SNP Shot: Genomic Insights

Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is a disorder marked by recurring fever episodes. These fevers are characteristically long-lasting, typically around 3 weeks, but can range from just a few days to several months. The frequency of these episodes differs significantly among those affected; some experience fevers as often as every 6 weeks, while others may only have them every few years. Some individuals may even go years without a fever episode. While fever episodes often arise without a clear cause, they can sometimes be triggered by factors like minor injuries, infections, stress, physical activity, or hormonal fluctuations.

Along with fever, individuals with TRAPS may experience other symptoms during these episodes. These may include abdominal pain, muscle pain, and a spreading skin rash, typically on the arms and legs. Other possible symptoms include swelling around the eyes (periorbital edema), joint pain, and inflammation affecting various parts of the body, such as the eyes, heart muscle, certain joints, throat, or mucous membranes (like those lining the mouth and digestive system). In some instances, individuals with TRAPS can develop amyloidosis, a condition where an abnormal protein called amyloid builds up in the kidneys, potentially leading to kidney failure. Approximately 15 to 20 percent of people with TRAPS will develop amyloidosis, usually in middle age.

The fever episodes characteristic of TRAPS can start at any point in life, from infancy through adulthood, although most individuals experience their first episode during childhood.

Inheritance:

TRAPS is inherited in an autosomal dominant manner. This means that only one copy of the mutated gene in each cell is enough to cause the disorder. However, some individuals who inherit the altered gene may never show any signs or symptoms of TRAPS, a phenomenon known as reduced penetrance. The reasons why some individuals with the mutated gene develop the disease while others do not are currently unknown. In most cases, the mutation is inherited from one parent who also has TRAPS. In other instances, the mutation arises spontaneously (a new mutation) in the affected individual, even if there is no family history of the disorder.