An Adult Case of Suspected A20 Haploinsufficiency Mimicking Polyarteritis Nodosa

This study presented the first case of a young Japanese female with suspected A20 haploinsufficiency (HA20) exhibiting symptoms similar to polyarteritis nodosa, including multiple medium-sized visceral arterial aneurysms and myocardial infarctions without typical risk factors. The patient experienced recurrent fever and diffuse hair loss, and genetic analysis revealed a novel TNFAIP3 mutation. Treatment with adalimumab initially reduced fever attacks, but a switch to golimumab and HCQ was necessary due to a psoriasis-like dermatitis and suspected SLE. The study highlighted the diverse clinical presentations of HA20, particularly in East Asia, and emphasized the need for further research to understand the disease's mechanisms and improve diagnosis.