Mevalonate Kinase Deficiency

Medically Reviewed by Dan Brennan, MD on March 12, 2023
Written by Stephanie Watson
5 min read

Mevalonate kinase deficiency (MKD) is a disease that runs in families. A problem with your immune system causes attacks of fever and symptoms like swollen glands, chills, and belly pain every few weeks.

Doctors call MKD an autoinflammatory disease because it causes a lot of inflammation in your body. It's not the same as an autoimmune disease like rheumatoid arthritis or lupus, where your immune system -- the body's defense against germs -- attacks your own body.

MKD is very rare and can take many years to diagnose.

The disease comes in two forms:

  • Hyper IgD syndrome (HIDS), which is the more common and milder type
  • Mevalonic aciduria (MVA), which is more severe

There's no cure, but treatments can help you manage MKD. Make sure you reach out to family and friends who can support you through the stress that sometimes goes along with living with this disease. Your doctor can also suggest support groups that can give you the emotional backing you need.

A mutation (change) in the mevalonate kinase (MVK) gene causes this disease. You need to inherit one copy of the faulty gene from each parent to have symptoms.

Most people who have only one copy of the gene are carriers. They don't have symptoms of the disease, but they can pass it down to their children.

The MVK gene carries instructions to make a protein called mevalonate kinase, which helps your body make cholesterol. You need cholesterol to make steroid hormones, which help your body grow, and bile acids, which break down fats.

When you don't have enough mevalonate kinase, the immune system makes too much of a protein that causes inflammation in your body. The less mevalonate kinase your body makes, the more severe your symptoms may be.

If you have MKD, certain triggers set off episodes of symptoms. Some common ones are:

It's also possible to have symptoms without any trigger.

MKD can look very different in each person and in each type of the disease. HIDS has milder symptoms than MVA.

The first attack usually happens before age 1. But some children don't have any symptoms until age 8 or later.

The main symptom is a fever that rises very quickly. If you have the HIDS type, you may get fevers once every 4 to 6 weeks.

Along with the fever, you'll have symptoms such as:

Each episode lasts 3 to 7 days. Once the attack ends, your symptoms should stop, but it might take longer for the joint pain and rash to go away.

If you have the MVA type, you'll also have episodes of fever, but they happen more often and are more severe than with the HIDS type. You'll have other symptoms like swollen glands and belly pain all the time, and not just when you have a fever.

Symptoms can be different in children. They often have more severe symptoms like a high fever and:

  • Seizures
  • Problems with balance and coordination
  • Weak muscles
  • Vision loss, and sometimes a blue color in the white part of their eye
  • Wide eyes, a large forehead, long eyelashes, and a triangle-shaped face
  • Slow growth and weight gain

MKD usually doesn't cause any long-term problems in adults. But rarely, people can have complications like these:

  • Buildup of protein that damages the kidneys or other organs (AA amyloidosis)
  • A joint that gets stuck in a straight or bent position (contractures)
  • Abnormal bands that make organs and tissues in the belly stick together (adhesions)
  • Infections

Treatments can help you prevent these and other problems from the disease.

MKD can take a few years to diagnose. It's not only very rare, but its symptoms are different in everyone. And it looks a lot like more common diseases such as infections or juvenile arthritis. You may need to see a doctor who specializes in MKD to get the right diagnosis.

Your doctor will ask about your health history and whether anyone in your family has MKD. You'll also have a physical exam. Based on your symptoms, you may need tests such as:

Blood and urine tests. Your doctor checks your blood and urine for chemicals or substances related to MKD. A blood test shows signs of inflammation if you have this disease. A urine test shows high levels of mevalonic acid.

Genetic test. Lab technicians check a sample of your blood or tissue to see if there are changes to the MKV gene. This test confirms that you have MKD.

It helps to write down a list of questions to bring with you to your doctor's appointment. Some questions you might want to ask are:

  • Could another disease be causing the symptoms?
  • What are my treatment options? Which do you recommend?
  • What side effects can treatment cause?
  • What can I do at home to ease symptoms?
  • Should I visit a genetic counselor?
  • What follow-up visits will I need, and how often will I need them?

The goal of treatment is to bring down inflammation in your body, ease symptoms, and help you feel better.

Treatments for MKD include:

NSAIDs. These common pain relievers include ibuprofen and naproxen.

Acetaminophen. This is another common over-the-counter drug that lowers fever and eases pain.

Steroids. Medicines like prednisone lower inflammation in your body.

Biologic drugs. These medications block proteins that cause inflammation, like interleukin-1 (IL-1) and tumor necrosis factor (TNF), to prevent or cut down the number of attacks you get. Anakinra (Kineret) and canakinumab (Ilaris) target IL-1. Etanercept (Enbrel) is a TNF-blocker. It helps to prevent attacks in people with severe MKD.

Follow the treatment your doctor recommends. Sometimes NSAIDs and other medicines that lower inflammation in your body can put you into a remission, which means you have few or no symptoms

One of the best ways to manage MKD is to avoid your triggers. Keep track of your stress and other things that cause symptoms and talk with your doctor about them.

How your disease acts depends on the type of MKD you have. With the HIDS type, episodes of fever and other symptoms will come and go throughout your life, but you may go months or even years at a time without symptoms. Usually symptoms get milder and happen less often as you get older.

The MVS type causes more severe symptoms that may not go away in between attacks. It also can cause more serious complications that need treatment.

No matter which type you have, you'll have regular follow-ups with your doctor to monitor your disease and make sure your treatments are working.

It's important to get support for a disease like MKD, which can be challenging when symptoms pop up when you least expect them.  Because MKD is so rare, your acquaintances may not understand what you're going through.

A support group can be a big help. You'll get to talk to other people in the U.S. and other countries who have similar diseases. Many of these groups meet online.

To find a support group, you can ask your doctor or a social worker. Or visit the Autoinflammatory Alliance website.

If your disease makes you feel anxious or depressed, talk to your doctor. They can recommend a mental health expert who can help you work through your problems.