The febrile episodes in HIDS typically last 3-7 days. The fever episodes are accompanied by the maculopapular rash, abdominal pain, and arthralgias. Onset is almost always within the first year of life. Episodes are often triggered by childhood immunizations. HIDS is seen mainly in people of northern European ancestry, particularly the Dutch.
HIDS is caused by recessive mutations in the mevalonate kinase gene, resulting in reduced production of geranylgeranyl pyrophosphate. HIDS is something of a misnomer in that some affected patients with mevalonate kinase mutations have normal IgD levels.
As yet there's no consensus on the treatment of HIDS, Dr. Kastner said.
CAPS. The cryopyrin-associated periodic syndromes consist of three diseases caused by dominant mutations in one gene, NLRP3, which encodes the cryopyrin protein involved in interleukin-1beta activation. The three cryo-pyrinopathies are neonatal-onset multisystem inflammatory disease (NOMID), Muckle-Wells syndrome, and familial cold autoinflammatory syndrome (FCAS).
What these three diseases have in common is fever, urticarial rash, and excessive production of IL-1beta. Patients with NOMID experience fever nearly every day, while in those with FCAS the fever and hives-like rash develop within a couple of hours after exposure to cold.
Cryopyrin is a central component of the inflammasome, a macromolecular scaffold promoting activation of caspase-1.
Dr. Kastner and his coworkers pioneered anti-IL-1 therapy with anakinra in CAPS patients.
Dr. Kastner declared having no relevant financial interests.
Unnecessary exploratory laparotomies are common in FMF patients because of tsevere abdominal pain.
Source DR. KASTNER