It would indeed be rash for a mere pathologist to venture forth on the uncharted sea of the endocrines, strewn as it is with the wrecks of shattered hypotheses, where even the most wary mariner may easily lose his way as he seeks to steer his bark amid the glandular temptations whose siren voices have proved the downfall of many who have gone before.
William Boyd (1885–1969)
DEATH WITHOUT A DIAGNOSIS FOR CHRONIC FATIGUE
This classic cautionary case about a 16-year-old Western Australian female student serves as a reminder that any of us could be misled by the capricious Addison’s disease. She presented to her general practitioner with four weeks of fatigue and tiredness. Her mother reported that she suffered from malaise and anorexia and had lost weight and seemed prone to ‘pick up any bugs that were going around’. There was no significant past history although she was reportedly diagnosed as having glandular fever six months previously. Physical examination was normal. A series of blood tests, including a full blood examination, was ordered and reported as normal.
Over the next four to five months the patient continued to feel unwell and stopped attending school because she felt so tired and lacked energy for her usual activities including sport. Other reported problems included poor concentration, somnolence, continued loss of weight, anorexia, vomiting (up to five times a week) and syncope during venesection followed by prolonged dizziness. She had several consultations with different practitioners including a mental health assessment but was still without a firm diagnosis. Physical examinations were recorded as ‘unremarkable’ despite a discussion, probably initiated by her father, about skin colour changes.
During her final blood test at the GP’s clinic she fainted and remained too dizzy to return home. She was referred to the local hospital for resuscitation with intravenous fluids. Back at home she remained unwell but refused her parents’ wish to attend for review of her blood tests. Her parents were in the process of taking the by now rather cachexic girl to hospital when she was found dead in bed. The post-mortem examination concluded that the cause of death was adrenal insufficiency due to autoimmune destruction of the adrenal cortex (Bird, 2007a).
More medical brain teasers
I recall seeing a 7-year-old boy in the emergency department of the Children’s Hospital referred from a physician in a provincial city because of two months of dizzy spells and blackouts. I performed a routine blood sugar and found hypoglycaemia. The penny dropped. I went looking for and found hyperpigmentation in the oral mucosa.
Recently I received an email from a British GP saying that it took two and a half years for her Addison’s disease to be diagnosed. Another member of the UK Addison’s Disease Self Help Group waited 15 years to be diagnosed after treatment ...