Text Size  A-  A  A+


Annual Review

Good medical practice involves a clear history, physical examination and investigation in any out-patient review.

History from Alström person and family

  • General well-being
  • Psychology – adjustment to condition
  • Mobility
  • Eyesight and visual aids – Braille, IT
  • Hearing and appropriate hearing aids
  • Growth and development
  • Diet and exercise assessment

Ask if there is any:

  • Shortness of breath
  • Tiredness
  • Problems with passing water
  • Heartburn
  • What treatments are being taken?

Examination

  • Observe mobility
  • Assess spine
  • Weight, height, blood pressure
  • Acanthosis nigricans (darkening and increase in thickness of cells in the skin)
  • Condition of feet
  • Listen to heart and lungs
  • Palpate abdomen

Investigation

Blood:

  • Urea, creatinine and electrolytes
  • Full blood count
  • Liver function tests
  • Haemoglobin A1c
  • Post prandial C-peptide and blood glucose
  • Serum triglycerides and cholesterol
  • Thyroid function
  • Oestrogen or testosterone, FSH and LH
  • Brain natriuretic peptide

Imaging:

  • Bladder scan post micturition (after the passage of urine) if urinary symptoms
  • ECG
  • Echocardiogram
  • Cardiac magnetic resonance imaging annually from adolescence
  • Respiratory function
  • Liver scan

Respiratory Function

From seven years and older standard respiratory function tests:

  • Peak Flow
  • Forced Expiratory Volume in 1 second (FEV)
  • Forced Vital Capacity (FVC)
  • FEV1/FVC ratio
  • Digital oximetry at rest and after a five-minute walk

Top of Page

Media Reviewed: August 2015
Next Review: August 2017