Clinical characteristics
| Current families | |||||
|---|---|---|---|---|---|
| Characteristic | FMF | Family 1 | Family 2 | Family 3* | Family 4* |
| c.1730C>A; p.T577N | c.1730C>G; p.T577S | c.1729A>T; p.T577S | c.1729A>G; p.T577A | ||
| Inheritance | Autosomal recessive | Autosomal dominant | Autosomal dominant | ? | ? |
| Ethnic background | Mediterranean (Turkish, Arab, Armenian, Jewish, Italian) | British | Turkish | Dutch† | Dutch |
| Colchicine responsiveness | ++ | ++ | ++ | NA | –‡ |
| Fever | ++ | ++ | ++ | NA | ++ |
| Serositis | ++ | ++ | ++ | NA | Arthritis |
| Skin lesions | ++ Erysipelas-like erythema | + Faint evanescent rash | − | NA | ++ |
| Hepatosplenomegaly | +/− | − | − | NA | ++ |
| Anaemia | +/− | − | − | NA | ++ |
| Psychomotor delay | – | – | – | NA | + (II:1) |
| Duration of episodes | 2–3 days | Days to weeks | 1–1.5 weeks | NA | weeks |
*In families 3 and 4, additional non-classic MEFV mutations were found: p.T267I and p.P369S/R408Q, respectively.
†Dutch patient of French origin.
‡Good response to anakinra. Symbols ranging from − to ++ indicate the absence or (degree of) presence of the mentioned symptoms.
FMF, familial Mediterranean fever; NA, not enough clinical data available from family 3.