Answer to Case Challenge #4

Case challenge # 4 presented a 21 yo white male with recurrent fevers and joint pains. Symptoms started at age 10, episodes occur every 6 months. Fever episodes last about 2 weeks, also associated with periorbital edema and spreading rash on extremities. Father has similar symptoms and also developed renal failure and CHF in his 40s. On exam, he had a fever of 102.3 F, periorbital edema, patchy macular rash on extremities.

What is the most likely diagnosis in this case?

A) Familial Mediterranean Fever

B) TNF Receptor-1 associated periodic syndrome

C) Hyper IgD syndrome

D) Trichinosis

E) Cryopyrin-associated periodic syndromes

Here are the results of the voting:
Screen Shot 2015-02-20 at 9.57.49 AM
The patient has TNF Receptor-1 Associated Periodic Syndrome (TRAPS).
  • Autosomal dominant, one of periodic fever syndromes
  • First described in pt of Irish (Hibernian) origin
  • Due to genetic defect in TNF receptor gene (TNFR1)
  • Presents with fever of longer duration (5-20 days) plus abdominal pain, characteristic rash, conjunctivitis and periorbital edema
  • 25% develop amyloidosis with renal or cardiac dz.
Look forward to a more extensive review of TRAPS. There will be a new case challenge next week!