A family case of cryopyrin-associated periodic syndrome

Cryopyrin-associated periodic syndrome (CAPS) is a rare heterogeneous disorder associated with mutations in the NLRP3 gene and increased secretion of interleukin-1 (IL-1). In the familial form, CAPS is inherited in an autosomal dominant manner, meaning that it is enough to receive one “defective” copy of the gene from one of the parents for the disease to develop. Rash is a key symptom, this symptom is the leading one. Regardless of which syndrome has developed in the patient, it has the same characteristics: it is a migratory macular-papular rash (like urticaria), which is usually not accompanied by itching. Early diagnosis and rapid onset of IL-1 inhibition prevent organ damage.