Distinct features of trisomy 8-associated autoinflammatory disease from Behçet's disease: case series and systematic...

To characterise patients with trisomy 8 presenting with autoinflammatory features, comparing them to patients with Behçet's disease (BD).

We comprehensively reviewed studies on trisomy 8-associated autoinflammatory symptoms from four online databases and analysed clinical data from both published cases and our institution. We then compared the clinical features of these patients with those of 657 BD patients from the Yokohama City University Registry.

Of 1,542 screened articles, 88 involving 181 patients were eligible, along with six additional patients from our institution, resulting in a total of 187 patients included. Fever was the most common symptom in patients with trisomy 8 (85.8%), followed by oral ulcers (80.8%), gastrointestinal lesions (76.1%), genital ulcers (54.7%), and skin lesions (53.7%). Compared to BD patients, trisomy 8 patients exhibited higher rates of fever and gastrointestinal involvement (p<0.001), but lower rates of oral and genital ulcers, uveitis, and skin involvement (p<0.001), with no significant difference in joint symptoms. Trisomy 8 patients were older and had lower haemoglobin levels, increased mean corpuscular volume, decreased platelet counts, and higher C-reactive protein levels than BD patients. Additionally, the mortality rate was significantly higher in trisomy 8-positive patients (odds ratio, 11.74; 95% confidence interval, 5.94-22.82).

Trisomy 8-associated autoinflammatory disease patients were older and had poorer prognoses, more gastrointestinal involvement, and less frequent oral and genital ulcers and skin involvement, making BD diagnosis less likely. Bone marrow examination should be considered for late-onset BD-like disease patients, particularly with recurrent fever.