Acromegaly: Awareness among Health Care Practitioners Redzuan Zarool Hassan, Marianne S Elston Helen 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 Delay in diagnosis 5–10 yrs after symptom onset Rajasoorya et al. 1994
Awareness amongst Healthcare Practitioners No reduction in delay of diagnosis 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 Multiple comorbidities Heart disease, stroke, diabetes, arthritis, vision problems, sleep apnoea Acromegaly & Body Image study Conaglen, Elston et al. 2015
Questionnaire Paper & online survey 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
Demographics Gender n =81
Age at Data Collection
Age at Diagnosis
Period with Symptoms before Diagnosis
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 Hand enlargement Glove tightness
Features Pre-Diagnosis: Acral Changes Features n (%)<1 year (%) 1-5 years (%) 5-10 years (%) >10 years (%) Foot enlargement Hand enlargement Glove tightness
Features Pre-Diagnosis: Acral Changes Features n (%)<1 year (%) 1-5 years (%) 5-10 years (%) >10 years (%) Foot enlargement Hand enlargement Glove tightness
Features Pre-Diagnosis: Orofacial Changes Features n (%)<1 year (%) 1-5 years (%) 5-10 years (%) >10 years (%) Facial feature changes Jaw/forehead enlargement Tongue size increase Bite change
Features Pre-Diagnosis: Orofacial Changes Features n (%)<1 year (%) 1-5 years (%) 5-10 years (%) >10 years (%) Facial feature changes Jaw/forehead enlargement Tongue size increase Bite change
Features Pre-Diagnosis: Orofacial Changes Features n (%)<1 year (%) 1-5 years (%) 5-10 years (%) >10 years (%) Facial feature changes Jaw/forehead enlargement Tongue size increase Bite change
Symptoms Prompting Diagnosis: Noticed by Self vs. Others
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% Arthritis50 Bowel polyps/cancer43 High blood pressure42 High cholesterol41 Obsructive sleep apnoea35 Diabetes/impaired glucose tolerance29 Thyroid problems28 Carpal tunnel syndrome23
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
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
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
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% 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%
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%
Study Limitations Clinical notes not reviewed re: participant confidentiality Cross-sectional questionnaire – subject to recall bias
Why is this important?
Importance of Early Recognition GH level normalisation reduces overall mortality risk Holdaway et al 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
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