Table 1 Clinical characteristics of the two TRAPS patients included in the study
TRAPS patients | ||
|---|---|---|
TNFRSF1A variants | S59P | R92Q |
Ethnicity/gender | Italian/Male | Italian/Female |
Age at onset (year) | 49 years (1991) | 41 (2007) |
Age at TRAPS diagnosis (year) | 67 years (2009) | 45 (2011) |
Age at enrolment (year) | 71 years (2013) | 46 (2012) |
Clinical manifestations at onset | Episodes of recurrent bronchopneumonia, fever, leukocytosis, refractory iron-deficiency anaemia, myalgia, intermittent erythematosus skin lesions on limbs and trunk and one episode of pericarditis. | Episodes of fever, myalgia, arthritis, headache and episcleritis. |
Frequency of attacks (number per year) | 4 | 6 |
Duration of the attacks (days) | 7-14 | 7-14 |
Amyloid deposits | Yes (Spleen; 1996) | No |
Haematological and biochemical indices at diagnosis during an attack | ||
Polymorphonuclear cells | 24,190/μL | 3,790/μL |
Haemoglobin | 10 g/L | 12 g/L |
Platelet count | 842,000/μL | 283,000/μL |
Proteinuria | Absent | Absent |
C-reactive protein | 234 mg/L | 20 mg/L |
Serum amyloid A protein | 1270 mg/L | 59 mg/L |
Serum IgD | 271 g/L | 44 g/L |
Serum IgA | 5.03 g/L | 3.7 g/L |
Erythrocyte sedimentation rate | 120 mm/h | 44 mm/h |
Acute phase response | Persistent | Intermittent |
Treatment | Prednisone 25 mg/day (1992–2008) | Sulfasalazine 2 g/day (since 2010) |
Prednisone 7.5 mg/day (2008–2011) | Infliximab 6 mg/kg once per month (2012–2014) | |
Etanercept 25 mg twice per week (2011–2012) | Methotrexate 15 mg/week (since 2013) | |
Anakinra 100 mg/day (since 2012) | Etanercept 25 mg twice per week (since 2014) | |
Response to treatment | Partial to prednisone | Partial |
Unresponsive to etanercept | ||
Complete to anakinra | ||