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
E) Cryopyrin-associated periodic syndromes
Here are the results of the voting:
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.