TNFRSF11A-associated hereditary fever disease (TRAPS11)

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Acronym:
TRAPS11

SAID group:
TNF-associated autoinflammatory diseases, Protein Folding

Gene:
TNFRSF11A

Inheritance:
Autosomal dominant.

Ethnicity:
Not noted.

Frequency:
Unknown-rare

Timing of symptoms:
Flares every month that last from 8 days to 3-5 weeks. Some note triggers for flares, such as cold temperatures or pregnancy. [101]

Age of onset:
First flares of symptoms in infancy or childhood. Symptoms are often similar to TRAPS. [101]

Skin cutaneous:
Macular rash, or erythema nodosum noted in some patients. One case with recurrent pharyngitis. [101]

Neurologic:
Recurrent fevers with flares, plus headaches, asthenia and pain. One patient with cold-triggered or pregnancy triggered flares. [101]

Auditory:
Not noted. [101]

Ophthalamic:
Anterior uveitis. [101]

Cardiopulmonary:
Occasional thoracic pain and one patient with a hacking cough during flares. [101]

Abdominal:
Abdominal pain, nausea and/or constipation. Mesenteric adenitis and abdominal pain can mimic appendicitis. [101]

Lymphatic:
Lymphadenopathy, mesenteric adenitis [101]

Joints bones muscles cartilage:
Mylagia, arthrlagia, and arthritis (can be severe). One patient with a stress fracture and dental problems, possibly due to amelogenesis imperfecta. [101] In some other types of TNFRSF11A mutations that are NOT associated with periodic fevers and flares, familial expansile osteolysis, osteopetrosis, and Paget disease of bone have been noted, but have NOT been found in the group of patients with the periodic fever type of presentation of symptoms. [90] [101].

Vasculitis:
Not noted. [90] [101]

Amyloidosis:
Unknown. Not noted. [90] [101]

Abnormal labs:
High during flares, or sometimes between flares: CRP, ESR, hypergammaglobulinema. One patient with fluctuating in ANA titers but no autoimmunity noted. [101]

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