Cryopyrin associated periodic syndrome (CAPS)

The CAPS syndrome was originally described as three different clinical syndromes: MuckleWells-syndrome (MWS), familial cold urticaria syndrome (FCAS) and chronic infantile neurological, cutaneous, and articular syndrome (CINCA). Later it was shown that the three clinical syndromes are caused by defects in the same gene. It has become clear in recent years that many patients have symptoms that overlap within the various disorders.

 

Signs and symptoms

  • Muckle-Wells syndrome (MWS), characterized by fever with recurrent urticaria (hives) and hearing loss.
  • Familial cold autoinflammatory syndrome (FCAS) Patients with FCAS have a fever, conjunctivitis and a skin rash after exposure to cold.
  • Chronic infantile neurological cutaneous and articular syndrome (CINCA) CINCA is a serious disorder that manifests shortly after birth with severe rashes and sterile osteomyelitis. Patients also have a chronic meningitis. If left untreated the condition as a high mortality.

 

Genetics

CAPS is, like TRAPS, an autosomal dominant inherited disease. A mutation in only one of the two genes leads to the disorder. Most patients also have a relative with the same condition.

 

Treatment

Almost all patients respond very well to IL-1 blocking agents. This suppresses inflammation instantly. The use of anti-IL1 therapy has greatly improved qualtiy of life of patients with CAPS.