Frequency of common clinical manifestations related to the 12 pathogenic variant types in the presented cases and gen-otype-phenotype correlation in patients with familial Mediterranean fever according to the method of Mor et al_ [11]_
| FMF Patients | Clinical Characteristics | |||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Erythema | Fever | Abdominal Pain | Arthritis | |||||||||||
| Mutation Type | n | % | n | With | Total | n | With | Total | n | With | Total | n | With | Total |
| p.Met694Val | 12 | 20.0 | 2 | 66.7 | 3.3 | 3 | 21.4 | 5.0 | 6 | 18.8 | 10.0 | 3 | 21.4 | 5.0 |
| p.Glu148Gln | 8 | 13.3 | 0 | – | – | 0 | – | – | 4 | 12.5 | 6.7 | 1 | 7.1 | 1.7 |
| p.Met680Ile | 7 | 11.7 | 0 | – | – | 1 | 7.1 | 1.7 | 4 | 12.5 | 6.7 | 2 | 14.3 | 3.3 |
| p.Arg202Gln | 7 | 11.7 | 0 | – | – | 3 | 21.4 | 5.0 | 5 | 15.6 | 8.3 | 2 | 14.3 | 3.3 |
| p.Val726Ala | 4 | 6.7 | 0 | – | – | 0 | – | – | 2 | 6.3 | 3.3 | 0 | – | – |
| p.Pro369Ser | 3 | 5.0 | 1 | 33.3 | 1.7 | 2 | 14.3 | 3.3 | 2 | 6.3 | 3.3 | 3 | 21.4 | 5.0 |
| p.Lys695Arg | 3 | 5.0 | 0 | – | – | 0 | – | – | 1 | 3.1 | 1.7 | 2 | 14.3 | 3.3 |
| p.Arg761His | 2 | 3.3 | 0 | – | – | 1 | 7.1 | 1.7 | 2 | 6.3 | 3.3 | 0 | – | – |
| IL28B | 1 | 1.7 | 0 | – | – | 1 | 7.1 | 1.7 | 1 | 3.1 | 1.7 | 0 | – | – |
| p.Glu244Asp | 1 | 1.7 | 0 | – | – | 0 | – | – | 0 | – | – | 0 | – | – |
| p.Met680Ile/p.Met694Val | 4 | 6.7 | 0 | – | – | 0 | – | – | 2 | 6.3 | 3.3 | 1 | 7.1 | 1.7 |
| p.Met694Val/p.Met694Ile | 2 | 3.3 | 0 | – | – | 0 | – | – | 0 | – | – | 0 | – | – |
| p.Glu148Gln/p.Met694Val | 1 | 1.7 | 0 | – | – | 0 | – | – | 0 | – | – | 0 | – | – |
| p.Met680Leu/p.Glu148Gln | 1 | 1.7 | 0 | – | – | 2 | 14.3 | 3.3 | 1 | 3.1 | 1.7 | 0 | – | – |
| p.Arg200Gln/p.Met694Val | 1 | 1.7 | 0 | – | – | 0 | – | – | 0 | – | – | 0 | – | – |
| p.Val726Ala/p.Arg202Gln | 1 | 1.7 | 0 | – | – | 1 | 7.1 | 1.7 | 1 | 3.1 | 1.7 | 0 | – | – |
| p.Pro369Ser/p.Glu148Gln | 1 | 1.7 | 0 | – | – | 0 | – | – | 1 | 3.1 | 1.7 | 0 | – | – |
| p.Lys695Arg/p.Arg202Gln/p.Glu244Asp | 1 | 1.7 | 0 | – | – | 0 | – | – | 0 | – | – | 0 | – | – |
| Total | 60 | 3 | 100.0 | 5.0 | 14 | 100.0 | 23.4 | 32 | 100.0 | 53.4 | 14 | 100.0 | 23.3 | |
Analysis of presenting gender and clinical manifestations of familial Mediterranean fever cases in the current study_
| Clinical Characteristics | FMF Patients (n and %) |
|---|---|
| Mean age (3-18 years) | 10.48 ± 4.83 |
| Gender: | |
| males | 28 (46.7) |
| females | 32 (53.3) |
| Pathogenic variant type: | |
| heterozygous | 42 (70.0) |
| homozygous | 6 (10.0) |
| compound | 12 (20.0) |
| Appendectomy history: | |
| yes | 4 (6.7) |
| no | 56 (93.3) |
| Parental consanguinity: | |
| yes | 8 (13.3) |
| no | 52 (86.7) |
| Erysipelas-like erythema: | |
| yes | 3 (5.0) |
| no | 57 (95.0) |
| Fever: | |
| yes | 14 (23.3) |
| no | 46 (76.6) |
| Arthritis: | |
| yes | 14 (23.3) |
| no | 46 (76.6) |
| Abdominal pain: | |
| yes | 32 (53.3) |
| no | 28 (46.7) |
| Colchicine therapy (1-2 mg/day): | |
| treated | 48 (80.0) |
| untreated | 12 (20.0) |