Med. praxi. 2023;20(1):10-16 | DOI: 10.36290/med.2023.001

Hereditary periodic fevers from the group of autoinflammatory diseases

MUDr. Jana Fráňová, MUDr. Marcel Schüller, Ph.D.

Centrum dětské revmatologie, Pediatrická klinika Fakultní nemocnice Brno a Lékařské fakulty Masarykovy univerzity Brno

Autoinflammatory diseases (AID) are a group of rare inflammatory diseases caused by the dysregulation of nonspecific immunity mechanisms. In the absence of an obvious cause, they result in spontaneous general and/or local manifestations of inflammatory activity. Typical autoinflammatory diseases include periodic fever syndromes. These include in our country prevailing periodic fever associated with aphthous stomatitis, pharyngitis and lymph node inflammation (PFAPA syndrome), in which the cause is multifactorial and the genetic cause has not yet been defined, as well as classic monogenic fevers, such as Hyper-IgD syndrome or Familial Mediterranean fever, with genetic mutations already known. Genetically linked fevers are suspected when there is a family history of febrile episodes, the onset of problems at an early age, but also when there are recurrent associated symptoms, such as skin, eye or joint symptoms. The main risk of untreated monogenic periodic fevers is the development of secondary amyloidosis. Early anti-inflammatory treatment can prevent the development of organ damage, including renal failure.

Keywords: autoinflammatory disease (AID), periodic fever syndrome.

Accepted: March 2, 2023; Published: March 13, 2023  Show citation