Figures
- FIGURE 1
Case-specific breakdown of a) diagnoses and b) follow-up, selected by responders. Total diagnoses=number of raters (55)×number of cases (7)=385. CF: cystic fibrosis; CFTR: CF transmembrane conductance regulator.
- FIGURE 2
Alluvial plot of the follow-up selection based on responder-selected diagnosis. 28.7% of adult cystic fibrosis (CF) diagnoses were assigned to modified CF standard of care follow-up. 22.5% of CF transmembrane conductance regulator-related disorder (CFTR-RD) diagnosis were assigned to full CF standard of care follow-up, while 80.9% of those recommended to need further testing were assigned to either no CF follow-up (21.3%) or modified CF follow-up (59.6%).
- FIGURE 3
Subjective responder agreement with statements regarding implications of increased recognition and need for cystic fibrosis transmembrane conductance regulator-related disorder (CFTR-RD) assessments. CF: cystic fibrosis.
Tables
- TABLE 1
Characteristics of responders completing the study (n=55)
Total Location p-value Canada UK and Ireland USA Location 55 (100.0) 15 (27.3) 11 (20.0) 29 (52.7) Years of clinical experience 0.21 <5 years 10 (18.2) 4 (26.7) 3 (27.3) 3 (10.3) 5–10 years 11 (20.0) 5 (33.3) 1 (9.1) 5 (17.2) >10 years 34 (61.8) 6 (40.0) 7 (63.6) 21 (72.4) Estimated annual adult assessments (n) 0.17 <5 19 (34.5) 9 (60.0) 3 (27.3) 7 (24.1) 5–10 19 (34.5) 3 (20.0) 5 (45.5) 11 (37.9) >10 17 (30.9) 3 (20.0) 3 (27.3) 11 (37.9) Data are presented as n (%), unless otherwise stated.
- TABLE 2
Breakdown of diagnoses by responder locations, responder clinical experience and choice of follow-up based on diagnosis#
Location CF practice experience Stratified by follow-up selected Canada UK and Ireland USA p-value <5
years5–10
years>10
yearsp-value No CF follow-up Modified CF SOC CF SOC p-value Diagnoses 105 77 203 70 77 238 105 154 126 Diagnosis 0.002 0.163 <0.001 CF 39 (37.1) 25 (32.5) 65 (32.0) 22 (31.4) 29 (37.7) 78 (32.8) 1 (1.0) 37 (24.0) 91 (72.2)* CF diagnosis not resolved – needs further testing 23 (21.9) 31 (40.3)* 35 (17.2) 10 (14.3) 21 (27.3) 58 (24.4) 19 (18.1) 53 (34.4)* 17 (13.5) CFTR-related disorder 22 (21.0) 10 (13.0) 48 (23.6) 15 (21.4) 18 (23.4) 47 (19.7) 11 (10.5) 51 (33.1)* 18 (14.3) CF carrier 15 (14.3) 6 (7.8) 26 (12.8) 12 (17.1) 6 (7.8) 29 (12.2) 38 (36.2)* 9 (5.8) 0 (0.0) None of the above 6 (5.7) 5 (6.5) 29 (14.3) 11 (15.7) 3 (3.9) 26 (10.9) 36 (34.3)* 4 (2.6) 0 (0.0) Data are presented as n or n (%), unless otherwise stated. CF: cystic fibrosis; SOC: standard of care; CFTR: CF transmembrane conductance regulator. #: total diagnoses=number of raters (55)×number of cases (7)=385. *: significance for positive association in post hoc testing with Bonferroni corrected p-value <0.05.
- TABLE 3
Ratings of clinical feature contribution to supporting a “clinical presentation of CF” (n=54 responses)
Not individually supportive Somewhat supportive Strongly supportive Total (weighted) Clinical features Pancreatic insufficiency 0 (0) 13 (24.07) 41 (75.93)# 142.5 Infertility/CBAVD 0 (0) 13 (24.07) 41 (75.93)# 142.5 Bronchiectasis – diffuse 1 (1.85) 22 (40.74) 31 (57.41)# 126 Radiographic pancreatic fibrosis 1 (1.85) 33 (61.11) 20 (37.04) 109.5 Daily sputum production 6 (11.11) 38 (70.37) 10 (18.52) 87 Aquagenic wrinkling 16 (29.63) 24 (44.44) 14 (25.93) 78 Frequent need for antibiotics for chest 10 (18.52) 36 (66.67) 8 (14.81) 78 Vitamin A/E deficiency 10 (18.52) 38 (70.37) 6 (11.11) 75 Nasal polyposis 14 (25.93) 32 (59.26) 8 (14.81) 72 ABPA diagnosis 13 (24.07) 38 (70.37) 3 (5.56) 66 Bronchiectasis – asymmetrical 19 (35.19) 27 (50) 8 (14.81) 64.5 Radiographic rhinosinusitis 15 (27.78) 36 (66.67) 3 (5.56) 63 Liver disease/steatosis/cirrhosis 29 (53.7) 4 (7.41) 55.5 Obstructive spirometry 20 (37.04) 32 (59.26) 2 (3.7) 54 Osteoporosis/osteopenia 32 (59.26) 20 (37.04) 2 (3.7) 36 Constipation 37 (68.52) 14 (25.93) 3 (5.56) 30 Vitamin D deficiency 37 (68.52) 15 (27.78) 2 (3.7) 28.5 Airway microbiology Burkholderia cepacia complex 2 (3.7) 14 (25.93) 38 (70.37)# 135 Pseudomonas aeruginosa 23 (42.59) 30 (55.56)# 124.5 Stenotrophomonas maltophilia 7 (12.96) 31 (57.41) 16 (29.63) 94.5 Mycobacterium abscessus sp. 7 (12.96) 32 (59.26) 15 (27.78) 93 Achromobacter species 9 (16.67) 30 (55.56) 15 (27.78) 90 MRSA 12 (22.22) 33 (61.11) 9 (16.67) 76.5 MSSA 12 (22.22) 36 (66.67) 6 (11.11) 72 Mycobacterium avium complex 12 (22.22) 37 (68.52) 5 (9.26) 70.5 Aspergillus fumigatus sp. 22 (40.74) 31 (57.41) 1 (1.85) 49.5 Streptococcus pneumoniae 48 (88.89) 6 (11.11) 0 (0) 9 Data are presented as n (%), unless otherwise stated. Total score calculated on a basis of 0, 1.5 and 3 points allocated for each count of “Not supportive”, “Somewhat supportive” and “Strongly supportive”, respectively. CF: cystic fibrosis; CBAVD: congenital bilateral absence of the vas deferens; ABPA: allergic bronchopulmonary aspergillosis; MRSA: methicillin-resistant Staphylococcus aureus; MSSA: methicillin-sensitive S. aureus. #: responses with ≥50% selection as “Strongly supportive” of need for follow-up at a specialist CF centre.
- TABLE 4
Ratings of factors influencing responder decision on individual need for follow-up at a cystic fibrosis (CF) specialist centre (n=54 responses)
Would not contribute Contributes somewhat Major determinant Total (weighted) Burkholderia cenocepacia complex sputum positive 2 (3.7) 13 (24.07) 39 (72.22)# 136.5 Confirmed exocrine pancreatic insufficiency 1 (1.85) 15 (27.78) 38 (70.37)# 136.5 Frequent pulmonary exacerbations 3 (5.56) 14 (25.93) 37 (68.52)# 132 Pseudomonas aeruginosa sputum positive 4 (7.41) 19 (35.19) 31 (57.41)# 121.5 Worse lung function at presentation 5 (9.26) 19 (35.19) 30 (55.56)# 118.5 Recurrent pancreatitis 3 (5.56) 28 (51.85) 23 (42.59) 111 Nutritional status/BMI 5 (9.26) 29 (53.7) 20 (37.04) 103.5 NTM sputum positive 7 (12.96) 26 (48.15) 21 (38.89) 102 Lung function relative to age at presentation 10 (18.52) 25 (46.3) 19 (35.19) 94.5 MRSA sputum positive 11 (20.37) 26 (48.15) 17 (31.48) 90 Other bacterial sputum positivity¶ 10 (18.52) 29 (53.7) 15 (27.78) 88.5 Younger age at presentation 12 (22.22) 29 (53.7) 13 (24.07) 82.5 Diagnosis of ABPA 11 (20.37) 33 (61.11) 10 (18.52) 79.5 Confirmed diagnosis of diabetes 17 (31.48) 28 (51.85) 9 (16.67) 69 Already attending a pulmonary specialist 23 (42.59) 27 (50) 4 (7.41) 52.5 Data are presented as n (%), unless otherwise stated. Total score calculated on a basis of 0, 1.5 and 3 points allocated for each count of “Would not contribute”, “Contributes somewhat” and “Major determinant”, respectively. BMI: body mass index; NTM: nontuberculous mycobacteria; MRSA: methicillin-resistant Staphylococcus aureus; ABPA: allergic bronchopulmonary aspergillosis. #: response with ≥50% selection as “Major determinant” of need for follow-up at a specialist CF centre; ¶: Stenotrophomonas, Achromobacter and methicillin-sensitive S. aureus.
Supplementary Material
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Supplementary material 00227-2022.SUPPLEMENT
