BACKGROUND: Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited renal disorder, typically presenting with hypertension, hematuria, or progressive renal dysfunction. However, it can have a broad range of initial presentations and, in uncommon cases, may mimic other abdominal disorders. This report presents a case of ADPKD manifesting as an epigastric mass in a patient without a family history, highlighting its importance in the differential diagnosis of upper abdominal masses.

CASE REPORT: A 62-year-old woman presented to our primary care clinic with a 5-day history of a painless epigastric mass and right hypochondriac pain. She had hypertension and dyslipidemia, without a known family history of ADPKD. On examination, a firm mass was palpable in the epigastrium, accompanied by hepatomegaly. Laboratory investigations revealed mild renal insufficiency, microscopic hematuria, and proteinuria. The patient underwent abdominal ultrasonography and contrast-enhanced computed tomography, which demonstrated multiple cysts in both kidneys and the liver, consistent with ADPKD. She was evaluated by the hepatobiliary surgery team, who recommended symptomatic management. She was also assessed by the nephrology team; further evaluation for associated complications, including mitral valve prolapse and intracranial aneurysms, yielded normal findings. She continues regular follow-up with the primary care and nephrology teams for blood pressure optimization and renal function monitoring.

CONCLUSIONS: This case highlights the need to consider ADPKD in patients who present with upper abdominal masses. Early imaging and a multidisciplinary evaluation are essential for establishing an accurate diagnosis and ensuring appropriate management, particularly in patients without a clear family history.

Keywords: autosomal dominant polycystic kidney disease, Case Reports, Hepatomegaly, Tomography, X-Ray Computed, Ultrasonography