Skip to main content

Table 1 Clinical characteristics of the two TRAPS patients included in the study

From: The novel S59P mutation in the TNFRSF1A gene identified in an adult onset TNF receptor associated periodic syndrome (TRAPS) constitutively activates NF-κB pathway

  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