Presentations
- Abdominal pain
- Acquired low bone mass
- Altered cognition
- Asymptomatic with incidental findings
- Bone pain
- Cardiac arrythmias
- Constipation
- Fractures
- Long bone deformities
- Nausea and vomiting
- Paraesthesia
- Renal stones
- Tetany and/or cramping
Conditions
- Bone disorders:
-
osteoporosis:
- primary, including osteogenesis imperfecta
-
secondary to other primary conditions or treatments:
- endocrine disorders
- infective or inflammatory conditions
- malignancy
- neuromuscular conditions
- Disorders of phosphate metabolism:
- FGF23 independent
- FGF23 mediated, such as XLH
- Hypercalcaemia:
- calcium-sensing receptor mutations
- hyperparathyroidism jaw-tumour syndrome
-
parathyroid hormone-dependent hypercalcaemia – hyperparathyroidism:
-
hyperparathyroidism due to underlying genetic disorder:
- familial hypercalcaemic hypocalciuria
- familial isolated idiopathic
- MEN1
- MEN2
- primary
- tertiary
- parathyroid hormone-independent hypercalcaemia:
- granulomatous disease
- idiopathic infantile hypercalcaemia
- immobility
- malignancy-related osteolysis
- milk-alkali syndrome
- sarcoidosis
- subcutaneous fat necrosis
- vitamin D excess
- Williams syndrome
- Hypocalcaemia:
- calcium-sensing receptor mutations
- hypoparathyroidism:
- acquired
- associated with genetic condition or syndrome:
- autoimmune polyglandular syndrome (APS) type 1
- congenital
- post-operative:
- parathyroidectomy
- thyroidectomy
- primary disorders of vitamin D metabolism and vitamin D receptor
- pseudohypoparathyroidism
- vitamin D deficiency
- Medication-related:
- fibrous dysplasia:
- rickets:
For each presentation and condition, Advanced Trainees will know how to:
Synthesise
- recognise the clinical presentation
- identify relevant epidemiology, prevalence, pathophysiology, and clinical science
- take a comprehensive clinical history
- conduct an appropriate examination
- establish a differential diagnosis
- plan and arrange appropriate investigations
- consider the impact of illness and disease on patients and their quality of life when developing a management plan
Manage
- provide evidence-based management
- prescribe therapies tailored to patients' needs and conditions
- recognise potential complications of disease and its management, and initiate preventative strategies
- involve multidisciplinary teams
Consider other factors
- identify individual and social factors and the impact of these on diagnosis and management
Conditions
- Hypophosphataemia:
- Osteopetrosis
- Parathyroid adenoma / carcinoma
For each presentation and condition, Advanced Trainees will know how to:
Synthesise
- recognise the clinical presentation
- identify relevant epidemiology, prevalence, pathophysiology, and clinical science
- take a comprehensive clinical history
- conduct an appropriate examination
- establish a differential diagnosis
- plan and arrange appropriate investigations
- consider the impact of illness and disease on patients and their quality of life when developing a management plan
Manage
- provide evidence-based management
- prescribe therapies tailored to patients' needs and conditions
- recognise potential complications of disease and its management, and initiate preventative strategies
- involve multidisciplinary teams
Consider other factors
- identify individual and social factors and the impact of these on diagnosis and management
Inherited disorders / Disorders with a genetic basis
- Incidence and prevalence of conditions in the Australian population
- Recognise and screen for the possibility of known genetic variants causing pathology
- Referral for genetic counselling, wherever needed
- Screening for associated pathology in known inherited disorders
- Screening of family members, when indicated
Therapeutics
- Best practice and individualised approach of anabolic and anti-resorptive bone medications, including knowledge of benefits, indications, risks, and side effects
- Importance of taking preventative action to avoid or mitigate risk of adverse events from available pharmaceutical agents
- Management principles of:
- acute and/or severe hypercalcaemia
- hyperparathyroidism with medical therapies, when appropriate
- phosphataemic
- phosphophenic rickets, such as:
- calcitriol
- monoclonal antibody therapy
- phosphate replacement
- vitamin D deficiency
Clinical assessment
- Identify and refer patients for surgery where appropriate:
- provide perioperative care in patients undergoing parathyroid or thyroid surgery
- triage patients with indications for surgical intervention according to condition severity
- Monitoring disease activity
- Monitoring response to therapy
Imaging
- Bone mineral density, including:
- considerations for patient’s age, pubertal stage, and size
- use of Z-scores, not T-scores, in children
- usefulness and limitations
- Localisation of parathyroid adenoma / cancer
- Plain x-rays:
- pQCT
- rickets
- skeletal survey
- Renal ultrasound:
- 4D CT
- neck ultrasound for parathyroid disease
- sestamibi scanning for parathyroid adenoma localisation
Laboratory tests
- 1,25 OH vitamin D level
- 24-hour collections for urinary calcium:
- spot calcium – creatinine ratio
- 25 hydroxyvitamin D level
- Bone-specific ALP
- Bone turnover markers
- Calcium – corrected and ionised
- Electrolytes
- FGF-23
- Genetic testing
- Liver function tests
- Magnesium
- Parathyroid hormone (PTH)
- Phosphate
- Renal function
- Screening for secondary causes of osteoporosis, including:
- ACTH and cortisol
- acute leukaemia
- coeliac disease and other malabsorptive conditions
- hypogonadism
- TFTs
- Urine phosphate – creatinine ratio and tubular reabsorption of phosphate (TRP)
Evidence-based practice
- Evidence for best practice and application of this, using clinical judgement and individual circumstances, in partnership with patients
Management considerations
- Antenatal counselling
- Conservative management according to individualised care
- Counsel patients with up-to-date best practice guidelines for dietary, exercise, and lifestyle recommendations
- Environmentally sustainable practices in clinical care
- Genetic counselling
- Incorporate a multidisciplinary approach to treatment, and refer appropriately
- Understand the causes and treatment strategies (including preventative strategies) for children with a chronic condition impacting bone health
