Case report reveals gonadal vein thrombosis in a patient with acute intermittent porphyria, suggesting the need for awareness of rare thrombotic complications.
Acute intermittent porphyria (AIP) is a rare metabolic disorder characterized by neurovisceral manifestations, most commonly severe abdominal pain. Thrombotic complications are not typically associated with AIP and are infrequently reported in atypical venous territories. Gonadal vein thrombosis (GVT) is an uncommon condition most frequently observed in the postpartum period or in association with pelvic infections and malignancy; its occurrence in patients with AIP is exceptionally rare. GVT is a potentially serious form of deep vein thrombosis, often underdiagnosed due to its nonspecific presentation. We report the case of a 53-year-old woman with genetically confirmed AIP, a history of recurrent venous thromboembolism, and poorly controlled type 2 diabetes mellitus, who presented with acute lower abdominal pain radiating to the groin and back, accompanied by gastrointestinal symptoms. Contrast-enhanced computed tomography demonstrated an acute right GVT and a concurrent nonocclusive pulmonary embolism. Initial laboratory investigations revealed hyponatremia, mild transaminitis, and hyperglycemia. The overlapping abdominal manifestations of AIP initially complicated the diagnostic process; however, the presence of focal groin and back pain prompted further evaluation, leading to a timely diagnosis. The patient was managed with porphyria-safe antibiotics, therapeutic anticoagulation, and supportive care, resulting in clinical improvement. This case underscores the importance of maintaining a high index of suspicion for uncommon thrombotic complications in patients with AIP who present with new or atypical pain patterns. Early recognition and careful selection of porphyria-safe therapeutic strategies are critical to prevent complications and optimize clinical outcomes.
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Goranti et al. (2026) studied this question.
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