1.  Acromegaly: Awareness among Health Care Practitioners Redzuan Zarool Hassan, Marianne S Elston Helen M Conaglen, John V Conaglen

2. “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

3. “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

4. “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

5. Valuable Insight  Reflection for learning point, what the system lacks  Although rare, acromegaly can impact livelihood significantly  Awareness is important

6. Background: Acromegaly  GH excess  Pituitary adenoma  Insidious  Non-specific symptoms

7. 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

8. Awareness amongst Healthcare Practitioners  No reduction in delay of diagnosis 1981-2006  Under-recognition of clinical features Reid et al. 2010

9. 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

10.  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

11. Demographics Gender n =81

12. Age at Data Collection

14. Age at Diagnosis

16. Period with Symptoms before Diagnosis

17. Common Features Pre-Diagnosis Facial feature changes 76% Foot enlargement 82% Hand enlargement 79%

18. Features Pre-Diagnosis: Acral Changes Features n (%)<1 year (%) 1-5 years (%) 5-10 years (%) >10 years (%) Foot enlargement 82055368 Hand enlargement 790483914 Glove tightness660542917

19. Features Pre-Diagnosis: Acral Changes Features n (%)<1 year (%) 1-5 years (%) 5-10 years (%) >10 years (%) Foot enlargement 82055368 Hand enlargement 790483914 Glove tightness660542917

20. Features Pre-Diagnosis: Acral Changes Features n (%)<1 year (%) 1-5 years (%) 5-10 years (%) >10 years (%) Foot enlargement 82055368 Hand enlargement 790483914 Glove tightness660542917

21. Features Pre-Diagnosis: Orofacial Changes Features n (%)<1 year (%) 1-5 years (%) 5-10 years (%) >10 years (%) Facial feature changes 796621815 Jaw/forehead enlargement 588522416 Tongue size increase 51864208 Bite change5075320

22. Features Pre-Diagnosis: Orofacial Changes Features n (%)<1 year (%) 1-5 years (%) 5-10 years (%) >10 years (%) Facial feature changes 796621815 Jaw/forehead enlargement 588522416 Tongue size increase 51864208 Bite change5075320

23. Features Pre-Diagnosis: Orofacial Changes Features n (%)<1 year (%) 1-5 years (%) 5-10 years (%) >10 years (%) Facial feature changes 796621815 Jaw/forehead enlargement 588522416 Tongue size increase 51864208 Bite change5075320

24. Symptoms Prompting Diagnosis: Noticed by Self vs. Others

25. 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?

26. Mass Effects of Pituitary Tumour  Headaches 54%  Sinus problems 34%  Visual disturbance 32%  Hearing loss 18%

27. Endocrine Disturbance Fatigue 73 % Skin tags 64%Sweating 64% Weight gain 58 %Irregular period 54%Acne/oily skin 47%

28. Endocrine Disturbance Hirsutism 36%Muscle gain 30%Hair loss 28% Height gain 16%Impotence 14%Infertility 11%

29. Co-morbidities Co-morbidity% Arthritis50 Bowel polyps/cancer43 High blood pressure42 High cholesterol41 Obsructive sleep apnoea35 Diabetes/impaired glucose tolerance29 Thyroid problems28 Carpal tunnel syndrome23

30. Co-morbidities Co-morbidity% Arthritis50 Bowel polyps/cancer43 High blood pressure42 High cholesterol41 Obsructive sleep apnoea35 Diabetes/impaired glucose tolerance29 Thyroid problems28 Carpal tunnel syndrome 23

31. Co-morbidities Co-morbidity% Arthritis50 Bowel polyps/cancer43 High blood pressure42 High cholesterol41 Obsructive sleep apnoea35 Diabetes/impaired glucose tolerance29 Thyroid problems28 Carpal tunnel syndrome23

32. Co-morbidities Co-morbidity% Arthritis50 Bowel polyps/cancer43 High blood pressure42 High cholesterol41 Obsructive sleep apnoea35 Diabetes/impaired glucose tolerance29 Thyroid problems28 Carpal tunnel syndrome23

33. Who Prompted Diagnosis?

35. Health Practitioners Seen Pre-Diagnosis  GP 91%  Dentists 42%  Eye specialists 33%  Endocrinologists 31%  Orthopaedic surgeon 24%

36. 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

37. Who Made the Diagnosis? Group% Endocrinologist29 GP (incl. 2 locums)24 ENT surgeon5 Ortho surgeon5 Neurologist3 Sleep specialist3 Other5  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%

38. Who Made the Diagnosis? Group% Endocrinologist29 GP (incl. 2 locums)24 ENT surgeon5 Ortho surgeon5 Neurologist3 Sleep specialist3 Other5  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%

39. Study Limitations  Clinical notes not reviewed re: participant confidentiality  Cross-sectional questionnaire – subject to recall bias

40.  Why is this important?

41. 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

42.  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

43.  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

44. Awareness is Key  Simple but practical approach  Handouts/publications  Awareness campaigns  Close relations with local acromegaly societies  Emphasis in medical curriculum

45. 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

46. Acknowledgements  Participants of the study:  Waikato Endocrine Clinic  New Zealand Acromegaly Society  Dr Catherine Chan  Dr Marianne Elston  Dr Helen Conaglen  Prof John Conaglen

47. THANK YOU