|
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
|
