A 17-year-old girl spent eight months being treated for chronic liver disease before doctors discovered that the real problem was a rare blood-clotting complication of juvenile-onset systemic lupus erythematosus. The case, published in Egyptian Rheumatology and Rehabilitation, describes how Budd–Chiari syndrome — an obstruction of the veins that drain blood from the liver — became the first visible sign of lupus in an adolescent girl, accompanied by secondary antiphospholipid syndrome and severe Class IV lupus nephritis. The report underscores how easily a multisystem autoimmune disease can hide behind a single organ’s failure, particularly in settings with limited access to specialists.
The girl arrived with progressive abdominal distension that had been building for eight months, along with low-grade fever of six months’ duration. She also reported dull aching abdominal pain, bilateral pedal swelling, unintentional weight loss, small-joint pain in her hands, recurrent mouth ulcers, patchy hair loss, and the abrupt cessation of her menstrual periods. At a referring institution she had been admitted twice and managed under a provisional diagnosis of chronic liver disease, based on ascites, swollen legs, abnormal liver enzymes — gamma-glutamyl transferase of 189 U/L and alkaline phosphatase of 396 U/L — and triphasic CT findings showing an altered hepatic enhancement pattern with a few hepatic nodules. During those admissions she was diagnosed with presumed spontaneous bacterial peritonitis and treated with antibiotics, although the original ascitic fluid cell counts and cultures were never available for independent verification, and later analysis at the reporting hospital showed no findings consistent with active infection.
The turning point came when further imaging identified hepatic vein thrombosis, prompting clinicians to reconsider the entire diagnosis and refer her for management of Budd–Chiari syndrome. Contrast-enhanced CT of the chest, abdomen, and pelvis then revealed the full extent of the problem: a gross right-sided pleural effusion with complete collapse of the right lung and shift of the mediastinum, a mildly dilated intrahepatic inferior vena cava with a partial filling defect extending approximately 62 millimeters, and marked attenuation of the right and left hepatic veins. The portal vein remained patent. Doppler ultrasound confirmed absent hepatic venous flow with a heterogeneous liver texture consistent with chronic congestive hepatopathy. Portal hypertension was inferred from the combination of clinical findings and imaging evidence rather than from direct pressure measurements, which were not performed, and upper gastrointestinal endoscopy found no esophageal or gastric varices.
Laboratory work revealed pancytopenia, with hemoglobin of 8.4 g/dL, a white cell count of 3.1 × 10⁹/L, and platelets of 98 × 10⁹/L. The erythrocyte sedimentation rate was markedly elevated at 88 mm/hr, and the direct Coombs test was positive, although the authors note that a positive Coombs test alone is insufficient to establish active autoimmune hemolytic anemia and no corroborating evidence of hemolysis was documented. Coagulation studies showed a prolonged prothrombin time with an INR of 1.6 and an activated partial thromboplastin time of 52 seconds, a pattern consistent with lupus anticoagulant activity. Serum creatinine was mildly elevated at 114 µmol/L with an estimated glomerular filtration rate of 62 mL/min/1.73 m², serum albumin was low at 2.4 g/dL, and twenty-four-hour urinary protein measured 2.1 g/day — subnephrotic-range proteinuria — with 3+ proteinuria on dipstick. Testing for protein C, free protein S, antithrombin III, and Factor V Leiden was normal, though the prothrombin G20210A mutation was never checked.
Immunological testing then pointed decisively toward systemic lupus erythematosus. Antinuclear antibodies were positive at 1:320 in a homogeneous pattern, anti-double-stranded DNA antibodies were strongly positive at 218 IU/mL, anti-Smith antibody was present, and complement C3 and C4 were markedly depressed at 0.42 g/L and 0.06 g/L, indicating active classical pathway consumption. Anticardiolipin IgG was moderate-positive at 72 GPL units, anti-β2-glycoprotein-I IgG was moderate-positive at 44 U/mL, and lupus anticoagulant was positive on dilute Russell viper venom time testing — all confirmed on repeat testing twelve weeks later, fulfilling laboratory criteria for antiphospholipid syndrome. Viral hepatitis and HIV serology and a full autoimmune liver profile were negative, and serum ceruloplasmin was normal on two occasions, helping exclude viral, autoimmune, and Wilson disease causes of the liver abnormality.
A percutaneous renal biopsy delivered the most serious finding: Class IV diffuse proliferative lupus nephritis under the ISN/RPS 2003 classification. Fourteen of eighteen glomeruli showed diffuse endocapillary and mesangial hypercellularity, with segmental fibrinoid necrosis, cellular crescents in three glomeruli, and prominent wire-loop lesions. Immunofluorescence demonstrated a full-house pattern with granular mesangial and subendothelial deposits of IgG, IgA, IgM, C3, and C1q, and electron microscopy confirmed subendothelial and mesangial electron-dense deposits. The biopsy was specifically assessed for features of APS-associated nephropathy such as thrombotic microangiopathy, fibrous intimal hyperplasia, or organizing thrombi, and none were identified. The authors note that a formal composite NIH activity and chronicity index was not recorded in the original pathology report.
The final diagnosis assembled all of these threads: SLE fulfilling the 2019 EULAR/ACR classification criteria with a total weighted score of 35, drawing from fever, thrombocytopenia, oral ulcers and non-scarring alopecia, pleural effusion, Class IV lupus nephritis, antiphospholipid antibodies, low complement, and anti-dsDNA/anti-Smith antibodies. Notably, the patient’s small-joint arthralgia did not meet the musculoskeletal domain’s synovitis or morning-stiffness definition and was not scored. Secondary APS was confirmed by hepatic vein thrombosis together with the persistently positive antiphospholipid antibodies, and chronic Budd–Chiari syndrome completed the picture. The authors emphasize that the 2023 ACR/EULAR APS criteria are a classification tool for research and trial enrolment, distinct from clinical diagnostic criteria, and that the new framework offers 99% specificity compared with 86% for the older 2006 Sapporo criteria.
Treatment began with a deliberate sequencing strategy. Immunosuppressive induction started with intravenous methylprednisolone 500 mg daily for three days, followed by oral prednisolone at 1 mg/kg/day with a planned taper. Mycophenolate mofetil was introduced at 750 mg twice daily — deliberately below the standard 1.0–1.5 g twice daily adult dose — once anticoagulation was established, and hydroxychloroquine 200 mg twice daily was added as background therapy. The authors explain the reduced dose: the patient had pancytopenia and a positive Coombs test, mycophenolate itself can cause leucopenia and anemia, and she required full therapeutic anticoagulation, so any further fall in platelet count from drug-induced myelosuppression would have raised her bleeding risk. Her hypoalbuminemia, renal impairment, and congestive hepatopathy also raised concerns, since mycophenolic acid is 97–99% bound to albumin and the free, pharmacologically active fraction can rise in these conditions. Anticoagulation began with intravenous unfractionated heparin targeting an aPTT of 60–80 seconds, bridged to warfarin with an INR target of 2.5–3.0, with indefinite anticoagulation planned. Because lupus anticoagulant can independently prolong aPTT and compromise its reliability, anti-factor Xa monitoring would have been preferable, but it was not available at the center — a limitation the authors acknowledge explicitly. Spironolactone, furosemide, and dietary sodium restriction managed the portal hypertension and ascites.
The response was rapid and sustained. At four weeks, abdominal girth had decreased, pedal edema had resolved, and hemoglobin had risen to 9.8 g/dL. Anti-dsDNA fell from 218 to 114 IU/mL, urinary protein dropped from 2.1 to 1.2 g/day, and C3 partially recovered to 0.60 g/L, with INR stable at 2.8 on warfarin. By six months, the girl remained clinically stable with no recurrent thrombosis or bleeding: creatinine fell to 96 µmol/L, eGFR rose to 76 mL/min/1.73 m², urinary protein fell to 0.6 g/day, anti-dsDNA fell to 68 IU/mL, and C3 normalized to 0.82 g/L. Abdominal distension and leg swelling had fully resolved, with no further fever, mouth ulcers, or hospitalizations. The team chose medical therapy over endovascular interventions such as angioplasty, stenting, thrombolysis, or TIPS, and the sustained response supported that approach. However, the patient declined further assessment — repeat liver tests, coagulation studies, formal blood pressure review, and radiological re-evaluation were not performed because she felt well and preferred not to undergo additional testing.
The case sits within a broader literature on diagnostic delay. In a German cross-sectional cohort, the mean interval between symptom onset and SLE diagnosis was approximately four years, or 47 months, and delay is often prolonged in adolescents because of unusual multisystem presentations and limited access to specialists. The authors note that adolescents represent 15–20% of SLE patients and carry a more severe phenotype with a high incidence of lupus nephritis, hematologic manifestations, and autoantibodies, and that proliferative nephritis is seen more often in children than adults, with faster progression to end-stage renal disease absent aggressive therapy. Similar cases have been reported — a 32-year-old woman whose abdominal distension preceded her lupus diagnosis, and a Peruvian adolescent in whom Budd–Chiari syndrome was the presenting manifestation of SLE with secondary APS — but this patient’s younger age, degree of Class IV nephropathy, South Asian low-resource setting, and protracted eight-month delay distinguish her course. The authors stress that they cannot establish a causal relationship between antiphospholipid antibodies and hepatic vein thrombosis in a single case, and that hereditary thrombophilia cannot be entirely excluded without prothrombin gene testing. Their message is straightforward: in young women with unexplained Budd–Chiari syndrome and ascites, particularly where tuberculosis and viral hepatitis are common, early autoimmune workup — ANA, anti-dsDNA, complement levels, and antiphospholipid antibodies — can prevent irreversible organ damage.
Subject of Research: A case report of juvenile-onset systemic lupus erythematosus presenting as Budd–Chiari syndrome with secondary antiphospholipid syndrome and Class IV lupus nephritis in an adolescent girl
Article Title: An unusual presentation of Juvenile-onset systemic lupus erythematosus: Budd–Chiari syndrome with secondary antiphospholipid syndrome and lupus nephritis: a case report
Article References: Hussain, D. S. M., Kumar, M., abbassi, D. A. A., Fatima, A., Azeem, M. H., & Alvi, H. (2026). An unusual presentation of Juvenile-onset systemic lupus erythematosus: Budd–Chiari syndrome with secondary antiphospholipid syndrome and lupus nephritis: a case report. Egyptian Rheumatology and Rehabilitation, 53(1), Article 89. https://doi.org/10.1186/s43166-026-00460-7
Image Credits: AI Generated
DOI: 10.1186/s43166-026-00460-7
Keywords: systemic lupus erythematosus, Budd–Chiari syndrome, antiphospholipid syndrome, lupus nephritis, adolescent health, autoimmune disease, hepatic vein thrombosis, diagnostic delay, mycophenolate mofetil, case report, rheumatology, portal hypertension
News Source: Ophelia Keating. (November 5, 2026). Lupus Hiding as Liver Disease Kept a Teenager Waiting Eight Months for a Diagnosis. Scienmag.
