First report of keratitis in familial cold autoinflammatory syndrome

Can J Ophthalmol. 2014 Jun;49(3):304-6. doi: 10.1016/j.jcjo.2014.01.007.

Abstract

Objective: To report corneal manifestations of familial cold autoinflammatory syndrome (FCAS) for the first time.

Design: small case series

Participants: Medical records of three members of a single family were reviewed after obtaining institutional review board (IRB) approval and informed consent.

Methods: All three members presented with a long history of maculopapular rash after cold exposure starting in childhood associated with nausea, low-grade fever, fatigue and arthralgia that lasted less than 24 hours. Their ocular manifestations consisted of ocular pain, photophobia and keratitis with subsequent stromal haziness.

Results: Patients underwent systemic therapy with canalinumab (Ilaris). They responded very well to repeated injections of Ilaris without side effects.

Conclusions: FCAS causes lifelong debilitating effects that restrict patients' daily activities. Ilaris is an FDA-approved treatment for this condition and that typically results in dramatic improvement in clinical and laboratory measures of inflammation, and is well tolerated. Our report is the first small case series of FCAS with keratitis that responded to Ilaris beautifully.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Antibodies, Monoclonal / therapeutic use
  • Antibodies, Monoclonal, Humanized
  • Cold Temperature / adverse effects
  • Cryopyrin-Associated Periodic Syndromes / complications*
  • Cryopyrin-Associated Periodic Syndromes / diagnosis
  • Cryopyrin-Associated Periodic Syndromes / drug therapy
  • Eye Pain / diagnosis
  • Eye Pain / drug therapy
  • Eye Pain / etiology
  • Female
  • Humans
  • Interleukin-1beta / antagonists & inhibitors
  • Keratitis / diagnosis
  • Keratitis / drug therapy
  • Keratitis / etiology*
  • Male
  • Middle Aged
  • Pedigree
  • Photophobia / diagnosis
  • Photophobia / drug therapy
  • Photophobia / etiology

Substances

  • Antibodies, Monoclonal
  • Antibodies, Monoclonal, Humanized
  • Interleukin-1beta
  • canakinumab