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Periodic Fevers or Autoinflammatory Syndromes

These syndromes are rare and have been reported from India.

They present with a spectrum of features, characterised by fever and other features such as rash, joint pain or arthritis, abdominal pain, mouth ulcers, red eyes and neurological involvement. For some conditions, if untreated, there is an increased risk of amyloidosis which is often fatal. The approach to a child with persistent fever is available. The periodic fever syndromes are a spectrum of conditions and with advances in understanding of the genetics and pathways of inflammation, more treatment options are becoming available.  Some of the periodic syndromes include; 

  • Familial Mediterranean fever
  • Hyperimmunoglobulinaemia D — also known as mevalonic kinase deficiency
  • Tumor necrosis factor receptor- associated periodic syndrome (TRAPS)
  • The cryopyrinopathies (Familial cold auto-inflammatory syndrome, Muckle – Wells syndrome, Chronic infantile neurologic cutaneous and articular syndrome (CINCA) and also known as neonatal - onset multi - system  inflammatory disease (NOMID)
  • Periodic fever with aphthous stomatitis, pharyngitis and adenitis (PFAPA)
  • Cyclic neutropenia

There can be overlapping clinical features between various disorders and even heterogeneity among patients even with the same genetic disorder, making diagnosis often challenging. The differential must include infection and malignancy and investigations for the child with fever can include extensive tests. Genetic testing is available for some conditions. 

A summary of the autoinflammatory diseases is useful to demonstrate the overlap between the spectrum of disease currently identified. It is likely that more will be identified. Treatment options include biological agents for some of these conditions (eg IL1 blockade in Cryopyrinopathies) with often dramatic improvement in the quality of life for children. 

The autoinflammatory alliance provides more information and resources for families.

Patients require long term specialist supervision. 

Chronic recurrent multifocal osteomyelitis (CRMO) presents similarly to bacterial osteomyelitis, but cultures are sterile. There are often multiple involved sites with recurring episodes with bone pain and sometimes with swelling. The most common affected areas are long bones (tibia), but ribs, clavicle, vertebrae or pelvis can be affected. Treatment is NSAIDS, pamidronate (biphosphonates) or immunosuppression. The cause of CRMO is unknown and it may be an auto-inflammatory disorder. The emergence of bony swelling, with or without pain, is always a concern for red flag conditions - malignancy and infection must be excluded and children will often need biopsy. 

The photograph below shows swollen knees in CINCA

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