Tumor Necrosis Factor Receptor Associated Periodic Syndrome: Symptoms, Treatment

Overview

Tumor necrosis factor receptor associated periodic syndrome (TRAPS) is a rare genetic disease that may cause episodes of recurrent fever. Other signs associated with the disorder involve chills and severe muscle pain. Formerly, TRAPS is known as Familial Hibernian fever.

TRAPS usually occurs before age of 4 years. It is estimated that only one in every million people develop TRAPS. It is the second most common inherited recurrent fever syndrome, following a similar condition called familial Mediterranean fever. Europeans are more likely to be affected, but people from other ethnic groups would get the condition too. More than 1,000 people worldwide have been diagnosed with TRAPS.

Causes

TRAPS is a hereditary disease, indicating that genetic mutation is the main cause of TRAPS. This particular gene is called TNFRSF1A. About 70% mutations of the gene have been linked to the condition.

TNFRSF1A provides instructions for making a protein called tumor necrosis factor receptor, which is involved in the inflammatory response. If the child gets the mutated gene from one or both of his or her parents, the innate immune system would be activated to protect the body, causing inflammation.

Other factors, such as infection, trauma, strenuous exercise or stress, can also be the trigger of episodes of the disease. Children in their infancy or early childhood are at greater risk to develop TRAPS.

Symptoms

The specific symptoms associated with TRAPS vary from one person to another. Generally, TRAPS presents with these signs and symptoms:

  • Persistent and high-grade fever, typically lasting about 3 weeks
  • Chest pain
  • Abdominal pain
  • Muscle and joint pain
  • Chills
  • Headaches
  • Stiffness and tightness of the muscle
  • Nausea, vomiting, diarrhea or constipation
  • Red and swollen eyes.
  • A red and painful rash that moves from the torso to the arms and legs.

Diagnosis

The diagnosis of TRAPS is mainly based on clinical evaluation, physical examination and family medical history. During the physical exam, the doctor will ask and check carefully for typical signs and symptoms of the disease, like long lasting fever episodes and skin rashes.

Blood tests can help discover inflammation in the body. A diagnosis of TRAPS is usually confirmed by molecular genetic testing, which can identify mutations in the TNFRSF1A gene. If your family members have TRAPS, genetic counseling is strongly recommended for you.

Treatment

There is no cure for TRAPS. Treatment plans for the disorder focus on reducing symptoms and preventing future attacks. Medications are the most helpful methods to treat TRAPS. They include:

  • High doses of corticosteroids to reduce of the severity of this condition
  • Etanercept (Enbrel) to block the tumor necrosis factor, which causes inflammation
  • Anakinra (Kineret) and canakinumab (Ilaris) to block interleukin-1, an important protein involved in inflammation
  • Tocilizumab (Actemra) to help reduce inflammation


Keyword: tumor necrosis factor receptor associated periodic syndrome (TRAPS).

* The Content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition.