Case Report: a family presenting with β-adrenergic/vasopressin-responsive bilateral macronodular adrenal disease with an ARMC5 mutation treated with metyrapone monotherapy for more than 5 years - Report - MDSpire
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Family Case Study: β-adrenergic and vasopressin-responsive bilateral macronodular adrenal disease associated with an ARMC5 mutation successfully managed with metyrapone monotherapy for over five years
Clinical Report: β-adrenergic and vasopressin-responsive bilateral macronodular adrenal disease
Background
Bilateral macronodular adrenal disease (BMAD) is a rare cause of Cushing’s syndrome, accounting for less than 2% of endogenous cases. Familial cases have become more recognized. Understanding the genetic basis and treatment options for BMAD is crucial for managing affected patients.
Data Highlights
No numerical data or trial data is provided in the source material.
Key Findings
BMAD is characterized by multiple large nodules in both adrenal glands, leading to excessive cortisol production.
ARMC5 mutations are implicated in approximately 80% of familial BMAD cases.
Metyrapone monotherapy was effective in achieving biochemical control in both familial cases reported.
One patient developed progressive hypokalemia, necessitating unilateral adrenalectomy.
Close monitoring is essential for potential complications during metyrapone treatment.
Clinical Implications
Clinicians should monitor for complications such as hypokalemia during metyrapone therapy.
Conclusion
Careful patient monitoring is necessary during treatment.
