Fever Syndromes, Periodic / Autoinflammatory Diseases 4.25/5 (4)

Last updated: 28 / 12 / 20
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Periodic Fever Syndromes

Periodic, autoinflammatory fever syndromes often cause regular episodes of fever and to some extent pain, most often from childhood.

Definition

Auto-inflammatory diseases is suspected in children and adolescents with recurrent episodes of fever without infection being detected (Periodic Fever Syndromes). Except for fever, there are often various symptoms or a combination of the following: neck pain, abdominal area, joints and muscles, headaches, rashes and swollen lymph nodes. Sores in the mouth and mucous membranes, as well as fatigue are also common.

Blood tests show high inflammation tests such as CRP and Lowering Reaction (SR) in connection with fever.

Fever syndromes have common features with autoimmune connective tissue disorders og vasculitides Fordi immune system attacks his own tissue with rheumatic inflammation (inflammation) as a result.

Genetic cause

A major difference is that auto-inflammatory fever diseases are most often caused by one mutation (lasting change) in a single gene (Genetic material). One exception to this PFAPA (and Still's disease og systemic JIA) where multiple genes are involved. They are also separated primary immune immunodeficiency may be raised which causes frequent childhood infections. Auto-inflammatory diseases usually begin among young children.

Occurrence

All periodic fever syndromes / autoinflammatory diseases are defined as  rare diseases.

Immune system and disease mechanisms

An important part of the immune system develops as we grow and grow older and is called acquired immune system. This section can "remember" foreign proteins and other substances (antigen) that we have been in contact with and can fight them if necessary. Important actors are the white blood cells (especially the lymphocytes) that can destroy harmful substances.

We also have a native immune system (innate). This also works through white blood cells, but most in the form of granulocytes og monocytes.

  • The cause of the auto-inflammatory fever diseases is that congenital (innate) The immune system lacks braking mechanisms and thus overreacts
  • The reactions occur even if the body has never been in contact with foreign antigen (bacteria, viruses, etc.). It is known that many have genetic mutations (hereditary changes) in molecules that regulate this innate immune response, but much information about the disease mechanisms is still unknown.

Symptoms

Auto-inflammatory febrile diseases are characterized by debut in childhood, although Familiar Mediterranean Fever (FMF) og TRAPS can debut later.

Typically, the symptoms begin abruptly:

  • Episodes with severe rheumatic inflammation
  • The diseases (especially familial Mediterranean fever, FMF) may lead to AA-amyloidosis in many important organs (usually kidneys) if not treated. PFAPA is less harmful and disappears or becomes much better in adulthood

There are many autoinflammatory diseases. They may occur in adolescents and adults (see Familiar Mediterranean Fever (FMF) og TRAPS), but most commonly among young children:

  • Common age <5 years at onset
  • Not very hereditary
  • They can be divided into various diseases

Different fever history may make it easier to diagnose the individual diseases:

  • Blood tests
    • Decrease response (SR) and CRP increase in fever, mild leukocytosis (increased white blood cell count)
  • No infection

Symptoms and diagnoses

Diagnosis

  • Disease history
  • Symptoms
  • Genetic testing (not possible for all types)

Complication

AA-Amyloidosis (especially at FMF)

Debut at (small) children

Fever syndromes that may not be start among (young) adults (but most often among children)

  • TRAPS (Tumor-necrosis factor receptor-associated periodic syndrome)

    • Debut among children and a rare debut of (young) adults

  • Adult onset Cyclic neutropenia

    • An autoimmune disease that is related to cytotoxic (cell-harmful) lymphocytes, associated with clonal proliferation of CD56 + large granular lymphocytes. Treatment is immunosuppression. Reminds of cyclic neutropenia in children who, however, debute in the first year of life. Associated with LGL syndrome 

Some believe that Behcet's syndrome belongs to the autoinflammatory diseases, although the disease is most often classified among Systemic vasculitis.

More info on the various auto-inflammatory diseases (Periodic Fever Syndromes) on each diagnosis:

Literature

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