What is the best course of treatment for a patient with complex I deficiency presenting with hypotension, exhaustion, nausea, diarrhea, and elevated cortisol with adrenocorticotropic hormone (ACTH) levels, despite no apparent stress?

Management of Adrenal Crisis in a Patient with Complex I Deficiency

The patient with complex I deficiency presenting with hypotension, exhaustion, nausea, diarrhea, and elevated cortisol with ACTH of 16 is experiencing an adrenal crisis and requires immediate treatment with IV hydrocortisone 100 mg bolus followed by fluid resuscitation with normal saline. 1

Initial Emergency Management

• Administer hydrocortisone 100 mg IV bolus immediately without delay for further diagnostic testing 1
• Begin rapid IV fluid resuscitation with normal saline (1 L over the first hour, followed by 2-3 additional liters at a slower rate) 1
• Draw blood for cortisol, ACTH, electrolytes, glucose, and tests for precipitating causes (e.g., infections) but do not wait for results before initiating treatment 1
• Monitor vital signs, particularly blood pressure and heart rate, frequently 1

Continued Hospital Management

• Continue IV hydrocortisone at 50-100 mg every 6-8 hours for the first 24 hours 1
• Monitor electrolytes, particularly sodium and potassium levels 1
• Evaluate for and treat the precipitating cause (likely infection given the diarrhea) 1, 2
• Consider admission to intensive care or high-dependency unit based on hemodynamic stability 1

Transition to Maintenance Therapy

• After 24-48 hours of IV therapy and clinical improvement, taper stress-dose corticosteroids over 3-5 days 1
• Transition to oral maintenance therapy with hydrocortisone 15-20 mg daily in divided doses (typically 2/3 in morning, 1/3 in early afternoon) 1, 3
• Assess need for mineralocorticoid replacement (fludrocortisone 0.05-0.1 mg daily) when hydrocortisone dose falls below 50 mg daily 1
• Consider endocrinology consultation for long-term management 1

Special Considerations for Complex I Deficiency

• Patients with mitochondrial disorders like complex I deficiency are particularly vulnerable to metabolic decompensation during physiologic stress 3
• Even without apparent external stressors, these patients can develop adrenal insufficiency due to increased metabolic demands 3, 2
• The combination of elevated cortisol with normal ACTH suggests the body is attempting to compensate for increased metabolic stress 3

Prevention of Future Adrenal Crises

• Provide patient education on stress dosing during illness (typically 2-3 times maintenance dose) 1
• Prescribe emergency injectable hydrocortisone kit and provide training on self-administration 1, 2
• Recommend medical alert bracelet or necklace for adrenal insufficiency 1
• Schedule regular follow-up to assess adequacy of maintenance therapy 1

Monitoring Parameters

• Assess clinical symptoms: energy level, appetite, weight stability 1
• Monitor blood pressure (including postural measurements) 1
• Check electrolytes periodically 1
• Consider morning cortisol measurements to evaluate adequacy of replacement 1, 3

Common Pitfalls to Avoid

• Delaying treatment while waiting for diagnostic confirmation can be fatal 1
• Inadequate fluid resuscitation alongside corticosteroid administration 1
• Failure to identify and treat the precipitating cause of adrenal crisis 1, 2
• Tapering corticosteroids too quickly before clinical stabilization 1
• Overlooking the need for mineralocorticoid replacement in primary adrenal insufficiency 1