Mevalonate Kinase Deficiency (MKD)/ Hyper IgD Syndrome (HIDS)

Mevalonate Kinase Deficiency (MKD) / Hyper IgD Syndrome (HIDS) is a rare genetic autoinflammatory disease. Recurrent episodes of fever, abdominal pain, and skin rash characterize it.

What is MKD/HIDS?

MKD/HIDS is an autoinflammatory condition that causes recurrent episodes, or attacks, of fever, skin rash, and abdominal pain. These attacks can last from a few days to a few weeks. The frequency and severity of these attacks can vary significantly from person to person.

Causes of MKD/HIDS

MKD/HIDS is caused by mutations in the MVK gene, which provides instructions for making an enzyme called mevalonate kinase. This enzyme is crucial in producing specific molecules necessary for various cellular functions. Mutations in the MVK gene have an abnormal enzyme, leading to uncontrolled inflammation and the symptoms of MKD/HIDS .

Symptoms of MKD/HIDS

The most common symptoms of HIDS/MKD include:

  • Recurrent fevers
  • Abdominal pain
  • Skin rash
  • Joint pain
  • Swollen lymph nodes
  • Symptoms triggered by immunization

Symptoms usually begin in infancy or early childhood, but in some cases, they may not appear until later in life.

Diagnosis of MKD/HIDS

Diagnosing MKD/HIDS can be challenging due to the variability in symptoms and their episodic nature. Diagnosis is typically based on clinical signs, can be helped by measuring a specific biomarker in urine, and may be confirmed by genetic testing to identify mutations in the MVK gene.

Treatment of MKD/HIDS

While there is currently no cure for MKD/HIDS, treatments are available to help manage symptoms and prevent complications. Treatment often involves medications that reduce inflammation and suppress the immune system.

Living with MKD/HIDS

Living with MKD/HIDS can be challenging, but with the proper treatment and support, most individuals with this disease can lead healthy and productive lives. Regular follow-ups with healthcare providers, a healthy lifestyle, and a strong support network can significantly improve the quality of life for individuals with MKD/HIDS.

Remember that you are not alone if you or a loved one has been diagnosed with MKD/HIDS. Join our Community to connect with others who understand what you’re going through.

Tisztelt Szülő/ Háziorvos Kolléga!

Ha Ön úgy gondolja, hogy visszatérő lázas gyermekénél/betegénél autoinflammatórikus betegség merül fel, itt tud ambuláns kivizsgálásra időpontot kérni:

Előjegyzés

Dear Parent or Health Care Professional,

If you suspect that a child or patient with recurrent fever may have an autoinflammatory disease, you can schedule an outpatient examination here:

Appointment