Episodes of recurrent fever are typical of autoinflammatory diseases such as PFAPA syndrome and should be suspected when the course is sudden and the temperature high

• Autoinflammatory diseases are rare and of genetic origin. They are characterised by repeated episodes of fever that come on suddenly, without any apparent cause. They go away on their own after a few days
• In Familial Mediterranean Fever, episodes of fever last 1-3 days. They have symptoms such as vomiting, diarrhoea, abdominal pain, skin rash, joint pain or swelling.
• In Mevalonate kinase deficiency, the fever episodes disappear within 5 days. They have symptoms such as skin rash, swelling of the lymph nodes in the neck, abdominal pain, vomiting, joint pain
• In Tumor Necrosis Tactor Receptor Defect Syndrome (TRAPS), fever lasts for at least a week and can last for more than 20 days
• In cryopyrinopathies the fever is capricious. It has symptoms such as hives, abdominal and chest pains, conjunctivitis, headaches and deafness in severe cases
• In recurrent fever with aphthrosis, adenitis and pharyngitis (PFAPA) the fever lasts about 5 days and recurs at regular intervals. PFAPA is not genetic and resolves spontaneously after a few years.
• Genetic autoinflammatory diseases last a lifetime. Since a few years there are new drugs that can control the symptoms and allow a perfectly normal life.

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What are autoinflammatory diseases?

Autoinflammatory diseases are a group of recently discovered rare diseases characterised by recurrent episodes of fever and inflammation.

It is as if a sudden fire broke out in the patient’s organism, with no apparent cause, which spontaneously dies down after a few days.

The fever is accompanied by symptoms in various parts of the body, such as abdominal and/or chest and/or muscle pain, patches on the skin, swelling of the joints.

During the acute episode, blood tests show a significant increase in values indicating inflammation (ESR, C-reactive protein, white blood cells, serum amyloid A), which return to normal after the episode.

Autoinflammatory diseases and recurrent fever:

The number of identifiable autoinflammatory diseases is continuously increasing due to advances in genetic research.

Those characterised by recurrent fever are the PFAPA syndrome (periodic fever with pharyngitis, adenitis and mouth ulcers), familial Mediterranean fever (FMF), which is mainly widespread in the Mediterranean basin (also South-Italy and Islands), the syndrome with hyper-IgD or mevalonate kinase defect (HIDS or MKD), the syndrome associated with tumour necrosis factor receptor defect (TRAPS), cryopyrinopathies comprising 3 different conditions of increasing severity: familial cold urticaria or FCAS, Muckle-Wells syndrome (MWS) and CINCA or NOMID.

Autoinflammatory diseases: what are the symptoms?

These diseases should be suspected when the child has recurrent febrile episodes that always repeat with the same characteristics.

The characteristic feature of the fever in all these diseases is that it occurs suddenly, even in the summer months, in full wellbeing, with an almost always very high body temperature (39-40 C°).

In some diseases the fever appears at regular intervals (so-called periodic, typical of PFAPA).

What are the causes of autoinflammatory diseases?

The responsible gene has been discovered for all the diseases mentioned above (Table 1), except for PFAPA, the cause of which remains unknown.

Genetically determined autoinflammatory diseases are caused by mutations in genes involved in the initiation and control of the inflammatory response.

How is the diagnosis made?

Diagnosis requires an adequate period of clinical observation (at least 6 months) during which time parents should keep a diary of febrile episodes in which they record the cadence, intensity and duration of the episodes, associated signs and symptoms and the treatment administered.

Diagnostic confirmation is obtained by genetic analysis of the genes responsible.

These are special analyses that must be carried out in facilities with experience in these diseases.

How are these diseases treated?

Although they are genetic diseases, i.e. lifelong, drugs have been available for a few years now that can control the symptoms and allow sufferers to live perfectly normal lives.

These are new biological drugs that work by blocking inflammation molecules produced in excess due to genetic mutations.

PFAPA is not genetic, and therefore resolves spontaneously after a few years.

In resistant and prolonged cases, tonsillectomy may be considered.

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Bambino Gesù