Which are the symptoms of TNF Receptor Associated Periodic Syndrome?

Symptoms of TNF Receptor Associated Periodic Syndrome (TRAPS)

TNF Receptor Associated Periodic Syndrome (TRAPS) is a rare genetic autoinflammatory disorder that is characterized by recurrent episodes of fever and inflammation. It is caused by mutations in the TNFRSF1A gene, which encodes the tumor necrosis factor receptor 1 (TNFR1) protein. TRAPS typically presents in childhood or early adulthood and can vary in severity and duration.

Fever: One of the hallmark symptoms of TRAPS is recurrent episodes of fever. These fevers can be high-grade and last for several days to weeks. The fever is often accompanied by other symptoms of inflammation.

Abdominal Pain: Many individuals with TRAPS experience abdominal pain during episodes. The pain can be severe and may be associated with nausea, vomiting, and diarrhea. The abdominal pain can mimic other conditions such as appendicitis or inflammatory bowel disease.

Rash: A characteristic rash called erythema migrans can occur in TRAPS. This rash is typically migratory, meaning it moves from one area of the body to another. It is often red and raised and can be itchy or painful.

Joint Pain and Swelling: Joint involvement is common in TRAPS and can manifest as pain, swelling, and stiffness. The joints most commonly affected are the large joints such as the knees, ankles, and wrists. The joint symptoms can be similar to those seen in other inflammatory conditions like rheumatoid arthritis.

Muscle Pain: Some individuals with TRAPS may experience muscle pain during episodes. This pain can be generalized or localized to specific muscle groups. It may be associated with weakness or difficulty in performing daily activities.

Eye Symptoms: Eye involvement is another characteristic feature of TRAPS. It can present as conjunctivitis (inflammation of the conjunctiva), uveitis (inflammation of the uvea), or periorbital edema (swelling around the eyes). Eye symptoms can be recurrent and may lead to long-term complications if not properly managed.

Chest Pain: Chest pain can occur in TRAPS and may be mistaken for cardiac-related issues. The pain can be sharp or dull and may worsen with deep breathing or movement. It is important to rule out other causes of chest pain in individuals with TRAPS.

Fatigue: Fatigue is a common symptom in TRAPS and can significantly impact the quality of life. It may be present during episodes of inflammation and can persist between episodes.

Other Symptoms: In addition to the above symptoms, individuals with TRAPS may experience headache, swollen lymph nodes, skin lesions, and systemic symptoms such as malaise and weight loss.

It is important to note that the symptoms of TRAPS can vary widely between individuals. Some individuals may have mild and infrequent episodes, while others may experience more severe and frequent symptoms. Prompt diagnosis and appropriate management are crucial in improving outcomes and preventing long-term complications.