Hyperimmunoglobulin D Syndrome: All You Need to Know

Medically Reviewed By Nancy Carteron, M.D., FACR
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Hyperimmunoglobulin D syndrome (HIDS) is a rare condition that causes inflammation in the body. This can cause recurrent episodes of pain, headaches, and swelling. This article explains what HIDS is, including its symptoms, causes, and risk factors. It also discusses the diagnostic process for HIDS, as well as treatment, outlook, and self-care for the condition.

What is hyperimmunoglobulin D syndrome?

An adult feels the forehead of a toddler and reads a thermometer's temperature.
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HIDS is also known as:

  • “hyper-IgD syndrome”
  • “hyperimmunoglobulinemia D”
  • “periodic fever syndome”

It is a rare condition caused by genetic changes. It’s a type of the metabolic disorder known as “mevalonate kinase deficiency,” which is an auto-inflammatory condition.

HIDS is known as an auto-inflammatory disorder because it’s caused by the immune system triggering episodes of inflammation within the body. These episodes or symptom flare-ups can last for several days, often up to 6 days.

The frequency of HIDS episodes also varies from person to person, but they can occur from time to time throughout life. Sometimes the episodes start on their own, and other times there may be an obvious trigger.

Symptoms

Symptoms can vary from person to person. They may also range from mild to severe, depending on the person. Symptoms typically appear for the first time during infancy, although they can start later.

HIDS episodes may occur in sporadic episodes throughout a person’s life.

Common symptoms include:

Additional symptoms may occur, although they may be less common. Uncommon symptoms of HIDS include:

  • red, purple, or discolored skin spots
  • discoloration of the hands or feet
  • bleeding in the digestive tract
  • intestinal blockage
  • recurring infections
  • seizures
  • growth or developmental delay

Read more about blood in stool and symptoms of gastrointestinal bleeding.

Causes and triggering factors

HIDS is a genetic condition, meaning it occurs when certain genes and their proteins do not function properly. HIDS is due to a difference in the MVK gene. This difference can be inherited, so it can be passed down from biological parents to a child.

The MVK genetic differences that cause HIDS follow an autosomal recessive inheritance pattern. This means that both biological parents must be carriers of the genetic difference to pass it on. If this is true, there is a 1 in 4 chance that a child will have the condition.

The MVK gene is responsible for producing cholesterol. Differences in the MVK gene’s function can lead to a lack of cholesterol, which may cause the body to respond by producing more proteins known as cytokines. These proteins coordinate immune function. However, high levels of cytokines can cause overstimulation of the immune system, resulting in inflammation.

People with HIDS may also have elevated levels of immunoglobulin in their blood. Immunoglobulin works with the immune system to defend the body against pathogens or foreign substances. However, high levels may further contribute to inflammation.

Triggers

HIDS flare-ups can sometimes start spontaneously, or without an obvious trigger.

Other times, certain factors may trigger an episode. These triggering factors can include:

  • infection or illness
  • vaccination
  • emotional stress
  • physical stress
  • minor injury

Risk factors

Clinicians believe that HIDS most commonly occurs in people with Northern European heritage, particularly those of Dutch or French heritage. However, it can affect people with many different heritages.

It may affect people assigned female at birth and people assigned male at birth equally.

However, the condition’s exact frequency is unknown, as there is a chance that the disorder is undiagnosed or misdiagnosed in many people.

When to contact a doctor

If you or anyone you care for are experiencing any symptoms of HIDS, it’s important to contact a doctor.

If you already have a HIDS diagnosis but notice symptoms that are new, persistent, or interfering with your quality of life, contact your doctor. They can provide advice and also help you review your treatment plan.

Early diagnosis and treatment can help:

  • manage the symptoms of HIDS
  • improve quality of life
  • reduce the risk of complications

Prepare for your appointment with the autoinflammatory disease appointments guide.

Diagnosis

To diagnose HIDS, a doctor will ask about your symptoms, medical history, and family medical history. They may also perform a physical exam of any visible symptoms, such as rash.

Your doctor may then request further tests to identify HIDS or rule out other conditions. These tests may include blood tests to measure the amount of immunoglobulin D and A in the blood.

If your results show blood immunoglobulin D levels higher than 100 units per liter, this could indicate HIDS.

Genetic testing can also be an option, but it can sometimes be inconclusive.

Treatment

There is currently no cure for HIDS and mevalonate kinase deficiency, but treatments can help manage symptoms and reduce the risk of complications. 

Instead, treatment for HIDS focuses on both preventing episodes and alleviating symptoms if episodes do occur.

Preventive treatment for HIDS can include taking medications, such as anakinra. Doctors may also prescribe canakinumab for frequent episodes. Both medications can block the inflammatory activity of cytokines and reduce symptoms such as fever. However, further research is necessary to confirm their safety and effectiveness for HIDS.

Some people only need to take these medications on-demand, meaning when they suspect an episode may occur. Doctors may advise others to use the medication as daily prevention.

Additional medications that may have potential for treating HIDS include:

  • corticosteroids, such as prednisone
  • tocilizumab
  • nonsteroidal anti-inflammatory drugs, such as ibuprofen and naproxen

Self-care

Self-care approaches for HIDS can support your health, help avoid episode triggers, and reduce the risk of complications.

Some self-care steps include:

  • avoiding direct contact with people who have an infection
  • learning how to avoid other known triggers, such as learning how to manage stress
  • washing your hands regularly and properly with soap and water
  • staying hydrated
  • taking medications following your doctor’s instructions
  • contacting your doctor if you notice any new or changing symptoms

Individuals with HIDS can also find support through online resources and support groups. Ask your doctor or medical team about local resources for those with chronic or autoinflammatory conditions.

Learn more about how to avoid getting sick.

Outlook 

HIDS is a long-term condition. However, it is typically not life threatening. A 2016 literature review suggests that people with mevalonate kinase deficiency generally have a standard life expectancy.

In some cases, severe cases of mevalonate kinase deficiency can cause life threatening symptoms, such as impaired organ function. However, effective treatment and monitoring can help reduce the risk of complications and support your health during and after HIDS flare-ups.

Contact your doctor for individualized advice about what you can expect from your condition.

Summary

HIDS is a rare autoinflammatory condition that occurs due to inherited differences in the MVK gene. Symptoms typically start in infancy but can also appear later. 

The inflammation HIDS causes can produce symptoms, such as muscle pain, stomach problems, and rash. These episodes may last several days and recur over a person’s lifetime.

Treatment can help manage the symptoms and support your health. Treatment options include prescription medication and over-the-counter (OTC) pain relief.

Contact your doctor for more advice about the symptoms and treatment of HIDS.

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Medical Reviewer: Nancy Carteron, M.D., FACR
Last Review Date: 2022 Dec 7
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