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Autoinflammatory syndromes (AIS)

Síndromes autoinflamatòries

The autoinflammatory syndromes are a group of diseases that cause repeated and persistent inflammation in different parts of the body. 

 

Description

The autoinflammatory syndromes produce alterations in the innate immune system, the system of defences everybody has when they are born. 

Some of these diseases are caused by a genetic variant. This variant generates abnormal, continuous and uncontrolled inflammation in different parts of the body. Thanks to the advances made in genetics and immunology, a large number of autoinflammatory diseases have been identified in recent years.

 

The symptoms 

The symptoms tend to start in childhood or during adolescence. The main manifestation is frequent fevers. The fever disappears and then comes back a few days later. The fever is not caused by an infection and it does not abate with antibiotics. Depending on the genetic variant, it causes different symptoms on the skin or in the abdomen, joints, eyes or lungs. 

Latest research has shown that in some people, and depending on the variant, the fever is of unknown origin. 

Depending on whether there is a genetic cause, the autoinflammatory syndromes can be classified as:

● Non-hereditary syndromes with recurrent fever:
- Systemic juvenile idiopathic arthritis
- PFAPA syndrome 

● Hereditary syndromes with recurrent fever:
- Familial Mediterranean fever (FMF)
- Hyper-IgD Syndrome (HIDS)
- Tumour necrosis factor receptor-associated periodic syndrome (TRAPS)
- Cryopyrin-associated periodic syndrome (CAPS): familial cold autoinflammatory syndrome (FCAS), Muckle-Wells syndrome (MWS), CINCA syndrome 

● Systemic granulomatosis, a type of inflammation of the blood vessels:
- Blue syndrome
- Early onset sarcoidosis 

Autoinflammatory diseases associated with pyogenic lesions, with pus formation: 
- PAPA syndrome (sterile pyogenic arthritis, pyoderma gangrenosum and acne)
- Deficiency of interleukin-1 receptor antagonist (DIRA)
- Majeed syndrome
- Cherubism 

Autoinflammatory diseases associated with proteasome dysfunction: 
- CANDLE syndrome 

 Interferonopathy type 1:
- Aicardi-Goutières syndrome (AGS)
- Adenosine deaminase 2 deficiency (ADA2)
- Spondyloenchondrodysplasia with immune dysregulation (SPENCDI)
- STING-associated vasculopathy with onset in infancy (SAVI)
- USP18 deficiency
- X-linked reticulate pigmentary disorder 

● Antibody deficiency and immune disregulation associated with PLCG2 or phospholipase CG2 (PLAID)
● NLRC4-Related Macrophage Activation Syndrome 

  

Who is affected by the disease

All the autoinflammatory diseases are very rare, affecting less than 5 people in 10,000. Most of them start during childhood or adolescence. 

 

Diagnosis

Diagnosis is based on each patient's set of symptoms: Blood tests are important in diagnosing these diseases because they enable inflammation to be detected when present. These analyses are repeated when the patient no longer has symptoms to confirm that everything is back to normal.   

Molecular or genetic analysis allows the genetic variations that cause these illnesses to be detected and a diagnosis to be made. An analysis of the patient's family members is often made to diagnose them.

 

Typical tests 

Analyses and X-rays are done to see if the immune system has been altered by the inflammations.

  • Analytic controls: blood test, liver and kidney function analysis and reactant controls to detect the presence of inflammation. 
  • Genetic study to rule out other diseases and to detect genetic variations related to the autoinflammatory syndrome, even thoughthe result may be negative and the person is still suffering from the disease.
  • Image techniques to examine the affected organs (ultrasound, NMR, CT, etc.) 

 

Typical treatment 

Treatment depends on the type of disease. Familial Mediterranean fever is treated with colchicine. Initially, and if necessary, other cytokine inhibitor treatments such as IL - 1 will be considered.

Cytokine inhibitors are prescribed for other autoinflammatory diseases, such as IL-1 and tumour necrosis factor alpha.

The patient needs to be monitored by specialists, who will support them emotionally, preventing long-term complications and ensuring adherence to the treatment from the beginning given that this is a chronic disease and it is vital to take the medicine prescribed, do the daily recommended exercises and eat a healthy diet.

 

Related departments that treat these diseases

 

Management of paediatric and adult patient cases 93 489 30 00 (ext. 6330 or 4697)

More information at: eai@vhebron.net Citizens advice 93 489 34 15

 

Associations of patients with which the Autoinflammatory Diseases Unit collaborates

  • Autoinflammatory Syndrome Association of Patients affected by Criopirinopathy
  • Catalan Rheumatology League FEDER
  • Spanish Catalonia Familial Mediterranean Fever Association (FMF)
  • Spanish Familial Mediterranean Fever Association.

Hospital o serveis complementaris relacionats

Traumatology, Rehabilitation and Burns Hospital

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