Endocrine Abstracts

Background: Primary adrenal insufficiency (Addison’s disease) is rare but potentially life-threatening if unrecognized. Typical features include fatigue, nausea, weight loss, hyponatraemia, hyperkalaemia, and grey-slate hyperpigmentation. Management is lifelong, requiring individualized glucocorticoid and mineralocorticoid replacement, ongoing monitoring for psychological stress, and vigilance for long-term steroid-related complications. Early recognition in routine clinical practice is crucial to prevent adrenal crises and optimize quality of life as often patients present with nonspecific symptoms such as fatigue, weight loss, and gastrointestinal upset. Diagnostic delay is common, and missed opportunities can worsen morbidity.

Case: A 41-year-old man presented with two weeks of extreme fatigue, nausea, vomiting, and a 1.5-stone weight loss. Initially, he had presented to the emergency department but was discharged, attributing symptoms to gastrointestinal upset. He presented again severely unwell. Examination revealed grey-slate hyperpigmentation, borderline low BP, and tachycardia. Laboratory evaluation showed hyponatraemia (Na 129 mmol/l) and hyperkalaemia (K 5.4 mmol/l), prompting a 9 AM cortisol of 224 nmol/l. Inadequate response to Short Synacthen testing (baseline 230, 30 min 218, 60 min 192 nmol/l) confirmed primary adrenal insufficiency with markedly elevated ACTH (927 ng/l). Adrenal antibodies were negative. He was initially treated with IV hydrocortisone and fluids, transitioned to oral hydrocortisone 20–10–10 mg daily with fludrocortisone 100 mg, and educated on sick-day rules and emergency steroid use. First outpatient review showed normalized electrolytes and improved appetite, prompting taper to 10–5–5 mg daily and continued fludrocortisone 100 mg daily. At the second follow-up, despite normalized electrolytes, he reported ongoing profound fatigue and psychological distress, impairing daily functioning and family life. He was unable to push a shopping trolley, shower without resting for the entire day, or perform work duties, relying heavily on his wife as carer. Severe brain fog, memory difficulties, erectile dysfunction, and disturbed family dynamics highlighted the substantial psychosocial burden of lifelong adrenal insufficiency. Due to ongoing distress and functional impairment, hydrocortisone was increased to four daily doses (12.5–7.5–5–2.5 mg) and fludrocortisone to 150 mg daily, resulting in symptomatic improvement. Discussions addressed long-term risks of chronic glucocorticoid therapy, including metabolic, cardiovascular, and musculoskeletal complications, emphasizing the need for ongoing multidisciplinary care and regular reassessment.

Conclusion: Management of Addison’s disease is dynamic and lifelong. Biochemical stability alone is insufficient; therapy should be individualized according to symptoms, functional capacity, and psychosocial impact. Regular monitoring, patient education, and early recognition of physiological and psychological challenges are essential to prevent adrenal crises and optimize quality of life. Referral can be made to the Addison’s Disease Self-Help Group UK, where practical advice, support, and shared experiences are offered, helping patients cope long-term and enhancing overall quality of life.