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Cureus May 2024In this case report, we present the development of catastrophic antiphospholipid syndrome (CAPS), a rare and potentially fatal consequence of systemic lupus...
In this case report, we present the development of catastrophic antiphospholipid syndrome (CAPS), a rare and potentially fatal consequence of systemic lupus erythematosus (SLE), in a 33-year-old Micronesian woman. CAPS is characterized by extensive arterial thrombosis and multiorgan failure. The patient first showed signs of neuropsychiatric symptoms, brain infarctions on imaging, and severe hypoxic respiratory failure brought into the hospital by diffuse alveolar hemorrhage (DAH) along with lupus nephritis (LN). Blood urea nitrogen (BUN) and creatinine (Cr) were progressively elevated to 102/4.1 mg/dL, respectively. A urinalysis revealed microscopic hematuria and proteinuria with a urine protein/creatinine ratio of 6052 mg/g. She was also found to have had microangiopathic hemolytic anemia (MAHA) and severe venous thrombosis, both of which were indicative of CAPS. An aggressive approach, including immunosuppressive medication, therapeutic plasma exchange, and anticoagulation, had positive results, including renal recovery and the cessation of thrombotic episodes. This instance highlights how crucial it is to identify CAPS patients early and take appropriate action to improve patient outcomes for this difficult and sometimes deadly disorder.
PubMed: 38826875
DOI: 10.7759/cureus.59542 -
BMC Neurology May 2024To investigate the risk factors and underlying causes of pregnancy-related cerebral venous thrombosis (PCVT).
OBJECTIVES
To investigate the risk factors and underlying causes of pregnancy-related cerebral venous thrombosis (PCVT).
METHODS
A retrospective cohort of 16 patients diagnosed with CVT during pregnancy and postpartum (within six weeks after delivery) in a comprehensive hospital in China between 2009 and 2022 were carefully reviewed, focusing on demographic, clinical, and etiological characteristics, especially underlying causes. We matched 16 PCVT patients with 64 pregnant and puerperal women without PCVT to explore risk factors and clinical susceptibility to PCVT.
RESULTS
PCVT occurred commonly during the first trimester (43.75%) and the puerperium (37.5%). The frequency of anemia, thrombocytosis and thrombocytopenia during pregnancy, dehydration, and pre-pregnancy anemia was significantly higher in women with PCVT than in those without PCVT (P < 0.05). Among the 16 patients, five were diagnosed with antiphospholipid syndrome and one was diagnosed with systemic lupus erythematosus. Three patients had distinct protein S deficiency and one had protein C deficiency. Whole Exome Sequencing (WES) was performed for five patients and revealed likely pathogenic mutations associated with CVT, including heterozygous PROC c.1218G > A (p. Met406Ile), heterozygous PROS1 c.301C > T (p. Arg101Cys), composite heterozygous mutation in the F8 gene (c.144-1259C > T; c.6724G > A (p. Val2242Met)) and homozygous MTHFR c.677C > T (p. Ala222Val).
CONCLUSIONS
The occurrence of anemia, thrombocytopenia and thrombocytosis during pregnancy, dehydration and pre-pregnancy anemia suggested a greater susceptibility to PCVT. For confirmed PCVT patients, autoimmune diseases, hereditary thrombophilia, and hematological disorders were common causes. Screening for potential etiologies should be paid more attention, as it has implications for treatment and long-term management.
Topics: Humans; Female; Pregnancy; Retrospective Studies; Adult; Intracranial Thrombosis; Risk Factors; Venous Thrombosis; China; Young Adult; Pregnancy Complications, Hematologic; Protein S Deficiency
PubMed: 38822265
DOI: 10.1186/s12883-024-03676-2 -
Journal of Surgical Case Reports May 2024No reports on granulocyte colony-stimulating factor-producing lung cancer associated with antiphospholipid antibody syndrome. A 73-year-old man was referred to our...
No reports on granulocyte colony-stimulating factor-producing lung cancer associated with antiphospholipid antibody syndrome. A 73-year-old man was referred to our department to undergo surgery for lung cancer in the right upper lobe. His examination results suggested that his condition was caused by an elevated white blood cell count and an increased inflammatory response due to granulocyte colony-stimulating factor production. The presence of antiphospholipid antibody syndrome was suspected, and the decrease in coagulation factors was considered to be inhibited by the lupus anticoagulant. Perioperatively, the patient was treated with heparin and steroids, and a thoracoscopically assisted right upper lobectomy was performed. Postoperatively, histopathological examination revealed pleomorphic carcinoma, and the patient tested negative for anticardiolipin IgG antibodies. In lung cancer patients with elevated white blood cell counts, fever, and an inflammatory response, granulocyte colony-stimulating factor-producing lung cancer is an important differential diagnosis. Additionally, when coagulation abnormalities are observed preoperatively, a thorough examination is necessary to prepare for perioperative management.
PubMed: 38817796
DOI: 10.1093/jscr/rjae361 -
Cureus Apr 2024Non-bacterial thrombotic endocarditis (NBTE) is a very rare condition characterized by sterile thrombi formation on cardiac valves and is often associated with...
Non-bacterial thrombotic endocarditis (NBTE) is a very rare condition characterized by sterile thrombi formation on cardiac valves and is often associated with hypercoagulation states, such as malignancy and autoimmune disorders. We present the case of a 74-year-old patient admitted to the intensive care unit with acute respiratory failure, who had a history of COVID-19 infection five months prior to admission, despite having received certified vaccination. The patient developed NBTE involving the mitral valve, alongside acute respiratory distress syndrome (ARDS). In spite of the exclusion of cancer and systemic connective tissue disorders, the patient's condition rapidly deteriorated, leading to treatment-resistant multi-organ failure and demise, despite aggressive management, including anticoagulation therapy, mechanical ventilation, and renal replacement therapy. This case underscores the need for further research into the mechanisms underlying NBTE in the absence of traditional risk factors. Additionally, it highlights the importance of long-term anticoagulant therapy in NBTE management to mitigate the risk of embolic complications. Our case contributes to the growing body of literature identifying a subset of NBTE cancer-free patients with distinct characteristics, including those associated with current or past COVID-19 infection.
PubMed: 38817529
DOI: 10.7759/cureus.59336 -
The Medical Journal of Malaysia May 2024Antiphospholipid syndrome (APS) is a systemic autoimmune disease characterised by thrombosis and pregnancy morbidity in the presence of antiphospholipid antibodies...
INTRODUCTION
Antiphospholipid syndrome (APS) is a systemic autoimmune disease characterised by thrombosis and pregnancy morbidity in the presence of antiphospholipid antibodies (aPL). Our study aims to study the clinical and laboratory characteristics, treatment strategies and outcomes of APS patients retrospectively.
MATERIALS AND METHODS
A retrospective review of all APS patients treated in Rheumatology Unit, Hospital Pulau Pinang between October 2021 and October 2022 was conducted.
RESULTS
A total of 53 APS patients (age 42.4±13.9 years) including 22 (41.5%) primary and 31 (58.5%) secondary APS patients were identified. Thrombosis was the most common clinical manifestation (51/53; 96.2%) followed by pregnancy morbidity (15/45; 33.3%). For other clinical manifestations, aPL-associated thrombocytopenia was the most frequently observed manifestation (26.4%) followed by autoimmune haemolytic anaemia (18.9%). Lupus anticoagulant (LA) (88.7%) was the most commonly found aPL followed by anticardiolipin antibody (aCL) (50.9%) and anti-beta 2 glycoprotein 1 antibody (B2GP1) (30.2%). 10 (18.9%) patients tested positive for all three aPL. The majority of our patients (86.8%) receive warfarin as anticoagulation therapy while the remaining receive aspirin or direct oral anticoagulants.
CONCLUSION
Our population cohort demonstrated a high incidence of pregnancy morbidities and a similar incidence of thrombotic events compared to other population cohorts in both Asian and the European countries.
Topics: Humans; Antiphospholipid Syndrome; Retrospective Studies; Female; Adult; Male; Middle Aged; Pregnancy; Tertiary Care Centers; Antibodies, Antiphospholipid; Thrombosis; Malaysia; Pregnancy Complications; Anticoagulants
PubMed: 38817063
DOI: No ID Found -
Turkish Journal of Medical Sciences 2023In this cross-sectional study, it was aimed to test the predictive value of noncriteria antiphospholipid antibodies (aPL) in addition to the global antiphospholipid...
BACKGROUND/AIM
In this cross-sectional study, it was aimed to test the predictive value of noncriteria antiphospholipid antibodies (aPL) in addition to the global antiphospholipid syndrome score (GAPSS) in predicting vascular thrombosis (VT) in a cohort of patients with APS and aPL (+) systemic lupus erythematosus (SLE).
MATERIAL AND METHODS
This study included 50 patients with primary APS, 68 with SLE/APS, and 52 with aPL (+) SLE who were classified according to VT as VT ± pregnancy morbidity (PM), PM only or aPL (+) SLE. Antiphospholipid serology consisting of lupus anticoagulant (LA), anticardiolipin (aCL) immunoglobulin G (IgG)/IgM/IgA, antibeta2 glycoprotein I (aβ2GPI) IgG/IgM/IgA, antiphosphatidylserine/prothrombin (aPS/PT) IgG/IgM and antidomain-I (aDI) IgG was determined for each patient. The GAPSS and adjusted GAPSS (aGAPSS) were calculated for each patient, as previously defined. Logistic regression analysis was carried out with thrombosis as the dependent variable and high GAPSS, aCL IgA, aβ2GPI IgA, and aDI IgG as independent variables.
RESULTS
The mean GAPSS and aGAPSS of the study population were 11.6 ± 4.4 and 9.6 ± 3.8. Both the VT ± PM APS (n = 105) and PM only APS (n = 13) groups had significantly higher GAPSS and aGAPSS values compared to the aPL (+) SLE (n = 52) group. The patients with recurrent thrombosis had higher aGAPSS but not GAPSS than those with a single thrombotic event. The computed area under the receiver operating characteristic curve demonstrated that a GAPSS ≥13 and aGAPSS ≥10 had the best predictive values for thrombosis. Logistic regression analysis including a GAPSS ≥13, aCL IgA, aβ2GPI IgA, and aDI IgG showed that none of the factors other than a GAPSS ≥13 could predict thrombosis.
CONCLUSION
Both the GAPSS and aGAPSS successfully predict the thrombotic risk in aPL (+) patients and aCL IgA, aβ2GPI IgA, and aDI IgG do not contribute to high a GAPSS or aGAPSS.
Topics: Humans; Antiphospholipid Syndrome; Female; Adult; Male; Thrombosis; Cross-Sectional Studies; Antibodies, Antiphospholipid; Risk Assessment; Middle Aged; Lupus Erythematosus, Systemic; Pregnancy; Antibodies, Anticardiolipin
PubMed: 38813003
DOI: 10.55730/1300-0144.5671 -
Rhode Island Medical Journal (2013) Jun 2024The antiphospholipid syndrome (APS) is defined by the presence of antiphospholipid antibodies and related disorders, generally thromboses, miscarriages, livedo...
The antiphospholipid syndrome (APS) is defined by the presence of antiphospholipid antibodies and related disorders, generally thromboses, miscarriages, livedo reticularis or heart valve abnormalities. It is thought to have a prevalence of about 40-50 cases per 100,000 in the general population.1 Several neurological disorders have been associated with APS, most commonly stroke, but non-stroke complications, thought due to auto- immune problems, have been noted, with chorea being the most common. Isolated toe tremor, that is, without any other neurological signs or symptoms, has not been reported. We describe a case of recurrent isolated uni- lateral toe tremor in an otherwise healthy woman with long-standing APS.
Topics: Humans; Antiphospholipid Syndrome; Female; Tremor; Toes; Middle Aged
PubMed: 38810009
DOI: No ID Found -
Cureus Apr 2024The intricate relationship between antiphospholipid antibody (APLA) syndrome and pregnancy outcomes challenges the prevailing notion of inevitable reproductive...
The intricate relationship between antiphospholipid antibody (APLA) syndrome and pregnancy outcomes challenges the prevailing notion of inevitable reproductive complications associated with APLA. The introduction provides a comprehensive overview of APLA, its autoimmune thrombophilic nature, and its common association with adverse pregnancy outcomes, emphasizing the need for a nuanced understanding. Here we discuss five case reports to showcase diverse scenarios, each highlighting successful pregnancies in APLA-positive patients, thereby contributing valuable insights into the management of this complex condition. The cases span various clinical presentations, patient demographics, and therapeutic approaches, emphasizing the heterogeneity of APLA-positive pregnancies and the importance of personalized care. The discussion delves into the broader context of APLA's impact on pregnancy, emphasizing recurrent miscarriage and venous thromboembolism (VTE) as severe complications. It underscores the significance of pre-conceptional counseling, a multidisciplinary approach, and regular antenatal monitoring in managing APLA-positive pregnancies. The identification of commonalities among the cases provides a basis for recognizing mitigating factors that contribute to positive outcomes, offering valuable guidance for healthcare providers. The series acknowledges the existence of catastrophic antiphospholipid syndrome (CAPS) and underscores the importance of early recognition and intervention in high-risk cases. Despite the challenges posed by APLA, the cases in the series offer a ray of hope by showcasing instances of successful pregnancies, attributing positive outcomes to optimized therapeutic interventions and vigilant antenatal care. In conclusion, the case series serves as a valuable resource for healthcare professionals, researchers, and policymakers, providing a nuanced perspective on APLA-positive pregnancies. By synthesizing diverse experiences and outcomes, the series contributes to the ongoing dialogue surrounding optimal management strategies, ultimately aiming to improve the quality of care for individuals facing the unique challenges posed by APLA during their reproductive journey.
PubMed: 38803763
DOI: 10.7759/cureus.59088 -
Rheumatology Advances in Practice 2024Transcranial Doppler (TCD) and brain MRI may be useful in evaluating patients with APS, helping to stratify the risk of cerebrovascular ischaemic events in this...
OBJECTIVE
Transcranial Doppler (TCD) and brain MRI may be useful in evaluating patients with APS, helping to stratify the risk of cerebrovascular ischaemic events in this population. This study aimed to assess the frequency of brain MRI abnormalities in patients with primary antiphospholipid syndrome, secondary antiphospholipid syndrome and SLE and correlate to TCD findings.
METHODS
The study, conducted over four years at two autoimmune disease referral centres, included 22 primary antiphospholipid syndrome patients, 24 secondary antiphospholipid syndrome patients, 27 SLE patients without APS and 21 healthy controls. All participants underwent TCD to assess cerebral haemodynamics, detect microembolic signals and evaluate right-to-left shunts, followed by brain MRI and magnetic resonance angiography. MRI scans were reviewed for acute microembolism, localized cortical infarctions, border infarctions, lacunar infarctions, ischaemic lesions, white matter hyperintensity, micro and macro haemorrhages and arterial stenosis ≥50% of the cervical carotid artery, by two neuroradiologists blinded to the clinical data.
RESULTS
Brain MRI findings were similar between the groups, except for lacunar infarction, more frequent in patients with secondary antiphospholipid syndrome ( = 0.022). Patients with intracranial stenosis detected by TCD had a higher frequency of territorial infarction (40% vs 7.5%, = 0.02), lacunar (40% vs 11.3%, = 0.075) and border zone infarcts (20% vs 1.9%, = 0.034).
CONCLUSIONS
Patients with intracranial stenosis presented a higher frequency of territorial, lacunar and border zone infarcts, suggesting that evaluating the intracranial vasculature should not be neglected in patients with APS and stroke.
PubMed: 38800574
DOI: 10.1093/rap/rkae060 -
Research and Practice in Thrombosis and... May 2024Antiphospholipid syndrome (APS) can present with either a thromboembolic event (thrombotic APS, TAPS) or an obstetric complication (obstetric APS, OAPS). Data on...
BACKGROUND
Antiphospholipid syndrome (APS) can present with either a thromboembolic event (thrombotic APS, TAPS) or an obstetric complication (obstetric APS, OAPS). Data on long-term complications in the different APS phenotypes are limited.
OBJECTIVES
We aimed to compare obstetric history, antiphospholipid antibody profiles, obstetric and thromboembolic complications, and pregnancy outcomes between TAPS and OAPS.
METHODS
This retrospective cohort study included women who delivered singleton pregnancies between 1998 and 2020. One hundred sixteen thousand four hundred nine women were included, resulting in 320,455 deliveries. Among the included patients, 71 were diagnosed with APS, 49 were classified as OAPS, and 22 as TAPS. The demographics, obstetric, neonatal, and thrombotic outcomes were compared among TAPS, OAPS, and the general obstetric population.
RESULTS
OAPS patients had an increased risk of thrombotic events compared with the general obstetric population (odds ratio [OR] 18.0; 95% CI, 8.7-37.2). In pregnancies following the diagnosis of APS, despite standard antithrombotic treatment, OAPS patients exhibited an elevated risk of placenta-related and neonatal complications compared with the general obstetric population (late fetal loss [adjusted OR {aOR}, 15.3; 95% CI, 0.5-27.5], stillbirth [aOR, 5.9; 95% CI, 2.2-15.4], placental abruption [aOR, 4.8; 95% CI, 1.5-15.3], preeclampsia [aOR, 4.4; 95% CI, 2.5-7.7], fetal growth restriction [aOR, 4.3; 95% CI, 8.5-27.5], small for gestational age neonate [aOR, 4.0; 95% CI, 2.4-6.6], and low Apgar scores [Apgar'1: aOR, 2.6; 95% CI, 1.3-10.4; Apgar'5: aOR, 3.7; 95% CI, 1.3-10.4]). TAPS patients exhibited increased risk of preeclampsia (aOR, 3.1; 95% CI, 1.2-8).
CONCLUSION
OAPS patients exhibit a heightened risk of thrombotic events compared with the general obstetric population. Despite treatment, OAPS and TAPS still presented obstetric complications. These findings, after confirmation in prospective studies, need to be taken into consideration when planning the treatment approach for these patients.
PubMed: 38798792
DOI: 10.1016/j.rpth.2024.102430