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Tuberous sclerosis renal angiomyolipoma — ESENeph MCQ

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HardInherited and Rare Renal DiseaseTuberous sclerosis renal angiomyolipomaESENeph

A 35-year-old woman with tuberous sclerosis has flank discomfort. MRI shows bilateral renal angiomyolipomas, the largest measuring 5.2 cm, with aneurysmal vascular components. eGFR is 84 mL/min/1.73 m² and urinalysis is negative. What is the most appropriate management?

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Correct answer: C — Refer for treatment to reduce haemorrhage risk

Large angiomyolipomas in tuberous sclerosis, particularly with aneurysmal components, carry haemorrhage risk and need specialist management such as embolisation or mTOR inhibitor therapy depending on context. Biopsy is usually avoided because imaging is characteristic and bleeding risk exists. Routine nephrectomy is kidney-sacrificing and not first-line for bilateral disease. The pearl is that preserving renal function is central because lesions are often multiple and bilateral.

Reference: Tuberous Sclerosis Complex Consensus guidance; Renal Medicine 2022 Curriculum