About TRAPS

 

What is TRAPS?

TRAPS is an auto inflammatory disease causing an immune and autoimmune response. TRAPS is a genetic disease with an autosomal dominant (one gene is enough to result in having the disease) inheritance. That means that either on of the parents is ill with a variant of the disease or that the gene defect was newly formed in the child with the disease. Besides episodes of fever, other symptoms include abdominal pain, diarrhea, migratory (moves from one place to another) painful red skin rashes, muscle pain and swelling around the eye. The gene defect was only recently discovered. The former name of this syndrome was Familial Hibernian Fever.

How common is it?

The TRAPS gene was just recently discover in 1998 by Dr. Daniel Kastner at the NIH in Maryland. TRAPS is thought to be a rare disease with less than 100 confirmed cases, however, its true prevalence is currently unknown. It affects males and females equally and the onset seems to be during late childhood, or adulthood. The first cases were reported in patients from Irish Scottish ancestry; however, the disease has also been identified in other populations: French, Italians, Sephardic and Ashkenazi Jew, Armenians, Arabs and Kabylians from Maghreb. The seasons and climate have not been demonstrated to influence the course of the disease.

 

Is is contagious?

No, it is a genetic disease.

 

What causes TRAPS?

TRAPS is due to a gene defect in a protein called Tumor Necrosis Factor Receptor (TNFR), which leads to an increase of the patient's normal inflammatory response. The protein that causes inflammation, called tumor necrosis factor (TNF), overreacts, since the receptor (TNFR) that usually binds to the TNF is not present to control its activity. Infection, trauma of psychological stress may trigger episodes. However, not every person that has a gene defect will have the clinical sign of TRAPS.

What are the main symptoms?

The main symptoms are recurrent episodes of fever typically lasting two or three weeks, associated with chills and intense muscle pain involving the trunk and upper limbs. The typical rash is red and painful, representing underlying inflammation of the skin and muscle. The rash moves from one place to another on the body, usually from the arms and legs to the trunk. Most patients feel cramping muscle pain at the onset of attacks that gradually increases in strength and also moves from one part of the body to another. Abdominal pain with nausea and vomiting are common. Inflammation of the membrane covering the front of the eye (conjunctive), and/ or swelling around the eye is common. Other less common features include chest pain, due to inflammation of the pleura (the membrane surrounding the lungs), or the pericardium (the membrane surrounding the heart). Amyloidosis is the most severe late complication of TRAPS and often results in large amounts of proteins in the urine and kidney failure. The disease symptoms vary from person to person, as well as the length of episodes and the time between episodes. The reasons for these differences are based in part on differences in the specific gene defect.

Is the disease the same in every child?

TRAPS presentation varies from one patient to another in terms of the duration of each attack and the duration of symptom-free periods. The combination of the main symptoms is also variable. These differences may be explained, in part, by genetic factors.

How is it diagnosed?

An expert physician will suspect TRAPS based on the clinical symptoms identified, the physical examination and from taking a family medical history. Blood tests will show signs of inflammation during an episode. The diagnosis is confirmed only by genetic tests showing a genetic defect in the TNFR gene, the physician will probably test for other types of periodic fever syndromes.

What are the treatments?

There is still no proven definitive treatment to prevent or cure the disease. Non-specific anti-inflammatory agents, including steroid use, help to relieve symptoms, but long-term steroid use leads to serious side effects. Giving medicine that is similar to the TNF receptor called Enbrel (a medication used to treat juvenile idiopathic arthritis) has been shown to be an effective treatment in some patients when given at a the beginning of an attack or even as a preventative medicine.

How long should treatment last for?

The duration of treatment is limited to relieving acute symptoms, since no drug is effective for the prevention of fever attacks. Patients with TRAPS will have episode of symptoms throughout their life.

What is the long term prognosis (predicted outcome and course) of TRAPS?

The prognosis is very variable, the worst prognosis affects only the minority of patients and these patients develop secondary amyloidosis. The risk is difficult to determine, because it depends on both genetic and environmental factors. Amyloidosis is a severe complication and frequently leads to renal failure. At the present time no one knows if this complication can be avoided.

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