Individual symptoms can vary significantly from person to person. The length of the characteristic episodes can also vary. Extending from a few days to a week to more than a month. The onset is mainly in infancy or childhood. TRAPS is caused by mutations in the tumor necrosis factor receptor-1 (TNFRSF1A) gene, which encodes the 55-kDa receptor for TNF. The particular symptoms associated with TRAPS vary from one person to another. Almost all affected suffer from recurrent bouts of high grade fever, malaise and inflammation. However, some people can simply get a fever or just fever and stomach problems. The length of episodes varies, although they usually span more than a week. Some people can tolerate prolonged inflammation.
Characteristic episodes of fever may also be accompanied by chills, stomach discomfort, headache, joint pain (arthralgia), chest pain, muscle pain (myalgia), stiffness, and tightness. Abdominal symptoms may be accompanied by nausea, vomiting, diarrhea or constipation. Chest discomfort is caused by inflammation of the thin covering (pleura) that lines the lungs (pleurisy) (pleurisy). In certain circumstances, muscle soreness is severe.
Muscle symptoms may be associated with skin lesions, especially tender, warm, purplish-red (erythematous), raised plaques. Skin lesions form during an episode of fever. Progress from proximal to distal areas of the body. Skin lesions can appear between a few days. Persist for three weeks. Skin lesions associated with TRAPS generally begin as small lumps (spots or papules) that spread and accumulate to produce more extensive lesions (plaques) (plaques).
In muscle disorders (myalgia), the underlying skin lesion also migrates (migrates) following the skin lesion. When muscle pain worsens, various joints and muscle groups become involved. Although joint symptoms persist, arthritis rarely develops.
Individuals with TRAPS may also develop severe inflammation of the delicate membranes lining the inside of the eyelids (conjunctivitis) (conjunctivitis). This may occur with or without swelling of the eyelids (periorbital edema) (periorbital edema). Additional symptoms documented in men with TRAPS include testicular pain and a greater risk of hernia than in the general population. An inguinal hernia is when a piece of intestine protrudes through a tear in the lower abdominal wall. A significant consequence that occurs in about 10-15 percent of TRAPS patients is amyloidosis, a condition in which specialized proteins called amyloids accumulate inappropriately in many ties and organs of the body. For example, amyloid can accumulate in the kidneys, affecting kidney function and potentially causing life-threatening problems such as kidney failure. Although the kidneys are most commonly affected, several other organs may be involved. TRAPS may occur due to a spontaneous genetic change (d. h. of a novel mutation) arise spontaneously or be inherited as an autosomal dominant trait (a transformation received from either the father or the mother) (a transformation received from either the father or the mother). Father or Mother).
Dominant genetic diseases occur when only a single copy of a defective gene is sufficient to cause the disease. The faulty gene may be inherited from one of the parents or result from a new mutation (gene change) in the affected person. The likelihood of passing the defective gene from the affected parent to the child is 50 percent for each pregnancy. The risk is the same for men and women.
How to treat TRAPS?
Although there is no established therapy for TRAPS, nonsteroidal anti-inflammatory drugs (NSAIDs) can be used to relieve fever symptoms, and corticosteroids can be administered to reduce the severity of symptoms in most patients. Tumor necrosis factor receptor-associated periodic syndrome (TRAPS) is an inherited disease characterized by recurrent episodes of fever. Episodes can occur at any age, but most commonly begin in early childhood. Fever usually lasts about three weeks, but can last from a few days to a few months. The period between episodes can be weeks to years. Attacks usually occur spontaneously but are occasionally triggered by multiple factors (e.g. B. Injury, illness, or stress) (z. B. injury, infection or anxiety) causes. Swelling around the eyes;. Inflammation in different parts of the body. Some people acquire amyloidosis. TRAPS is caused by mutations in the TNFRSF1A gene. Automatically becomes inherited dominant. Treatment may include systemic corticosteroids at the beginning of an episode to minimize its severity and duration. This table shows symptoms that may occur in individuals with this disorder. In most disorders, symptoms vary from person to person. People with the same condition may not have all of the symptoms listed. This information comes from the Human Phenotype Ontology (HPO) database. The HPO collects information on symptoms that have been documented in the medical literature. The HPO is updated regularly. Use the HPO ID to get additional detailed information about a symptom.
Are TRAPS autoimmune?
TRAPS is an autoinflammatory disease that causes certain white blood cells that normally fight infections to attack and occasionally damage healthy cells. It occurs when a defective gene causes your body to ame you have a disease when in fact you do not. The TNFRSF1A gene contains instructions to make (encode) a specific protein known as tumor necrosis factor receptor-1 (TNFR1, p55, CD120a) (TNFR1, p55, CD120a). TNFR1 is found on the surface of most body cells. Functions as a receptor for tumor necrosis factor (TNF) (TNF). TNF is a protein that helps the body fight infections and foreign toxins. Specifically, TNF increases the body's inflammatory response to infection. TNFR1 can receive and transmit signals that trigger an inflammatory response in the body. These signals can be turned off when the TNF receptor detaches from the cell surface (a natural process called "shedding"). The loose receptors suck up excess TNF before it reaches the cells, preventing signal transduction for the body's inflammatory response. The TNFRSF1A gene is mutated, and as a result, abnormal TNFR1 is produced, unable to perform its regular tasks – unregulated TNF signaling leads to an overly aggressive body response. The exact mechanism by which defective TNFR1 causes TRAPS is currently under investigation.
How are traps discovered?
Testing for de novo or dominantly inherited heterozygous TNFRSF1A gene mutations can generally make a molecular genetic diagnosis of TRAPS. These two exons, which encode the extracellular domain, are where all TRAPS variations are grouped together. In 1982, a large Irish family was diagnosed with TRAPS, which was first diagnosed as familial Hibernian fever. TNFRSF1A was later renamed when several different ethnic groups were found to have mutations in the same gene. TRAPS has been found in people of a wide range of ethnic backgrounds; however, the majority of patients were originally from Scotland and Ireland. Up to a few hundred cases have been documented in the medical literature on the disease. The rare disorder TRAPS generally goes untreated or is misdiagnosed, making it impossible to estimate the true prevalence of the disorder in the general population. A malfunction of the innate immune system is the cause of autoinflammatory syndromes, a group of diseases characterized by recurrent inflammation. Chronic and recurrent episodes of systemic inflammation are common in patients with autoinflammatory diseases mediated by cells of innate immunity. Inflammation can develop as early as the neonatal period. For example, recurrent fever and various forms of skin rashes are among the symptoms that may be present, as well as abdominal discomfort and joint pain and bone pain. PSTPIP1/CD2BP1 gene mutations on chromosome 15q are associated with a rare autosomal dominant autoinflammatory disease called PAPA (pyogenic arthritis, pyoderma gangraenosum, and acne). Painful relapses of recurrent sterile arthritis with varying degrees of skin involvement, which may present as ulcerations, pyoderma gangraenosum, or severe cystic acne, often begin in early adolescence and last for months or years.