Case history
Case history #1
A 15-year-old boy with Armenian ancestry presents to the emergency room with severe abdominal pain that started 6 hours ago, constipation for 3 days, and a temperature of 102°F (39°C). He has nausea but no vomiting. On examination, there is severe abdominal tenderness with guarding, and bowel sounds are present. There are scars from previous appendectomy and exploratory abdominal surgery 3 and 8 years ago, respectively. He has a history of recurrent febrile illnesses, sometimes with pleuritic chest pain. His pediatrician usually treats these with antibiotics and they typically resolve in less than 1 week.
Case history #2
A 31-year-old Italian male presents to the clinic with severe pain in his right hip causing limping. He has history of recurrent episodes of arthritis, which started when he was 5 years old and are usually associated with fever of 100°F (38°C). The arthritis typically affects one joint, starting initially in one of the ankles, and then affecting one of the knees. These episodes are usually treated with non-steroidal anti-inflammatory drugs (NSAIDs) and last for less than 1 week.
Other presentations
In most cases, fever is associated with signs of acute serosal inflammation, with only one site affected during an attack. The most severe attacks may involve more than one site. Rarely, patients may suffer from scrotitis, pericarditis or aseptic meningitis, diarrhea, arthritis/arthralgia, and transient vasculitic rashes mimicking Henoch-Schonlein purpura.
Patients may also present with complications including amyloidosis without any prior febrile illnesses (FMF phenotype II). Nevertheless, descriptions of FMF phenotype II date mainly from a period when diagnosis could be made on a clinical basis only and are mostly retrospective studies.[6][7][8][9] Indeed, it could be that patients in these studies disregarded mild attacks or attack manifestations were misdiagnosed as other diseases. Furthermore, prospective studies failed to prove the existence of FMF phenotype II, even in siblings with significant proteinuria.[10] Therefore, its existence may reasonably be revisited and/or seems limited only to a very small number of patients with more than one risk factor for amyloid A amyloidosis.
Other than amyloidosis, chronic manifestations of the disease (e.g., encapsulating peritonitis and chronic destructive arthritis, which especially affect the hips and knees) are rare. Splenomegaly, most often without any specific consequences, may also be observed in a subgroup of patients with incompletely controlled inflammation. Some patients suffer from associated diseases (e.g., seronegative spondyloarthropathy, Henoch-Schonlein purpura, and/or polyarteritis nodosa).
Incomplete presentations are more common in heterozygous patients, and heterozygosity may be a risk factor for various other inflammatory diseases (e.g., Crohn disease, Behcet disease, or multiple sclerosis).
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