{"paper_id":"f2f2d5ec-b43c-43f6-9475-5a78623f0c2a","body_text":"Review began\n 02/20/2026 \nReview ended\n 03/17/2026 \nPublished\n 03/19/2026\n© Copyright \n2026\nGoranti et al. This is an open access article\ndistributed under the terms of the Creative\nCommons Attribution License CC-BY 4.0.,\nwhich permits unrestricted use, distribution,\nand reproduction in any medium, provided\nthe original author and source are credited.\nDOI:\n 10.7759/cureus.105498\nRight Gonadal Vein Thrombosis in Acute\nIntermittent Porphyria: A Rare Thrombotic\nComplication\nJyothsna Goranti \n, \nDaniel Neri Rosario \n, \nKelly Chohonis \n1.\n Internal Medicine, Texas Tech University Health Sciences Center El Paso, El Paso, USA\nCorresponding author: \nJyothsna Goranti, \njyo.goranti@gmail.com\nAbstract\nAcute intermittent porphyria (AIP) is a rare metabolic disorder characterized by neurovisceral\nmanifestations, most commonly severe abdominal pain. Thrombotic complications are not typically\nassociated with AIP and are infrequently reported in atypical venous territories. Gonadal vein thrombosis\n(GVT) is an uncommon condition most frequently observed in the postpartum period or in association with\npelvic infections and malignancy; its occurrence in patients with AIP is exceptionally rare. GVT is a\npotentially serious form of deep vein thrombosis, often underdiagnosed due to its nonspecific presentation.\nWe report the case of a 53-year-old woman with genetically confirmed AIP, a history of recurrent venous\nthromboembolism, and poorly controlled type 2 diabetes mellitus, who presented with acute lower\nabdominal pain radiating to the groin and back, accompanied by gastrointestinal symptoms. Contrast-\nenhanced computed tomography demonstrated an acute right GVT and a concurrent nonocclusive\npulmonary embolism. Initial laboratory investigations revealed hyponatremia, mild transaminitis, and\nhyperglycemia. The overlapping abdominal manifestations of AIP initially complicated the diagnostic\nprocess; however, the presence of focal groin and back pain prompted further evaluation, leading to a timely\ndiagnosis. The patient was managed with porphyria-safe antibiotics, therapeutic anticoagulation, and\nsupportive care, resulting in clinical improvement. This case underscores the importance of maintaining a\nhigh index of suspicion for uncommon thrombotic complications in patients with AIP who present with new\nor atypical pain patterns. Early recognition and careful selection of porphyria-safe therapeutic strategies are\ncritical to prevent complications and optimize clinical outcomes.\nCategories:\n Radiology, Medical Education, Internal Medicine\nKeywords:\n acute intermittent porphyria, anticoagulation, differential diagnosis for abdominal pain, gonadal vein\nthrombosis, porphyria-safe antibiotics, pulmonary embolism (pe), septic pelvic thrombophlebitis, venous\nthromboembolism (vte)\nIntroduction\nAcute intermittent porphyria (AIP) is a rare autosomal dominant disorder classified among a group of\ninherited genetic disorders characterized by defective enzymes of the heme biosynthesis pathway,\ncollectively referred to as porphyrias \n[1]\n. According to the European Porphyria Network (EPNET), the\nprevalence of AIP in Europe is estimated to be approximately 1 in 20,000 individuals \n[2,3]\n. In Euro-Western\npopulations, the prevalence of a disease-causing mutation is estimated to be 1 in 2,000; however, the\nprevalence of clinically symptomatic disease is significantly lower, ranging from 0.5 to 10 per 100,000\nindividuals \n[1,4,5]\n. Women are more frequently affected than men, with a reported female-to-male ratio\nranging from 1.5:1 to 2:1, and symptoms most commonly manifest between the ages of 20 and 40 years \n[1,5]\n.\nAIP is caused by a deficiency of porphobilinogen deaminase (PBGD), also known as hydroxymethylbilane\nsynthase (HMBS), the third enzyme in the heme biosynthesis pathway. This enzyme defect leads to the\naccumulation of neurotoxic heme precursors such as aminolevulinic acid (ALA) and porphobilinogen (PBG)\n[1,5]\n. Despite its autosomal dominant inheritance, clinical penetrance is low, and approximately 80-90% of\nindividuals carrying an \nHMBS\n mutation remain asymptomatic \n[4,5]\n. Acute attacks may be precipitated by\nvarious triggers, including infections, fasting, a low-carbohydrate diet, alcohol consumption, or hormonal\nfluctuations, and certain medications, all of which increase hepatic ALA synthase activity and subsequent\nprecursor accumulation \n[5]\n.\nThe clinical manifestations of AIP are heterogeneous, ranging from mild and infrequent episodes to severe,\nlife-threatening attacks. Abdominal pain is the cardinal symptom, occurring in more than 80% of patients,\nand is frequently accompanied by nausea, vomiting, and constipation \n[1,3]\n. Additional manifestations may\ninclude hyponatremia, muscle weakness, peripheral neuropathy, neuropsychiatric disturbances, autonomic\ndysfunction, and, less commonly, fever \n[1,4]\n. Long-term complications include chronic kidney disease,\nhepatocellular carcinoma, persistent neuropathy, and chronic pain syndromes \n[4,5]\n. Although thrombotic\ncomplications are not typical features of AIP, they may occur secondary to factors such as central venous\ncatheterization, immobility, infection, or underlying hypercoagulable states \n[6,7]\n.\n1\n1\n1\n \nOpen Access Case Report\nHow to cite this article\nGoranti J, Neri Rosario D, Chohonis K (March 19, 2026) Right Gonadal Vein Thrombosis in Acute Intermittent Porphyria: A Rare Thrombotic\nComplication. Cureus 18(3): e105498. \nDOI 10.7759/cureus.105498\n\nGonadal vein thrombosis (GVT) is an uncommon condition most frequently reported in the postpartum\nperiod or in association with sepsis, pelvic infections, malignancy, and systemic hypercoagulable disorders\n[6,7]\n. While rare, GVT can lead to serious complications, including extension into the inferior vena cava or\npulmonary embolism if not promptly recognized and treated \n[7]\n. Clinical presentation is often nonspecific\nand may mimic other causes of acute abdominal or pelvic pain, contributing to delayed diagnosis. Notably,\napproximately 80-90% of cases involve the right gonadal vein \n[7]\n.\nWe present a rare case of acute right GVT in a patient with AIP and recurrent deep vein thromboses (DVTs),\nhighlighting the diagnostic challenges posed by overlapping abdominal symptoms and the complexities of\nmanaging thromboembolic disease in the context of porphyria.\nCase Presentation\nA 53-year-old woman with a known history of AIP, recurrent DVTs, and poorly controlled type 2 diabetes\nmellitus presented with a one-week history of progressively worsening lower abdominal pain radiating to the\nright groin and back. The pain was sharp, constant, and gradually intensifying. Associated symptoms\nincluded nausea and diarrhea for three days, fever for two days, and vomiting for one day. The patient\ninitially believed she was experiencing an AIP flare, as the abdominal discomfort resembled prior episodes.\nShe also reported recurrent brown blistering skin lesions over the lower abdomen during previous attacks.\nDuring this admission, she noted an ulcerated lesion in the right lower abdominal region, where the pain was\nmost pronounced.\nOn arrival, she was febrile but hemodynamically stable. Physical examination revealed a non-distended\nabdomen with diffuse tenderness to palpation, most severe in the right groin region. Dermatologic\nexamination demonstrated multiple circular hyperpigmented macular lesions over the lower abdomen, as\nwell as an ulcerated lesion in the right lower quadrant without purulent drainage or surrounding fluctuance.\nThe detailed laboratory findings obtained on admission are summarized in Table \n1\n.\nLaboratory test\nPatient value\nReference range\nWhite blood cell count\n8.7 × 10\n⁹\n/L\n4.0–11.0 × 10\n⁹\n/L\nHemoglobin\n16.2 g/dL\n12.0–15.5 g/dL (female)\nPlatelet count\n271 × 10\n⁹\n/L\n150–400 × 10\n⁹\n/L\nSodium\n129 mEq/L\n135–145 mEq/L\nCorrected sodium\n132 mEq/L\n135–145 mEq/L\nPotassium\n3.6 mEq/L\n3.5–5.0 mEq/L\nCreatinine\n0.7 mg/dL\n0.6–1.1 mg/dL (female)\nGlucose\n348 mg/dL\n70–100 mg/dL (fasting)\nHbA1c\n12.1%\n<5.7% (normal)\nAST\n44 U/L\n10–40 U/L\nALT\n38 U/L\n7–35 U/L\nAlkaline phosphatase\n128 U/L\n44–147 U/L\nLactate\n1.2 mmol/L\n0.5–2.2 mmol/L\nUrinalysis – glucose\n4+\nNegative\nUrinalysis – urobilinogen\nNormal\n0.2–1.0 EU/dL\nTABLE\n 1: Laboratory findings on admission.\nALT: alanine transaminase; AST: aspartate transaminase\nContrast-enhanced computed tomography (CT) of the abdomen and pelvis revealed an acute right GVT\n(Figure \n1\n), significant attenuation of the external iliac veins, and extensive venous collaterals within the\nabdominal wall and inguinal region. CT angiography (CTA) of the chest demonstrated an acute, nonocclusive\npulmonary embolism involving segmental branches of the right lower lobe, with a right\nventricular/left ventricular ratio <1 and no evidence of right heart strain (Figure \n2\n).\n \n2026 Goranti et al. Cureus 18(3): e105498. DOI 10.7759/cureus.105498\n2\n of \n5\n\nFIGURE\n 1: Contrast-enhanced computed tomography (CT) of the\nabdomen showing acute right gonadal vein thrombosis.\nCoronal contrast-enhanced CT image demonstrating a filling defect within the right gonadal vein (yellow arrow),\nconsistent with acute thrombosis.\nFIGURE\n 2: Contrast-enhanced computed tomography (CT) pulmonary\nangiography demonstrating acute pulmonary embolism.\nAxial CT pulmonary angiography image showing a nonocclusive filling defect within a segmental branch of the\nright lower lobe pulmonary artery (arrow), consistent with acute pulmonary embolism. No evidence of right heart\nstrain is observed.\nGiven the presence of fever and examination findings, septic pelvic thrombophlebitis was initially\nsuspected, and obstetrics/gynecology was consulted. Therapeutic anticoagulation with enoxaparin 90 mg\ntwice daily was initiated.\n \n2026 Goranti et al. Cureus 18(3): e105498. DOI 10.7759/cureus.105498\n3\n of \n5\n\nDue to persistent fever and tenderness over the abdominal ulcer, empiric antibiotic therapy with vancomycin\nand ampicillin-sulbactam was initiated; both agents were selected based on their safety profile in AIP.\nHowever, blood cultures remained negative, no clear infectious source was identified, and antibiotics were\nsubsequently discontinued once an infectious etiology was excluded. Pain management was challenging due\nto her porphyria; however, she was safely treated with intravenous hydromorphone and acetaminophen. Her\npoorly controlled diabetes mellitus was addressed with initiation of basal insulin (glargine) and sliding-scale\ninsulin therapy.\nDuring hospitalization, her abdominal and back pain gradually improved with anticoagulation and\nsupportive care. Fever resolved, and blood cultures remained negative. Given her history of recurrent\nthrombosis and evidence of chronic venous remodeling, long-term anticoagulation was indicated. She was\ntransitioned to warfarin 5 mg daily (considered safe in prophyria), with a short five to seven-day apixaban\nbridge to maintain therapeutic anticoagulation while awaiting international normalized ratio stabilization.\nShe was discharged in stable condition with close outpatient follow-up arranged with hematology,\ngynecology, and a porphyria specialty clinic.\nDiscussion\nThis case illustrates a rare presentation of right GVT in a patient with AIP. Although this specific\nmanifestation is uncommon, other thrombotic complications have been described in porphyria, including\ninferior vena cava (IVC) thrombosis \n[8]\n. Because AIP is primarily recognized for its neurovisceral\nmanifestations, the potential association with venous thromboembolism (VTE) may be underappreciated,\ncontributing to delayed recognition and misdiagnosis \n[5,7]\n. Emerging evidence suggests that patients with\nAIP may have an increased thrombotic risk, possibly related to metabolic and prothrombotic mechanisms\nsuch as hyperhomocysteinemia \n[9]\n. In the present case, the presence of focal groin and back pain, distinct\nfrom her prior AIP episodes, prompted further evaluation and ultimately led to the correct diagnosis.\nGVT is most commonly associated with the postpartum state, pelvic malignancies, or systemic\nhypercoagulable conditions \n[7,8]\n. In this patient, a history of recurrent DVTs likely contributed to an\nunderlying prothrombotic milieu, predisposing her to this atypical thrombotic event. A comprehensive\nthrombophilia workup was not performed in this case, which limits the ability to fully exclude underlying\ninherited or acquired hypercoagulable conditions contributing to her recurrent thrombotic events. However,\nher prior thrombotic history and acute illness likely contributed to a prothrombotic state. A retrospective\ncohort study by Alsharif et al. \n[6]\n in non-porphyria patients demonstrated that GVT may be complicated by\npulmonary embolism and thrombus propagation into the IVC, both of which underscore the clinical\nsignificance of early diagnosis. Contrast-enhanced CT remains the diagnostic modality of choice due to its\nhigh sensitivity and ability to evaluate for concurrent complications. Alternative imaging modalities,\nincluding magnetic resonance venography and duplex ultrasonography, may be considered when contrast\nadministration is contraindicated \n[10]\n.\nThe nonspecific presentation of AIP frequently leads to diagnostic delays \n[11]\n. Measurement of urinary PBG\nand ALA during symptomatic periods remains the cornerstone of diagnosing acute attacks \n[5,12]\n. Genetic\ntesting for mutations in the \nHMBS\n gene provides definitive confirmation and facilitates screening of at-risk\nfamily members \n[4]\n. Early identification of asymptomatic carriers enables counseling on trigger avoidance\nand preventive strategies \n[5]\n.\nManagement of AIP requires prompt recognition, avoidance of precipitating factors, and careful medication\nselection \n[13]\n. Many commonly used antibiotics and analgesics are porphyrinogenic and may precipitate\nsevere attacks \n[14]\n. In this case, vancomycin and ampicillin-sulbactam were selected due to their favorable\nsafety profile in AIP; however, antibiotics were discontinued once an infectious etiology was excluded.\nIntravenous hemin remains the treatment of choice for acute attacks, as it suppresses hepatic ALA synthase\nactivity and reduces the accumulation of neurotoxic intermediates \n[1]\n. Intravenous glucose may serve as\nadjunctive therapy in mild attacks \n[13]\n. For patients with recurrent attacks, givosiran, an RNA interference\ntherapy targeting hepatic ALA synthase 1, has demonstrated efficacy in reducing attack frequency \n[15,16]\n.\nManagement considerations in this patient extended beyond control of AIP. The presence of recurrent\nthrombosis and an atypical thrombotic site warranted long-term anticoagulation. A comprehensive VTE risk\nassessment is essential in patients with AIP who develop thrombotic events, particularly when additional\nrisk factors are present. Given the limited data regarding thrombotic risk in AIP, further research is needed to\nclarify the mechanisms underlying hypercoagulability in this population and to identify biomarkers that may\nguide risk stratification and prophylactic strategies.\nConclusions\nThis case underscores the importance of maintaining a high index of suspicion for GVT in patients with AIP\nwho present with new, unexplained lower abdominal or groin pain. The overlap between typical AIP\nsymptoms and manifestations of VTE can obscure diagnosis, potentially delaying appropriate management.\nGiven the complexity of treating AIP in the setting of concurrent thromboembolic disease, a\nmultidisciplinary approach is essential. Recognition of atypical thrombotic sites and careful selection of\n \n2026 Goranti et al. Cureus 18(3): e105498. DOI 10.7759/cureus.105498\n4\n of \n5\n\nporphyria-safe therapeutic agents are critical for timely intervention and optimal clinical outcomes.\nAdditional Information\nAuthor Contributions\nAll authors have reviewed the final version to be published and agreed to be accountable for all aspects of the\nwork.\nConcept and design:\n  \nJyothsna Goranti, Daniel Neri Rosario, Kelly Chohonis\nAcquisition, analysis, or interpretation of data:\n  \nJyothsna Goranti, Daniel Neri Rosario, Kelly Chohonis\nDrafting of the manuscript:\n  \nJyothsna Goranti, Daniel Neri Rosario, Kelly Chohonis\nCritical review of the manuscript for important intellectual content:\n  \nJyothsna Goranti, Daniel Neri\nRosario, Kelly Chohonis\nSupervision:\n  \nJyothsna Goranti, Daniel Neri Rosario, Kelly Chohonis\nDisclosures\nHuman subjects:\n Informed consent for treatment and open access publication was obtained or waived by all\nparticipants in this study. \nConflicts of interest:\n In compliance with the ICMJE uniform disclosure form, all\nauthors declare the following: \nPayment/services info:\n All authors have declared that no financial support\nwas received from any organization for the submitted work. \nFinancial relationships:\n All authors have\ndeclared that they have no financial relationships at present or within the previous three years with any\norganizations that might have an interest in the submitted work. \nOther relationships:\n All authors have\ndeclared that there are no other relationships or activities that could appear to have influenced the\nsubmitted work.\nReferences\n1\n. \nStölzel U, Doss MO, Schuppan D: \nClinical guide and update on porphyrias\n. Gastroenterology. 2019, 157:365-\n81.e4. \n10.1053/j.gastro.2019.04.050\n2\n. \nElder G, Harper P, Badminton M, Sandberg S, Deybach JC: \nThe incidence of inherited porphyrias in Europe\n. J\nInherit Metab Dis. 2013, 36:849-57. \n10.1007/s10545-012-9544-4\n3\n. \nLinenberger M, Fertrin KY: \nUpdates on the diagnosis and management of the most common hereditary\nporphyrias: AIP and EPP\n. Hematology Am Soc Hematol Educ Program. 2020, 2020:400-10.\n10.1182/hematology.2020000124\n4\n. \nGonzalez-Mosquera LF, Sonthalia S: \nAcute Intermittent Porphyria\n. StatPearls Publishing, Treasure Island,\nFL; 2025.\n5\n. \nSardh E, Barbaro M: \nAcute intermittent porphyria\n. GeneReviews®. Adam MP, Bick S, Mirzaa GM, et al. (ed):\nUniversity of Washington, Seattle, WA; 2024.\n6\n. \nAlsharif S, Subahi A, Shirah B, Alshamrani KM, Alhazmi TA, Mesurolle B: \nIncidental gonadal vein\nthrombosis diagnosed using computed tomography imaging: a single-center, retrospective, cohort study\n.\nCureus. 2021, 13:e15741. \n10.7759/cureus.15741\n7\n. \nAlsheef M, Abuzied Y, Alosaimi M, et al.: \nClinical characteristics and management of ovarian vein\nthrombosis: a case series\n. Front Cardiovasc Med. 2022, 9:916920. \n10.3389/fcvm.2022.916920\n8\n. \nLiu YA, Sun CY: \nInferior vena cava thrombosis in a porphyria patient\n. Acta Cardiol Sin. 2022, 38:802-5.\n10.6515/ACS.202211_38(6).20220603B\n9\n. \nVentura P, Corradini E, Di Pierro E, et al.: \nHyperhomocysteinemia in patients with acute porphyrias: a\npotentially dangerous metabolic crossroad?\n. Eur J Intern Med. 2020, 79:101-7. \n10.1016/j.ejim.2020.04.002\n10\n. \nOlson MC, Lubner MG, Menias CO, et al.: \nVenous thrombosis and hypercoagulability in the abdomen and\npelvis: causes and imaging findings\n. Radiographics. 2020, 40:875-94. \n10.1148/rg.2020190097\n11\n. \nWang J, Chen J, Xu K, et al.: \nAn easily overlooked disease in the early stages: acute intermittent porphyria\n.\nBMC Neurol. 2025, 25:61. \n10.1186/s12883-025-04064-0\n12\n. \nAarsand AK, To-Figueras J, Whatley S, Sandberg S, Schmitt C: \nPractical recommendations for biochemical\nand genetic diagnosis of the porphyrias\n. Liver Int. 2025, 45:e16012. \n10.1111/liv.16012\n13\n. \nStein P, Badminton M, Barth J, Rees D, Stewart MF: \nBest practice guidelines on clinical management of\nacute attacks of porphyria and their complications\n. Ann Clin Biochem. 2013, 50:217-23.\n10.1177/0004563212474555\n14\n. \nWang B, Bonkovsky HL, Lim JK, Balwani M: \nAGA Clinical Practice Update on Diagnosis and Management of\nAcute Hepatic Porphyrias: expert review\n. Gastroenterology. 2023, 164:484-91. \n10.1053/j.gastro.2022.11.034\n15\n. \nDickey AK, Leaf RK: \nGivosiran: a targeted treatment for acute intermittent porphyria\n. Hematology Am Soc\nHematol Educ Program. 2024, 2024:426-33. \n10.1182/hematology.2024000663\n16\n. \nSardh E, Balwani M, Rees DC, Anderson KE, Jia G, Sweetser MT, Wang B: \nLong-term follow-up of givosiran\ntreatment in patients with acute intermittent porphyria from a phase 1/2, 48-month open-label extension\nstudy\n. Orphanet J Rare Dis. 2024, 19:365. \n10.1186/s13023-024-03284-w\n \n2026 Goranti et al. Cureus 18(3): e105498. DOI 10.7759/cureus.105498\n5\n of \n5","source_license":"CC0","license_restricted":false}