(CAPS, cryopyrinopathies)

Heterogeneous group of hereditary disorders of the inflammatory reaction of varying severity and characterized by

recurrent episodes of inflammatory syndromes including fever and arthralgias.

It includes:

• familial Mediterranean fever ("armenian disease"): common in populations originating from the Mediterranean countries. Autosomal recessive transmission of a mutation in the FMF (or CLVS) gene (short arm of chromosome 16), coding for  marenostrin/pyrin expressed in granulocytes, monocytes, and eosinophils. Onset before the age of 5 years, 1 to 4 days long crises; frequent signs of serous inflammation at the level of the peritoneum, pleura, testicle, pericardium; frequent renal amyloidosis. Prophylaxis: colchicine.
• hereditary periodic fever.  Autosomal dominant transmission. Episodes lasting 1 to 2 weeks; abdominal and thoracic pain, painful pseudocellulitis, AA amyloidosis. Treatment: corticosteroids.
• periodic fever with hyperimmunoglobulinemia D.  Autosomal recessive transmission of with variable penetrance of mutations in the MVK gene coding for mevalonate kinase on chromosome 12. The disease starts in the first year of life. Episodes of high fever during 7 days on average,  every 4 to 8 weeks. Associated signs: chills, abdominal pain, vomiting, diarrhea, headache, arthralgias, skin rashes (macules, papules, sometimes petechiae and aphthae). Presence of painful cervical adenopathies, often, with hepatosplenomegaly. Increased level of serum IgD above 100 IU/mL (this is sometimes absent before the age of 3 years). Accumulation of mevalonic acid in urine .
• Muckle Wells syndrome. Autosomal dominant transmission:; onset in childhood; urticaria, sensorineural deafness, and renal amyloidosis.
• intermittent fever secondary to mutations in the type 1 receptor of has the tumour necrosis factor (TNF) also called TRAPS (TNF Receptor Associated Periodic Syndrome). Hereditary periodic fever characterized by paroxysmal recurrent attacks of fever and generalized pain, every 5 to 6 weeks, which may evolve into amyloidosis and kidney failure.  Autosomal dominant transmission of a mutation of the  TNFSFR1A gene (chromosome 12), coding for TNF.
• Marshal syndrome, also referred to as PAPA (Pyogenic sterile Arthritis, Pyoderma, Acne) or PFAPA (Periodic Fever, Aphthous stomatitis, Pharyngitis and Adenitis);
• CINCA syndrome, acronym for Chronic Infantile Neurologic Cutaneous and Articular syndrome

also called NOMID for Neonatal - Onset - Multi-system - Inflammatory - Disease

• severe congenital neutropenia also called Kostman syndrome in case of autosomal recessive form 
• cyclic neutropenia

Anesthetic implications: 

maintain the usual treatment. In case ofcolchicine treatment: hematologic control. In case of steroids treatment: perioperative supplementation. Problem of differential diagnosis between attacks of periodic fever and a surgical infection and/or complication.

References : 

• Lauro CF, Goldbasch-Mansky R, Schmidt M, Quezado ZMN. 
  The anesthetic management of children with neonatal-onset multi-system inflammatory disease.
  Anesth Analg 2007; 105: 351-7.
• Höhne C,  Burkhardt U. 
  Anesthesia in an infant with CINCA syndrome. 
  Pediatr Anesth 2008; 18: 575-7.

Updated: October 2018