Hyper IgD syndrome (HIDS)

The HyperIgD syndrome is a very rare condition. Worldwide there are several hundred patients described with this disease. Most patients are found in Netherlands and France. Remarkably, to date only a few Belgian patients have been identified.

 

Signs and symptoms

HIDS is characterized by attacks of fever with an onset in early childhood. Typically, children have their first attack after their first vaccinations. An attack last on average 3-7 days. The attacks usually begins with malaise often accompanied by headaches. A few hours later spiking fever ensues. An attack is accompanied by cervical lymphadenopathy, abdominal pain and arthralgias. Some patients have a rash, diarrhea and vomiting. In between attacks the patient are asymptomatic.

 

Genetics

HIDS is caused by a mutation in the MVK-gene. This leads to a deficiency of the enzyme mevalonate kinase. It is a recessive disorder. This means that there must be mutations in both chromosomes before someone is sick. Despite intensive research efforts, it remains unknown how a decreased activity of mevalonate kinase leads to inflammation.

 

Diagnostics

The diagnosis can be confirmed by examination the MVK gene. Alternatively, a strong increase in urinary mevalonic acid is also diagnostic.

 

Treatment

Until recently there was no effective treatment for HIDS available. Some patients have less severe attacks when corticosteroids (MEDROL) are used early in the attack. Recent research shows that Anakinra  is effective in shortening the attack and in reducing the symptoms.