WHAT IS HIDS?
Hyperimmunoglobulin D Syndrome (HIDS) is a genetic syndrome that results in episodes of high fever with skin rash, swollen lymph nodes in the neck, abdominal pain, joint pain and swelling, vomiting and diarrhea. Most patients have high amounts of proteins called immunoglobulins, which normally are used by the immune system to fight infections. The most severe form of this disease starts at birth and is called mevalonic aciduria. These patients also have severe neurologic (nervous system) disease and poor growth.
Fevers are the main symptom and last 3-7 days and may recur every 2-12 weeks. The attacks begin suddenly, often with shaking chills. Headache, abdominal pain, loss of appetite and flu-like symptoms are common. Most patients experience nausea, vomiting or diarrhea. Skin rashes on all parts of the body—Including the hands and feet, painful sores in the mouth and joint pain—all occur. One of the most striking features is swelling of the lymph nodes in the neck or other parts of the body.
FAST FACTS
- HIDS is a genetic disease caused by an abnormality in a protein called mevalonate kinase (MVK).
- Major symptoms include recurrent fever from infancy with rash, abdominal pain, diarrhea and swelling of lymph glands.
- There is no proven treatment, but the disease tends to ease over time and often resolves by adulthood.
WHO GETS IT?
HIDS is a very rare disease. The disease is mostly found in Western Europe, especially in the Netherlands and France, but has been described in all ethnic groups. Boys and girls are affected equally. Symptoms usually start in early childhood, most commonly in the first year of life.
WHAT CAUSES IT?
HIDS is a genetic disease. The gene defect results in abnormalities in a protein called MVK. MVK is a protein that facilitates a chemical reaction in the body (an enzyme) involved in the process of making cholesterol.
It is not known why the gene defect causes fever. Episodes can be triggered by infection, stress, trauma, surgery and vaccination or can occur without any obvious trigger.
HIDS is inherited in an autosomal recessive manner, meaning that the child receives two mutated genes, one from the mother and the other from the father. The parents are then called carriers, and may not be ill at all. Often, someone in the extended family has the disease. If one child has the disease and the parents are carriers, there is a 25% chance another child will get HIDS.
HOW IS IT DIAGNOSED?
It usually takes a physician expert in this disease to diagnose HIDS. Blood tests during an episode usually show signs of inflammation. Most (but not all) have elevated levels of immunoglobulin D. During episodes, a urine test for organic acid will show high levels of mevalonic acid. The diagnosis will be confirmed by a genetic test finding the defect in the MVK gene or by showing low levels of MVK activity in blood cells.
HOW IS IT TREATED?
HIDS cannot be cured. During an episode, nonsteroidal anti-inflammatory drugs (like ibuprofen and naproxen) or steroids may help. No effective treatments to decrease the frequency of attacks has been proven to work, but some patients respond to biologic treatments that work against proteins affecting the immune system, particularly etanercept (which blocks a protein called tumor-necrosis factor) or anakinra (which blocks a protein called interleukin-1). Researchers continue to search for effective treatments.
LIVING WITH HIDS
HIDS is a lifelong disorder, but episodes usually get milder and less frequent over time, often stopping later in life. Children with HIDS may miss many days of school due to attacks. It is important to stress that the fever of HIDS is not contagious.
Patients rarely may develop a complication of inflammation called amyloidosis. Amyloid is a protein that deposits in certain organs in children with chronic inflammatory disease. The most common organ involved is the kidney, but amyloid can deposit in the intestines, skin and heart. Eventually, amyloid causes a loss of function, especially of the kidneys.
POINTS TO REMEMBER
- HIDS is a rare genetic disease resulting in frequent attacks, recurrent fever and other symptoms from infancy.
- While there are no proven treatments to date, the long-term outcome is usually good.
TO FIND A RHEUMATOLOGIST
For a listing of rheumatologists in your area, click here. Learn more about rheumatologists and rheumatology health professionals.
FOR MORE INFORMATION
The American College of Rheumatology has compiled this list to give you a starting point for your own additional research. The ACR does not endorse or maintain these websites, and is not responsible for any information or claims provided on them. It is always best to talk with your rheumatologist for more information and before making any decisions about your care.
Created April 2011
Written by Phil Hashkes, MD, Hebrew University, Jerusalem, and reviewed by the American College of Rheumatology Special Committee on Pediatric Rheumatology.
This patient fact sheet is provided for general education only. Individuals should consult a qualified health care provider for professional medical advice, diagnoses and treatment of a medical or health condition.
© 2011 American College of Rheumatology
