原発性抗リン脂質抗体症候群

Antiphospholipid syndrome (APS) is an acquired autoimmune thrombophilia associated with venous, arterial, and microvascular thrombosis. Living donor liver transplantation (LDLT) from a donor with definite APS is exceptionally uncommon and raises a difficult balance between recipient benefit and donor safety. We report LDLT using a right lobe graft from a 47-year-old female spouse donor with recurrent spontaneous abortions and persistent lupus anticoagulant positivity documented on repeat testing more than 12 weeks apart, fulfilling criteria for definite obstetric APS. Anticardiolipin immunoglobulin M was positive, whereas antinuclear antibody profile and inherited thrombophilia screening were unremarkable. After multidisciplinary review, donation proceeded under an individualized protocol including baseline vascular assessment, temporary perioperative interruption of aspirin and hydroxychloroquine to mitigate surgical bleeding risk, low-molecular-weight heparin after surgical hemostasis, staged reintroduction of aspirin and hydroxychloroquine, and serial Doppler surveillance. Donor hepatectomy and recipient implantation were uneventful. Hepatic arterial and portal venous flow remained preserved, and neither donor nor recipient developed thrombosis or major bleeding during early follow-up. This case suggests that definite obstetric APS should be regarded as a high-risk donor factor, not an automatic contraindication, when stringent selection, explicit consent, hematology-led prophylaxis, and vigilant surveillance are available.

Antiphospholipid syndrome (APS) is associated with an increased risk of thrombotic complications after kidney transplantation, particularly in patients with persistently elevated and triple-positive antiphospholipid antibodies (aPLs). Management of APS in kidney transplantation relies primarily on perioperative anticoagulation; however, thrombotic events may still occur despite appropriate therapy in patients with high-risk aPLs. We report the case of a 49-year-old woman with systemic lupus erythematosus-associated APS and persistently triple-positive aPLs who underwent living donor kidney transplantation. Because of her high thrombotic risk, perioperative immunoglobulin G--lowering therapy with the neonatal Fc receptor antagonist efgartigimod alfa was administered in addition to therapeutic anticoagulation. Treatment with efgartigimod alfa was associated with marked reductions in anticardiolipin and anti-β2-glycoprotein I antibody levels before transplantation, conversion of lupus anticoagulant to negative after transplantation, and sustained suppression of aPLs during the early posttransplant period. Kidney transplantation was successful with stable graft function during follow-up. To our knowledge, this represents the first reported use of efgartigimod alfa to reduce aPLs in the perioperative management of APS in kidney transplantation.

RATIONALE: Drug reaction with eosinophilia and systemic symptoms (DRESS) is a rare, potentially life-threatening hypersensitivity reaction. Its occurrence during pregnancy, especially secondary to anti-tuberculous therapy (ATT), is exceedingly uncommon and presents major diagnostic and therapeutic challenges. PATIENT CONCERNS: A 23-year-old pregnant woman (14 weeks gestation) presented with prolonged fever, jaundice, rash with desquamation, and respiratory symptoms while on first-line ATT for pulmonary tuberculosis. DIAGNOSES: Laboratory evaluation revealed severe eosinophilia, deranged liver function, hepatitis E virus co-infection, and autoimmune overlap (systemic lupus erythematosus with antiphospholipid antibody positivity). Based on clinical features and a Registry of Severe Cutaneous Adverse Reactions score of 6, a definite diagnosis of DRESS syndrome was established. INTERVENTIONS: ATT was discontinued, and she was treated with systemic corticosteroids, antihistamines, and topical therapy. Sequential drug challenges confirmed hypersensitivity to all 4 first-line agents, necessitating initiation of bedaquiline, clofazimine, and delamanid. OUTCOMES: The patient showed favorable clinical recovery with improvement in systemic manifestations and stabilization of pregnancy. She was discharged on modified ATT with multidisciplinary follow-up. LESSONS: This case highlights the complexity of diagnosing and managing DRESS in pregnancy, particularly in tuberculosis-endemic regions. Coexisting viral hepatitis and autoimmune disorders may mimic or exacerbate the syndrome, underlining the importance of high clinical suspicion, timely drug withdrawal, and individualized therapy.

Catastrophic antiphospholipid syndrome (CAPS) is a rare, life-threatening subtype of APS that may progress to end-stage kidney disease. CAPS survivors may have limited access to kidney transplantation (KT). We conducted a retrospective nationwide study including all French KT performed in recipients with a history of CAPS between 2008 and 2024. Twelve KTs were performed in 10 patients (median age: 45 (IQR: 41-56) years), all from deceased donors. Anticoagulation was resumed 4 h (0-5) after KT and reached therapeutic levels at 12 h (6-28). Preventive strategies included perioperative anti-C5 therapy in 5 KTs and plasma exchange (PE) in 6, including one transplant performed with both approaches. No CAPS recurrences or deaths occurred. We observed 5 early microangiopathic events: two cases of microangiopathic haemolytic anaemia (MAHA) with thrombocytopenia, two cases of cortical necrosis with MAHA and thrombocytopenia, and one segmental renal infarction. One case of cortical necrosis led to early graft loss. After a median follow-up of 21 (17-46) months, 9 of 12 (75%) kidney allografts remained functional (2 graft losses at 55 and 71 months). In this series, no CAPS recurrence or death was observed, however allograft complications were frequent, highlighting the need for tailored preventive strategies.

Perinuclear antineutrophil cytoplasmic antibodies (P-ANCAs) and myeloperoxidase (MPO) antibodies are detected in 15%-25% of lupus nephritis patients, but systemic lupus erythematosus (SLE)/ANCA-associated vasculitis (AAV) overlap syndrome is rare, occurring in approximately 2% of cases. We present a 57-year-old woman with SLE and antiphospholipid syndrome (APS) on belimumab, hydroxychloroquine, and prednisone, who presented with acute ischemic stroke requiring thrombectomy and rapidly progressive renal failure (creatinine rising from 1.1 to 5.2 mg/dL) with nephrotic-range proteinuria (8.6 g/g). P-ANCA titer was > 1:640 with MPO positivity, while anti-dsDNA, C3, and C4 were normal. Kidney biopsy revealed crescentic glomerulonephritis with neutrophil-rich infiltrates and immune complex deposits on electron microscopy but without "full house" immunofluorescence, favoring SLE/AAV overlap rather than isolated lupus nephritis flare. Treatment with methylprednisolone, rituximab, and anticoagulation resulted in significant renal recovery (creatinine 1.7 mg/dL, proteinuria 4.4 g/g). This case highlights the importance of ANCA testing in SLE patients with unexplained rapidly progressive glomerulonephritis, as early recognition of overlap syndrome carries distinct therapeutic implications, including the use of rituximab-based regimens targeting both disease processes.