Formerly known as Familial Hibernian fever, Tumor Necrosis Factor Receptor Associated Periodic Syndrome (TRAPS) is a rare, genetic disease that causes recurrent episodes of fever that typically last more than one week and are associated with chills and severe muscle pain in the torso and the arms.
Patients develop a red and painful rash that moves from the torso to the arms and legs. Abdominal pain with nausea, vomiting, and diarrhea are common, as are red, swollen eyes. Other important features include chest pain due to inflammation of the membrane surrounding the lungs or heart. In mild cases symptoms may resemble the
Periodic Fever, Aphthous Stomatitis, Pharyngitis, Cervical Adenitis (PFAPA) syndrome.
While TRAPS is a rare disease, since the gene defect was discovered more patients have been diagnosed. The disease affects both males and females, and usually starts before the age of ten years, but symptoms may start in late childhood or even in adulthood. The first cases were reported in patients from Irish-Scottish background; the disease has now been seen in almost all ethnic groups.
TRAPS is caused by a change (mutation) in a specific gene t in a protein called tumor necrosis factor receptor, which leads to an increase of the patient’s normal inflammatory response. Infection, trauma, strenuous exercise, or psychological stress may trigger episodes. It is inherited as an autosomal dominant disease – meaning if the abnormal gene is inherited from one parent, you can get the disease. That means that one of the parents may be ill with TRAPS, or that the gene defect/mutation developed in the sick child.
It usually takes a physician expert in this disease to make the diagnosis. A physician will suspect TRAPS based on the clinical features, the physical examination, and family medical history. Blood tests will show signs of inflammation during, and often even between, episodes. Genetic tests are necessary to confirm the diagnosis. The physician will probably also test for other types of periodic fever syndromes.
There is no cure for the disease. Non-specific anti-inflammatory agents - including steroids - help relieve symptoms, but long-term use of steroids can lead to serious side effects. Medications that block interleukin-1, an important protein involved in inflammation, are used for its treatment. These include
anakinra (Kineret) and canakinumab (Ilaris). Etanercept (Enbrel, a medicine used to treat arthritis), which blocks the tumor necrosis factor, has been shown to be an effective treatment in some patients, and can be used when the other medications are not effective or cause adverse side effects. In rare cases, medications that block interleukin-6, tocilizumab (Actemra) have also been helpful. Canakinumab has recently been labelled by the U.S. Food and Drug Administration (FDA) to treat this disease.
Patients with persistent, uncontrolled inflammation may develop a complication called amyloidosis. Amyloid is a protein that deposits in 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 in the kidneys. This is the main reason to continue life-long treatment, even when the child is feeling better. Therefore, it is necessary to regularly examine the urine of TRAPS patients for protein.
Patients with a severe type of TRAPS will suffer from long episodes with severe abdominal and muscle pain as well as side effects of medications, particularly steroids. Many patients will need psychological support or special support to treat the pain during attacks. However, for most, the disease can be controlled with medication, and affected individuals can lead relatively normal lives. New medications that target tumor necrosis factor and particularly interleukin-1 are effective in most patients and decrease the need to treat with steroids.
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TNF Receptor Associated Periodic Syndrome (TRAPS)
Updated December 2021 by the American College of Rheumatology Committee on Communications and Marketing. This information is provided for general education only.
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