of specific disease manifestations between patients experiencing any response to colchicine and patients with lack of response. Conclusions Colchicine monotherapy is useful in a low percentage of TRAPS patients; nevertheless, it could be attempted in patients with milder phenotypes and at a lower risk of developing reactive amyloidosis.
Highlights
Tumor necrosis factor receptor associated periodic syndrome (TRAPS) is an autoinflammatory autosomal dominant disease caused by mutations in the TNFRSF1A gene and is characterized by typically prolonged recurrent fever attacks
TRAPS is characterized by a protean spectrum of clinical features and severity depending on specific gene mutations: high-penetrance mutations generally manifest with an early onset, along with severe and typical manifestations; low-penetrance mutations are more frequently identified in adult-onset patients and often lead to less severe or atypical disease features with a very low risk for amyloidosis [2,3,4]
Complete response was defined as complete control of clinical and laboratory manifestations; partial response was meant as (i) a decrease in clinical severity of disease attacks after colchicine introduction testified by a mean reduction of body temperature ≥ 1°C during flares and a ≥30% decrease of erythrocyte sedimentation rate (ESR), C reactive protein (CRP), and serum amyloid A (SAA) assessed during inflammatory episodes, and (ii) a patient-reported improvement in clinical manifestations during flares for relapsing-remitting disease courses or outside of flares for chronic cases
Summary
Tumor necrosis factor receptor associated periodic syndrome (TRAPS) is an autoinflammatory autosomal dominant disease caused by mutations in the TNFRSF1A gene and is characterized by typically prolonged recurrent fever attacks. TRAPS is characterized by a protean spectrum of clinical features and severity depending on specific gene mutations: high-penetrance mutations generally manifest with an early onset, along with severe and typical manifestations; low-penetrance mutations are more frequently identified in adult-onset patients and often lead to less severe or atypical disease features with a very low risk for amyloidosis [2,3,4]. Colchicine, which represents the gold standard treatment in patients with familial Mediterranean fever (FMF) for controlling clinical manifestations and reactive amyloidosis [7], is generally considered useless for the management of TRAPS patients [8].
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