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[Hereditary protein S deficiency in a patient with prominent mesenteric venous thrombosis: A case report].
Beijing Da Xue Xue Bao Yi Xue Ban
December 2024
Department of Rheumatology and Immunology, Peking University Third Hospital, Beijing 100191, China.
Hereditary protein S deficiency (PSD) is an autosomal dominant disorder caused by mutations in the 1 gene which can cause venous thrombosis. Individuals with PSD usually present with recurrent deep vein thrombosis and/or pulmonary embolism, but thrombosis may occur at unusual sites, such as the mesenteric and portal veins. Here we report a case of hereditary protein S deficiency patient with predominant mesenteric venous thrombosis.
View Article and Find Full Text PDFImproving diagnosis in patients with obstetric antiphospholipid syndrome through the evaluation of non-criteria antibodies.
Clin Transl Immunology
December 2024
Placenta Lab, Department of Obstetrics Jena University Hospital Jena Germany.
Objectives: Antiphospholipid syndrome (APS) is an autoimmune disease driven by antiphospholipid antibodies (aPL). Currently, APS diagnosis requires a combination of clinical manifestations (thrombosis and/or obstetric morbidity) and the persistent presence of at least one criteria aPL: anti-cardiolipin antibodies (aCL), anti-β2-glycoprotein I antibodies (aβ2GPI) or lupus anticoagulant (LA). Patients with suggestive obstetric symptoms but lacking criteria aPL face diagnostic challenges.
View Article and Find Full Text PDFAssociation Between Novel Antiphospholipid Antibodies and Adverse Pregnancy Outcomes.
Obstet Gynecol
January 2025
University of Utah and ARUP Laboratories, Salt Lake City, and Intermountain Health, Murray, Utah; the Hospital for Special Surgery, New York, New York; and Oregon Health & Science University, Portland, Oregon.
Objective: To investigate the value of anti-β2 glycoprotein-I domain 1 (aD1) and antiphosphatidylserine-prothrombin antibodies for predicting adverse pregnancy outcomes in an at-risk population and to describe the relationship among aD1, antiphosphatidylserine-prothrombin, lupus anticoagulant, and other antiphospholipid antibodies (aPL).
Methods: Data were obtained from a prospective cohort of pregnant patients with aPL, with systemic lupus erythematosus (SLE) (n=59) or without SLE (n=106), or SLE without aPL (n=100) (PROMISSE [Predictors of Pregnancy Outcome in Systemic Lupus Erythematosus and Antiphospholipid Syndrome] study; NCT00198068). Levels of aD1 and antiphosphatidylserine-prothrombin were quantified with the QUANTA Flash and QUANTA Lite systems, respectively, in sera collected at less than 18 weeks of gestation.
Lupus anticoagulant associated with low grade B-cell lymphoma and IgM paraproteinaemia with lupus cofactor phenomenon on DRVVT and SCT assays - a possible novel association.
Thromb J
December 2024
Department of Pathology, Queen Elizabeth Hospital, Block M, 30 Gascoigne Road, Kowloon, Hong Kong.
Article Synopsis
- - The article discusses lupus anticoagulant (LA), which is a phenomenon causing abnormal results in blood clotting tests, specifically highlighting its association with lymphoma and IgM paraproteinaemia.
- - Two cases of low grade B-cell lymphoma were presented, both showing positive results for LA and a "lupus cofactor effect" in specific blood assays, indicating an unusual relationship between these conditions.
- - The findings suggest that diluting patient samples with normal pooled plasma is crucial for accurately evaluating LA status in cases of low grade B-cell lymphoma, as certain tests may yield false negatives without dilution.
Extensive Deep Vein Thrombosis and Pulmonary Embolism in a Young Patient With Heterozygous Factor V Leiden Mutation and Antiphospholipid Syndrome.
Cureus
October 2024
Internal Medicine, County Emergency Clinical Hospital of Targu Mures, Targu Mures, ROU.
Although thrombotic events are uncommon in young individuals, patients with genetic mutations in coagulation factors may develop extensive multisite thrombosis. We present the case of a 26-year-old patient, a smoker for nine years, who was admitted to the hospital complaining of right thigh pain with swelling, right flank abdominal pain, dyspnea, and hemoptysis. A medical history provided by the patient indicated that one month prior to presentation, an accidental fall had resulted in multiple rib fractures, bilateral hemopneumothorax, and pneumomediastinum.
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