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Table 3 Symptom concept frequencies, severity, and most bothersome ratings

From: Development of the Fabry Disease Patient-Reported Outcome (FD-PRO): a new instrument to measure the symptoms and impacts of Fabry Disease

Symptom concepts

Treated group (n = 20)

Treatment-naïve group (n = 17)

Frequency, %

Severity rating, mean (n)

Bothersome rating, mean (n)

Frequency, %

Severity rating, mean (n)

Bothersome rating, mean (n)

Neuropathic pain symptoms

95.0

  

82.4

  

 Burning pain

80.0

7.9 (9)

5.0 (7)

47.1

7.3 (6)

6.6 (5)

 Crisis pain

60.0

8.7 (3)

5.8 (5)

29.4

7.5 (2)

7.5 (2)

 Neuropathic pain

10.0

10.0 (1)

6.0 (1)

0.0

 Numbness

70.0

5.8 (1)

5.8 (5)

23.5

7.3 (3)

8.0 (3)

 General pain

75.0

8.0 (7)

5.8 (4)

41.2

9.5 (2)

10.0 (2)

 Tingling

45.0

5.3 (4)

3.0 (3)

52.9

6.3 (7)

5.3 (7)

Other pain symptoms

90.0

  

64.7

  

 Headache/migraine

55.0

6.8 (6)

5.7 (6)

52.9

5.3 (6)

5.0 (6)

 Localized pain

40.0

8.3 (3)

6.5 (2)

23.5

6.8 (5)

7.0 (4)

 Whole body pain

45.0

5.9 (7)

7.3 (4)

35.3

9.5 (2)

9.0 (2)

Digestive/gastrointestinal symptoms

80.0

  

58.8

  

 Constipation

15.0

6.5 (2)

8.7 (3)

23.5

7.0 (3)

7.0 (3)

 Cramping

20.0

7.8 (4)

5.8 (4)

11.8

8.0 (1)

 Diarrhea

75.0

6.8 (12)

5.2 (9)

35.3

6.8 (6)

6.5 (4)

 Digestion and heartburn

25.0

11.8

 Gas and bloating

15.0

10.0 (1)

10.0 (1)

23.5

7.0 (1)

6.0 (1)

 Nausea

15.0

11.8

8.0 (1)

8.0 (1)

 Stomach pain

30.0

10.0 (1)

10.0 (1)

35.3

7.5 (4)

9.8 (4)

 Upset stomach

35.0

6.5 (2)

5.3 (3)

35.3

 Urgency

35.0

8.3 (6)

6.8 (4)

11.8

7.0 (1)

2.5 (2)

 Vomiting

10.0

5.0 (1)

5.9

2.0 (1)

10.0 (1)

Temperature intolerance and change

95.0

  

88.2

  

 Cold intolerance

55.0

5.6 (7)

4.4 (5)

58.8

7.9 (7)

6.1 (8)

 General fever

45.0

6.5 (2)

4.7 (3)

11.8

 Excessive sweating

0

8.0 (1)

10.0 (1)

17.6

5.6 (5)

5.0 (2)

 Heat intolerance

85.0

7.4 (14)

6.7 (14)

47.1

7.4 (10)

6.8 (5)

 Lack of sweating

65.0

6.6 (11)

3.2 (11)

52.9

5.2 (5)

2.2 (9)

 Localized fever

5.0

10.0 (1)

7.0 (1)

0.0

 Temperature insensitivity

5.0

10.0 (1)

2.0 (1)

0.0

7.0 (1)

Edema

55.0

  

41.2

  

 Swelling

55.0

6.4 (10)

6.4 (11)

41.2

4.8 (5)

4.2 (5)

 Other edema

5.0

10.0 (1)

0.0

Energy difficulties

95.0

  

94.1

  

 Fatigue

70.0

7.7 (9)

9.0 (9)

47.1

6.8 (4)

7.4 (5)

 Low stamina

15.0

6.0 (1)

6.0 (1)

11.8

 Low or no energy

40.0

6.0 (1)

5.5 (2)

41.2

6.0 (1)

8.0 (2)

 Physical weakness

30.0

0.0

 Tiredness

90.0

6.9 (11)

7.2 (10)

76.5

7.4 (10)

7.5 (11)

Hearing and vision problems

95.0

  

70.6

  

 Earache

5.0

6.0 (2)

9.5 (2)

0.0

 Hearing loss

75.0

7.1 (8)

6.3 (8)

17.6

4.0 (1)

 Tinnitus

50.0

3.8 (9)

3.9 (9)

47.1

5.8 (8)

7.5 (11)

 Dry eyes

10.0

8.0 (1)

10.0 (1)

0.0

 Sight impairment

50.0

6.6 (5)

6.2 (5)

17.6

5.5 (2)

5.3 (3)

 Corneal whorling

30.0

0.0 (1)

11.8

0.0 (1)

 Other eye problems

5.0

11.8

Skin problems

80.0

  

23.5

  

 Angiokeratomas

20.0

2.0 (1)

2.0 (1)

23.5

 Rash

45.0

4.9 (10)

2.3 (11)

0.0

3.3 (3)

2.0 (3)

 Other skin problems

30.0

0.0

6.0 (1)

5.0 (1)

Cardiac problems

70.0

  

52.9

  

 General heart problems

20.0

1.0 (1)

41.2

5.0 (2)

4.5 (4)

 Heart damage

35.0

5.0 (5)

7.2 (6)

11.8

7.5 (2)

4.0 (4)

 Heart palpitations/arrhythmia

45.0

6.3 (5)

6.0 (6)

5.9

4.8 (4)

2.5 (4)

Respiratory problems

50.0

64.7

  

 Breathing difficulty

35.0

9.0 (2)

9.7 (3)

41.2

5.0 (1)

8.0 (1)

 Coughing

25.0

9.0 (1)

7.0 (1)

41.2

6.0 (1)

5.0 (1)

 Other respiratory problems

95.0

9.0 (1)

9.0 (1)

17.6

Additional symptoms

15.0

  

88.2

  

 Blood pressure

15.0

8.0 (1)

5.0 (1)

5.9

 Cerebrovascular symptoms

20.0

5.9

 Patient reports of cerebrovascular events

30.0

8.3 (3)

7.3 (3)

5.9

10.0 (1)

10.0 (1)

 Dizziness or lightheadedness

50.0

8.0 (3)

5.7 (3)

29.4

8.3 (3)

8.7 (3)

 Feeling ill

40.0

17.6

 Patient-expressed kidney signs and symptoms

30.0

3.3 (4)

5.4 (7)

41.2

8.0 (1)

4.1 (8)

 Patient reports of kidney-related clinical findings

40.0

47.1

 Musculoskeletal problems

40.0

6.3 (3)

5.3 (3)

11.8

10.0 (1)

7.0 (2)

 Speaking difficulties

20.0

0.0

 Urinary problems

35.0

2.0 (2)

5.5(2)

11.8

9.3 (3)

6.3 (3)

 Other symptoms

25.0

5.9

  1. Italics indicate higher expressions. Bold indicates highest expressions
  2. Bothersome and severity ratings range from 0 = not severe/bothersome at all, to 10 = extremely severe/bothersome