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Table 2 PFS diagnosis information

From: Reasons for canakinumab initiation among patients with periodic fever syndromes: a retrospective medical chart review from the United States

 

Overall (N=147)

Children (N=68)

Adults (N=79)

PFS subtypes

CAPS (n=59)

TRAPS (n=40)

HIDS/MKD (n=12)

FMF (n=42)

PFS subtype, n (%)

CAPS

54 (36.7)

23 (33.8)

31 (39.2)

54 (91.5)

0 (0.0)

0 (0.0)

0 (0.0)

 FCAS

22 (15.0)

8 (11.8)

14 (17.7)

22 (37.3)

0 (0.0)

0 (0.0)

0 (0.0)

 MWS

24 (16.3)

11 (16.2)

13 (16.5)

24 (40.7)

0 (0.0)

0 (0.0)

0 (0.0)

 Mixed CAPS phenotype

8 (5.4)

4 (5.9)

4 (5.1)

8 (13.6)

0 (0.0)

0 (0.0)

0 (0.0)

TRAPS

39 (26.5)

17 (25.0)

22 (27.8)

0 (0.0)

39 (97.5)

0 (0.0)

0 (0.0)

HIDS/MKD

10 (6.8)

6 (8.8)

4 (5.1)

0 (0.0)

0 (0.0)

10 (90.9)

0 (0.0)

FMF

39 (26.5)

19 (27.9)

20 (25.3)

0 (0.0)

0 (0.0)

0 (0.0)

39 (92.9)

Mixed PFSa

5 (3.4)

3 (4.4)

2 (2.5)

5 (8.5)

1 (2.5)

1 (9.1)

3 (7.1)

Age at PFS diagnosis, mean (SD)

16.5 (15.0)

6.9 (4.0)

24.8 (16.1)

17.7 (16.7)

17.6 (14.7)

13.9 (15.2)

13.5 (11.9)

Time elapsed between initial symptoms and diagnosis, n (%)

 <6 months

10 (6.8)

6 (8.8)

4 (5.1)

5 (8.5)

1 (2.5)

0 (0.0)

4 (9.5)

 6–12 months

50 (34.0)

27 (39.7)

23 (29.1)

24 (40.7)

14 (35.0)

1 (9.1)

11 (26.2)

 1–2 years

52 (35.4)

29 (42.6)

23 (29.1)

22 (37.3)

15 (37.5)

6 (54.5)

13 (31.0)

 2–5 years

19 (12.9)

5 (7.4)

14 (17.7)

3 (5.1)

6 (15.0)

3 (27.3)

8 (19.0)

 >5 years

13 (8.8)

0 (0.0)

13 (16.5)

5 (8.5)

2 (5.0)

1 (9.1)

5 (11.9)

 Unknown

3 (2.0)

1 (1.5)

2 (2.5)

0 (0.0)

2 (5.0)

0 (0.0)

1 (2.4)

Primary specialty of physician who has first diagnosed PFS, n (%)

 Rheumatology

75 (51.0)

28 (41.2)

47 (59.5)

24 (40.7)

24 (60.0)

5 (45.5)

24 (57.1)

 Immunology

29 (19.7)

20 (29.4)

9 (11.4)

18 (30.5)

3 (7.5)

0 (0.0)

10 (23.8)

 Internal medicine

15 (10.2)

8 (11.8)

7 (8.9)

3 (5.1)

8 (20.0)

2 (18.2)

2 (4.8)

 Allergy

15 (10.2)

5 (7.4)

10 (12.7)

9 (15.3)

3 (7.5)

2 (18.2)

2 (4.8)

 Dermatology

9 (6.1)

5 (7.4)

4 (5.1)

4 (6.8)

2 (5.0)

1 (9.1)

2 (4.8)

 Otherb

1 (0.7)

1 (1.5)

0 (0.0)

1 (1.7)

0 (0.0)

0 (0.0)

0 (0.0)

 Unknown

3 (2.0)

1 (1.5)

2 (2.5)

0 (0.0)

0 (0.0)

1 (9.1)

2 (4.8)

Methods of diagnosis, n (%)

 Assessment of clinical manifestations and complications (e.g., recurrent fever)

128 (87.1)

59 (86.8)

69 (87.3)

51 (86.4)

35 (87.5)

7 (63.6)

39 (92.9)

 Age of onset

92 (62.6)

43 (63.2)

49 (62.0)

37 (62.7)

25 (62.5)

8 (72.7)

26 (61.9)

 Assessment of family history/ancestry

84 (57.1)

43 (63.2)

41 (51.9)

38 (64.4)

21 (52.5)

6 (54.5)

22 (52.4)

 Exclusion/rule-out diagnostics (e.g., infection, neoplasms)

77 (52.4)

36 (52.9)

41 (51.9)

31 (52.5)

17 (42.5)

4 (36.4)

28 (66.7)

 Assessment of triggers (e.g., menstruation, vaccination, stress, cold, infection)

76 (51.7)

39 (57.4)

37 (46.8)

32 (54.2)

18 (45.0)

6 (54.5)

22 (52.4)

 Genetic tests

65 (44.2)

36 (52.9)

29 (36.7)

27 (45.8)

10 (25.0)

6 (54.5)

25 (59.5)

 Laboratory assessments (e.g., CRP, ESR, SAA)

63 (42.9)

31 (45.6)

32 (40.5)

24 (40.7)

13 (32.5)

5 (45.5)

23 (54.8)

 Response to trial therapy

42 (28.6)

23 (33.8)

19 (24.1)

17 (28.8)

4 (10.0)

2 (18.2)

22 (52.4)

 Otherc

1 (0.7)

1 (1.5)

0 (0.0)

1 (1.7)

0 (0.0)

0 (0.0)

0 (0.0)

Combination of methods used for diagnosis, n (%)

 >1 diagnosis method

128 (87.1)

63 (92.6)

65 (82.3)

52 (88.1)

33 (82.5)

9 (81.8)

38 (90.5)

 >2 diagnosis method

108 (73.5)

54 (79.4)

54 (68.4)

44 (74.6)

25 (62.5)

7 (63.6)

36 (85.7)

Diagnoses ruled out prior to the confirmed diagnosis, n (%)

 Fever of unknown origin

103 (70.1)

50 (73.5)

53 (67.1)

41 (69.5)

26 (65.0)

8 (72.7)

32 (76.2)

 Urticaria or rash/allergy

80 (54.4)

34 (50.0)

46 (58.2)

32 (54.2)

20 (50.0)

6 (54.5)

25 (59.5)

 Recurrent infection

75 (51.0)

41 (60.3)

34 (43.0)

26 (44.1)

19 (47.5)

4 (36.4)

28 (66.7)

 Systemic lupus erythematosus

36 (24.5)

18 (26.5)

18 (22.8)

13 (22.0)

9 (22.5)

2 (18.2)

12 (28.6)

 Vasculitis (e.g., polyarthritis nodosa, Behcet’s disease)

47 (32.0)

22 (32.4)

25 (31.6)

20 (33.9)

10 (25.0)

4 (36.4)

14 (33.3)

 Pharyngitis

43 (29.3)

19 (27.9)

24 (30.4)

22 (37.3)

9 (22.5)

2 (18.2)

12 (28.6)

 Rheumatoid arthritis

32 (21.8)

11 (16.2)

21 (26.6)

12 (20.3)

11 (27.5)

2 (18.2)

8 (19.0)

 Neoplasms

35 (23.8)

17 (25.0)

18 (22.8)

15 (25.4)

9 (22.5)

1 (9.1)

10 (23.8)

 Other juvenile idiopathic arthritis

25 (17.0)

18 (26.5)

7 (8.9)

10 (16.9)

7 (17.5)

1 (9.1)

7 (16.7)

 Inflammatory bowel disease

21 (14.3)

9 (13.2)

12 (15.2)

7 (11.9)

3 (7.5)

4 (36.4)

7 (16.7)

 PFS subtype other than the final diagnosis

12 (8.2)

10 (14.7)

2 (2.5)

7 (11.9)

1 (2.5)

0 (0.0)

4 (9.5)

 No rule-out diagnosis

9 (6.1)

3 (4.4)

6 (7.6)

1 (1.7)

8 (20.0)

1 (9.1)

0 (0.0)

 Otherd

5 (3.4)

1 (1.5)

4 (5.1)

1 (1.7)

1 (2.5)

0 (0.0)

3 (7.1)

  1. CAPS cryopyrin-associated periodic syndromes, CRP C-reactive protein, ESR erythrocyte sedimentation rate, FMF familial Mediterranean fever, HIDS hyperimmunoglobulin D syndrome, MKD mevalonate kinase deficiency, PFS periodic fever syndrome, SAA serum amyloid A, SD standard deviation, TRAPS tumor necrosis factor receptor-associated periodic syndrome
  2. aThe mixed PFS were NOMID/CINCA + HIDS/MKD, FCAS+FMF, FCAS+FMF, MWS+TRAPS, MWS+FMF
  3. bOther specialties of diagnosing physician's included ‘pediatrics’
  4. cOther methods of diagnosis included ‘hearing loss’
  5. dOther ruled-out diagnosis included ‘scrotal pain’, ‘fatigue’, ‘arthralgia’ (2 respondents), and ‘genetic eye condition’