S

Acromegaly: Awareness among

Health Care Practitioners

Redzuan Zarool Hassan, Marianne S ElstonHelen M Conaglen, John V Conaglen

“I suffered for 10 years at least with symptoms of acromegaly before diagnosis was made. Early diagnosis would have saved me much discomfort.”

Shared Experiences

“I have found myself really angry at his (GP’s) dismissive attitude to a lot of my symptoms over the years…I do believe he should have diagnosed my condition earlier .”  

Shared Experiences

“I feel most let down by the ENT specialist …who didn't ask about my hands and feet, and simply diagnosed weak vocal chords and sent me to a speech therapist.”

Shared Experiences

Valuable Insight

Reflection for learning point, what the system lacks

Although rare, acromegaly can impact livelihood significantly

Awareness is important

Background: Acromegaly

GH excess

Pituitary adenoma

Insidious

Non-specific symptoms

Epidemiology

Rare Incidence: 3-4 per million per year

Prevalence: 60 per million Daly et

al. 2006

Delay in diagnosis 5–10 yrs after symptom onset

Rajasoorya et al. 1994

Awareness amongst Healthcare Practitioners

No reduction in delay of diagnosis 1981-2006

Under-recognition of clinical features

Reid et al. 2010

Effects of Acromegaly

4 Ds: Deformity, Disease, Disability & Death

Increased mortality Uncontrolled GH excess: 10 years earlier death

Rajasoorya et al. 1994

Multiple comorbidities Heart disease, stroke, diabetes, arthritis, vision

problems, sleep apnoea

Acromegaly & Body Image study Conaglen, Elston et al. 2015

Questionnaire Paper & online survey 2012-2014 Waikato Endocrine Clinic patients NZ Acromegaly Society members

Aim to identify: Acromegalic signs/symptoms pre-diagnosis Healthcare practitioners the patients

encountered Professional groups that missed diagnosis

Study Methods

3941

1

Male Female Unidentified

64

62

6

Ethnicity n = 78NZ European Maori

Pacific Islander Asian

Demographics

Gender n =81

<20 21 - 30 31 - 40 41 - 50 51 - 60 61 - 70 71 - 80 >800

5

10

15

20

25

1

4

2

16

19

22

13

2

Number (n)

Age at Data Collection

<20 21 - 30 31 - 40 41 - 50 51 - 60 61 - 70 71 - 80 >800

5

10

15

20

25

1

4

2

16

19

22

13

2

Number (n)

Age at Data Collection

<20 21 - 30 31 - 40 41 - 50 51 - 60 61 - 70 71 - 80 >800

5

10

15

20

25

3

9

15

22

16

11

2

0

Number (n)

Age at Diagnosis

<20 21 - 30 31 - 40 41 - 50 51 - 60 61 - 70 71 - 80 >800

5

10

15

20

25

3

9

15

22

16

11

2

0

Number (n)

Age at Diagnosis

Period with Symptoms before Diagnosis

<1 year 1- 5 years 5 - 10 years >10 years0

5

10

15

20

25

6

20

23

17

Number (n)

Common Features Pre-Diagnosis

Facial feature changes 76%

Foot enlargement 82% Hand enlargement 79%

Features Pre-Diagnosis: Acral Changes

Features n (%)

<1 year (%)

1-5 years(%)

5-10 years(%)

>10 years(%)

Foot enlargement

82 0 55 36 8

Hand enlargement

79 0 48 39 14

Glove tightness

66 0 54 29 17

Features Pre-Diagnosis: Acral Changes

Features n (%)

<1 year (%)

1-5 years(%)

5-10 years(%)

>10 years(%)

Foot enlargement

82 0 55 36 8

Hand enlargement

79 0 48 39 14

Glove tightness

66 0 54 29 17

Features Pre-Diagnosis: Acral Changes

Features n (%)

<1 year (%)

1-5 years(%)

5-10 years(%)

>10 years(%)

Foot enlargement

82 0 55 36 8

Hand enlargement

79 0 48 39 14

Glove tightness

66 0 54 29 17

Features Pre-Diagnosis: Orofacial Changes

Features n (%)

<1 year (%)

1-5 years(%)

5-10 years (%)

>10 years (%)

Facial feature changes

79 6 62 18 15

Jaw/forehead enlargement

58 8 52 24 16

Tongue size increase

51 8 64 20 8

Bite change 50 7 53 20 20

Features Pre-Diagnosis: Orofacial Changes

Features n (%)

<1 year (%)

1-5 years(%)

5-10 years (%)

>10 years (%)

Facial feature changes

79 6 62 18 15

Jaw/forehead enlargement

58 8 52 24 16

Tongue size increase

51 8 64 20 8

Bite change 50 7 53 20 20

Features Pre-Diagnosis: Orofacial Changes

Features n (%)

<1 year (%)

1-5 years(%)

5-10 years (%)

>10 years (%)

Facial feature changes

79 6 62 18 15

Jaw/forehead enlargement

58 8 52 24 16

Tongue size increase

51 8 64 20 8

Bite change 50 7 53 20 20

Symptoms Prompting Diagnosis:

Noticed by Self vs. Others

Facial changes Hands and/or feet changes

Changes in Both

0

2

4

6

8

10

12

1

9

6

4

10

7

Noticed by Self

Questions Arising from Study

Are facial feature changes more obvious than acral changes, therefore, noticed earlier?

Are facial feature changes less tolerable than acral changes?

Mass Effects of Pituitary Tumour

Headaches 54%

Sinus problems 34%

Visual disturbance 32%

Hearing loss 18%

Endocrine Disturbance

Fatigue 73% Skin tags 64% Sweating 64%

Weight gain 58 %Irregular period 54%Acne/oily skin 47%

Endocrine Disturbance

Hirsutism 36% Muscle gain 30% Hair loss 28%

Height gain 16% Impotence 14% Infertility 11%

Co-morbidities

Co-morbidity %Arthritis 50

Bowel polyps/cancer 43

High blood pressure 42

High cholesterol 41

Obsructive sleep apnoea 35

Diabetes/impaired glucose tolerance 29

Thyroid problems 28

Carpal tunnel syndrome 23

Co-morbidities

Co-morbidity %Arthritis 50

Bowel polyps/cancer 43

High blood pressure 42

High cholesterol 41

Obsructive sleep apnoea 35

Diabetes/impaired glucose tolerance 29

Thyroid problems 28

Carpal tunnel syndrome 23

Co-morbidities

Co-morbidity %Arthritis 50

Bowel polyps/cancer 43

High blood pressure 42

High cholesterol 41

Obsructive sleep apnoea 35

Diabetes/impaired glucose tolerance 29

Thyroid problems 28

Carpal tunnel syndrome 23

Co-morbidities

Co-morbidity %Arthritis 50

Bowel polyps/cancer 43

High blood pressure 42

High cholesterol 41

Obsructive sleep apnoea 35

Diabetes/impaired glucose tolerance 29

Thyroid problems 28

Carpal tunnel syndrome 23

24

2

42

12

Concern from you

Concern from fam-ily member

Concern from doctor/other health profes-sionals

Combined reasons

Who Prompted Diagnosis?

24

2

42

12

Concern from you

Concern from fam-ily member

Concern from doctor/other health profes-sionals

Combined reasons

Who Prompted Diagnosis?

Health Practitioners Seen Pre-Diagnosis

GP 91%

Dentists 42%

Eye specialists 33%

Endocrinologists 31%

Orthopaedic surgeon 24%

Health Practitioners Seen Pre-Diagnosis

Cardiologist 17%

Sleep/respiratory specialist 14%

Gynaecologist 6.2%

ENT specialist 3.8%

Gastroenterologist 3.8%

Diabetologist 3.5%

General surgeon n=2

Dermatologist n=1

Neurologist n=1

Neurosurgeon n=1

Oncologist n=1

Psychiatrist n=1

Rheumatologist n=1

Who Made the Diagnosis?Group %

Endocrinologist 29

GP (incl. 2 locums)

24

ENT surgeon 5

Ortho surgeon 5

Neurologist 3

Sleep specialist 3

Other 5

31% saw endocrinologist, 29% diagnosed by endocrinologist

91% saw GPs, 24% diagnosed by GP

Can’t evaluate GP’s effort

Diagnosis by locum GP

NOTE: only included >1%

Who Made the Diagnosis?Group %

Endocrinologist 29

GP (incl. 2 locums)

24

ENT surgeon 5

Ortho surgeon 5

Neurologist 3

Sleep specialist 3

Other 5

31% saw endocrinologist, 29% diagnosed by endocrinologist

91% saw GPs, 24% diagnosed by GP

Can’t evaluate GP’s effort

Diagnosis by locum GP

NOTE: only included >1%

Study Limitations

Clinical notes not reviewed re: participant confidentiality

Cross-sectional questionnaire – subject to recall bias

S

Why is this important?

Importance of Early Recognition

GH level normalisation reduces overall mortality risk Holdaway et al. 2008

Appropriate early treatment Prevent progression of disease

Improve quality of life

Population screening using IGF-1 (DETECT Study, 2008) N = 6773 Only 1.85% with elevated IGF-1 Weakness: uneconomical and unnecessary

routing testing increasing patient anxiety

Notable Methods of Early Recognition

Computerized face detection (Miller et al., 2011) Higher accuracy of

detection (Schneider et al., 2011)

Difficult to apply in GP/dental practices

Notable Methods of Early Recognition

Awareness is Key

Simple but practical approach Handouts/publications Awareness campaigns Close relations with local acromegaly

societies Emphasis in medical curriculum

In Summary

Delayed diagnosis for many years

Acral & orofacial features: most common

Shorter duration between onset of orofacial symptoms and diagnosis

Multiple comorbidities

Better awareness needed Especially primary healthcare

practitioners

Acknowledgements

Participants of the study: Waikato Endocrine Clinic New Zealand Acromegaly Society

Dr Catherine Chan

Dr Marianne Elston

Dr Helen Conaglen

Prof John Conaglen

THANK YOU