Primary Antiphospholipid Syndrome Presenting Research Articles

Right Ventricular Outflow Tract Mass as the Initial Presentation of Primary Antiphospholipid Syndrome

Abstract Antiphospholipid syndrome (APS) is an autoimmune disorder characterized by the presence of antiphospholipid antibodies and clinical manifestations, including thrombosis and pregnancy-related complications. While cardiac manifestations such as intracardiac thrombi, valvular disease, and intracardiac masses have been reported, the presentation of an intracardiac mass as the initial manifestation of primary APS (PAPS) is relatively uncommon. This case report describes a 40-year-old female patient who presented with an echogenic mass in the right ventricular outflow tract, subsequently diagnosed as a calcified amorphous tumor. Further investigation revealed elevated levels of anticardiolipin antibodies and beta-2 glycoprotein leading to the diagnosis of PAPS. The patient later developed digital ischemia, strengthening the suspicion of PAPS. This case highlights the importance of considering APS as a potential underlying cause for intracardiac masses, even in the absence of other typical manifestations. Early recognition and appropriate management, including anticoagulation and immunosuppressive therapy, are crucial to prevent further thrombotic complications and improve patient outcomes.

Vessel wall imaging in the diagnosis of antiphospholipid syndrome presenting as Moyamoya syndrome-A case report.

Objectives: We describe a case of anti-phospholipid syndrome (APLS) vasculopathy presenting with Moyamoya syndrome (MMS) and show the associated intracranial vessel wall MRI (VWI) findings. Methods: A 37-year-old-woman presented with acute onset dizziness and left-sided weakness. Neurologic exam revealed a left facial droop and left hemiparesis. She underwent a comprehensive laboratory work-up for stroke. Neuroimaging included a CT head, CT angiogram, VWI, and digital subtraction angiography. Results: Work-up revealed a triple-positive APLS antibody profile. CT of the head showed an acute right basal ganglia infarction and right frontal subarachnoid hemorrhage. CT angiogram revealed severe stenosis of the right internal carotid artery terminus in a Moyamoya pattern. Intracranial VWI showed long-segment concentric vessel wall thickening and homogeneous vessel wall enhancement and T2-hyperintense wall edema of the stenotic right ICA terminus, M1 middle cerebral artery, and A1 anterior cerebral artery. She was treated with long-term anticoagulation with warfarin and a right superficial temporal artery to middle cerebral artery bypass. Discussion: We present intracranial VWI features of vessel wall pathology in a patient with primary APLS presenting with MMS.

Primary Antiphospholipid Syndrome Presenting with Cerebellar Stroke and Positive Titres of Anti-β2 Glycoprotein-1 Antibody Only: A Case Report (P9-5.026)

<h3>Objective:</h3> To describe a case of Primary Antiphospholipid Syndrome presenting with Cerebellar Stroke and positive titres of anti-β2 glycoprotein-1 antibody only. <h3>Background:</h3> Antiphospholipid syndrome (APS) is an autoimmune disease where the presence of antiphospholipid antibodies leads to the development of arterial and/or venous thromboses and obstetric complications. Amongst the myriad of presentations, APS can manifest in the form of cerebrovascular stroke. However, overlapping clinico-radiological findings and a lack of classic APS features can sometimes pose a diagnostic dilemma. <h3>Design/Methods:</h3> NA <h3>Results:</h3> A 31-year-old female presented with occipital headache and difficulty in walking. Neurological examination revealed ataxia, dysdiadochokinesia and intention tremor. Preliminary laboratory findings revealed raised ESR along with normal CRP, aPTT and PT levels. MRI brain showed an acute infarct in the right cerebellar hemisphere and right postero-lateral upper medulla. MRA Head &amp; Neck revealed an occluded intracranial right vertebral artery with an extracranial segment showing multifocal occlusions with aorta and its major branches unaffected. These features and the absence of fever, rash, joint pain or obstetric complications led to the consideration of stroke due to Takayasu Arteritis. Treatment was initiated with corticosteroids, anticoagulants and antiplatelet drugs. However, on review of other laboratory tests, notably the auto-immune profile showed the presence of anti-ß2 glycoprotein-I antibodies with negligible titres of lupus anticoagulant and anti-cardiolipin antibody. This pointed towards a diagnosis of Primary Antiphospholipid Syndrome, which was confirmed after 12 weeks when repeat laboratory tests indicated the presence of IgM anti-ß2 glycoprotein-I antibodies. The patient is now on lifelong Warfarin therapy and is leading a symptom-free life. <h3>Conclusions:</h3> This case illustrates the potential of anti-β2 glycoprotein-1 antibody to cause a cerebellar stroke in the absence of other commonly involved antibodies. It also highlights the value of a holistic stroke workup. Recognition of APS is imperative for the timely administration of treatment and to prevent a recurrence. <b>Disclosure:</b> Mr. Shah has nothing to disclose. Mr. Shah has nothing to disclose. Dr. Nagrani has nothing to disclose.

A case of completed course multifocal osteonecrosis (MFON) during pregnancy due to primary antiphospholipid syndrome

Osteonecrosis of both shoulders and hips is a rare presentation of primary antiphospholipid syndrome. A female patient aged 23 years old with no systemic diseases has her only complaint which was pain and limitations in both hips followed by both shoulders. Careful detailed history and clinical examination is essential for reaching optimum diagnosis thus good management. MRI for hip and shoulder joints is essential for the diagnosis of osteonecrosis. Exclusion of all causes of secondary osteonecrosis by history, clinical examination, and laboratory studies should be done before diagnosing the rare causes of osteonecrosis or the primary type. Pregnancy is an exacerbation factor for primary osteonecrosis. We recommend that the female patient with primary osteonecrosis should receive prophylactic antithrombotic during pregnancy. In conclusion, exclusion of all secondary causes of osteonecrosis is mandatory to reach an accurate diagnosis.

Rare presentation of primary antiphospholipid syndrome associated with hyperhomocysteinemia as a cause of recurrent ischemic stroke in young male.

Se presenta el caso de un paciente varón de 38 años con antecedentes de enfermedad cerebrovascular isquémica recurrente sin etiología determinada y trombosis venosa en miembros inferiores. Debido a la diversidad etiológica del infarto cerebral en un adulto joven, se le hizo una serie de exámenes clínicos, con lo cual se obtuvo el diagnóstico de un síndrome antifosfolípido primario asociado a hiperhomocisteinemia. Orientado el diagnóstico, se le dio terapia con anticoagulantes y pulsos de corticoides; posterior a lo cual mejoró. El Síndrome Antifosfolípido forma parte del diagnóstico diferencial en mujeres jóvenes con infarto cerebral, de las cuales la mayoría se ha reportado casos en su forma secundaria, pero encontrarlo en forma primaria y más aún en un paciente varón es raro. Asimismo, el aumento de valores de homocisteína está relacionada con la gravedad del primer evento cerebrovascular, mas no con eventos recurrentes.

A Mono-Articular Septic Arthritis and Multifocal Avascular Necrosis in Absence of Corticosteroid Use: An Unusual Presentation of Primary Antiphospholipid Syndrome

Osteonecrosis (ON) or avascular necrosis results from disruption of blood supply to bone marrow and trabecular bone leading to death of bone. Antiphospholipid Syndrome (APS) may be primary or secondary to other autoimmune disease. The involvement of multiple sites of ON has been documented with APS. Literature suggests that avascular necrosis predispose a septic arthritis in affected joints especially in immunosuppressed patients.

Primary Antiphospholipid Syndrome Presenting as Bell Palsy without Cerebral Arterial Thrombosis

항인지질항체증후군은 국내에서 ë¹„êµì  드문 질환이나 ì Šì€ 여성에서 ë°˜ë³µì ì¸ ìœ ì‚°ë³‘ë ¥ì´ 있는 경우 ìž„ìƒì ìœ¼ë¡œ ì˜ì‹¬í•˜ê³ ì¡°ê¸° 진단하여야 한다. ì €ìžë“¤ì€ 뇌혈관 í˜ˆì „ 없이 일차성 항인지질항체증후군에 동반한 벨마비를 ì§„ë‹¨í•˜ì˜€ê³ ì„±ê³µì ìœ¼ë¡œ 치료하였기에 ë¬¸í—Œê³ ì°°ê³¼ 함께 증례 ë³´ê³ í•˜ëŠ” 바이다. 중심 단어: 항인지질항체증후군; 벨마비

Intracardiac thrombosis in a young female as first presentation of primary antiphospholipid syndrome: A case report

Primary antiphospholipid syndrome (PAPS) is an entity characterized by spontaneous and recurrent abortion and recurrent vascular thromboses (arterial and venous). Intracardiac thrombosis is a rare but life-threatening complication of PAPS. Herein we describe a 21 year-old woman admitted to hospital due to left pleurodynia and shortness of breath with no history of thrombotic events. Helix chest tomography scan disclosed pulmonary embolism as well as a filling defect of the inferior vena cava, which in subsequent cardiac magnetic resonance (MRI) proved to be intracardiac thrombus. Laboratory tests showed triple positivity for antiphospholipid antibodies, renal involvement and thrombocytopenia; PAPS, possibly catastrophic, was diagnosed. The patient was treated with iv pulses of corticosteroids, cyclophosphamide, intravenous immunoglobulin and oral anticoagulation (INR levels between 2.5 and 3), improved gradually and was discharged after 15 days of hospitalization. At 6-month follow-up new cardiac MRI revealed complete resolution of the thrombus. Patients with APS that present with pulmonary embolism should be investigated for the possibility of intracardial thrombus. Indefinite anticoagulation treatment in these patients is warranted due to high recurrence rates.

初期症状としてBudd-Chiari症候群を呈した原発性抗リン脂質抗体症候群の一例

初期症状としてBudd-Chiari症候群を呈した原発性抗リン脂質抗体症候群の一例

A Case of Acute Budd-Chiari Syndrome Complicating Primary Antiphospholipid Syndrome Presenting as Acute Abdomen and Responding to Tight Anticoagulant Therapy.

A 34-year-old woman with primary antiphospholipid syndrome was admitted to the Gastroenterology Department of our hospital with fever, acute abdomen, watery diarrhea, and extremely high levels of inflammatory parameters. She had a history of left lower limb deep vein thrombosis and pulmonary embolism and was taking warfarin potassium. Acute gastroenteritis was suspected and an antibiotic was administered, but symptoms progressed. Abdominal ultrasonography showed occlusion of the left hepatic vein and the middle hepatic vein and her D-dimer level was high. Accordingly, Budd-Chiari syndrome was diagnosed and high-dose intravenous infusion of heparin was initiated. Her abdominal symptoms improved and the levels of inflammatory parameters and D-dimer decreased rapidly. It is known that antiphospholipid syndrome can be complicated by Budd-Chiari syndrome that usually occurs as subacute or chronic onset, but acute onset is rare. It is difficult to diagnose acute Budd-Chiari syndrome complicating antiphospholipid syndrome and this complication generally has a poor outcome. However, the present case can get early diagnosis and successful treatment with tight anticoagulant therapy.

Primary Antiphospholipid Syndrome and Necrotizing Pancreatitis

The objective of this study was to report an unusual case of primary antiphospholipid syndrome (APS)-associated severe necrotizing pancreatitis. Since the APS was first recognized in the 1980s, a number of manifestations of the disorder have been described. We report primary APS presenting as severe necrotizing pancreatitis. This is the first such case to date that fulfills the revised Sapporo classification criteria. A 38-year-old previously healthy woman presented with new-onset hypertensive emergency and acute kidney injury. She subsequently developed severe epigastric pain attributable to necrotizing pancreatitis and extensive splenic infarcts. Biopsies of both the pancreas and kidney revealed thrombotic microangiopathy. Her lupus anticoagulant was positive on both weeks 1 and 12 of her disease course. A diagnosis of primary APS was made. Despite 6 months of aggressive care, she died of sepsis.

Primary antiphospholipid syndrome presenting as renal vein thrombosis and membranous nephropathy

Antiphospholipid syndrome is a multisystem auto-immune disorder characterized by thrombotic events and the presence of circulating antiphospholipid antibodies. Large vessel involvement in the form of thrombosis/stenosis and thrombotic microangiopathy is a commonly described renal finding. However, non-thrombotic glomerulopathies are increasingly being recognized in patients with antiphospholipid syndrome. We report a rare occurrence of both renal vein thrombosis and membranous nephropathy in a previously healthy adolescent male. Investigations revealed persistently positive antiphospholipid antibodies in the absence of an underlying systemic autoimmune disorder or malignancy. Our patient responded favourably to anti-proteinuric therapy and anticoagulation with complete resolution of proteinuria and a nearly occlusive thrombus.

Inferior Vena Cava Obstruction by a Cardiac Mass: Unusual Presentation of Primary Antiphospholipid Syndrome

We present a previously healthy 43-year-old woman with a cardiac mass that caused almost total occlusion of the inferior vena cava at its junction with the right atrium. The resected mass proved to be a thrombus. Preoperative imaging tests could not distinguish it from other intracardiac tumors such as myxoma. A postoperative immunological study revealed a primary antiphospholipid syndrome. This case presents an unusual diagnosis of antiphospholipid syndrome and a rare location of a cardiac thrombus.

Primary antiphospholipid syndrome presenting as thrombotic microangiopathy: Successful treatment with steroids, plasma exchange and anticoagulants

Antiphospholipid syndrome (APS) often presents as a multisystem disorder characterized by recurrent arterial and venous thrombosis and pregnancy loss. We present a 46-year-old female who was admitted with oliguric acute renal failure. APS was suspected due to prolongation of activated partial thromboplastin time and history of miscarriages. Investigations for secondary causes were normal. Renal biopsy findings revealed thrombotic microangiopathy. A complete recovery of renal function was attained with a combination of plasma exchange and pulse methylprednisolone followed by oral steroids and warfarin. The case is presented for its rarity and therapeutic implications.

Cerebral venous sinus thrombosis in early pregnancy: An unusual presentation of primary antiphospholipid syndrome

Cerebral venous sinus thrombosis, an unusual presentation of antiphospholipid syndrome, is a rare condition in pregnancy, particularly in the first trimester. The authors of this case report present the case of a 20-year-old woman with sudden onset of headaches and hemiparesis in the first trimester of pregnancy. She underwent a computed tomography scan and magnetic resonance imaging. The image findings and the autoimmune serum test were consistent with a cerebral venous sinus thrombosis complicated by primary antiphospholipid syndrome. The patient's hemiparesis improved with subcutaneous low molecular weight heparin and oral aspirin. In the third trimester of pregnancy, she developed seizures that were controlled by antiepileptic drugs. She delivered a healthy baby at 37 weeks' gestation without immediate or late postpartum complications.

Primary antiphospholipid syndrome presenting as hyponatremic hypertensive syndrome and acute adrenal insufficiency following it: a rare case

Hyponatremic hypertensive syndrome (HHS) is rare and is characterized with hypertension together with hyponatremia, hypokalemia and low plasma osmolarity and considered to be based on renal ischemia. It can rarely develop due to antiphospholipid syndrome (APS). We reported a case of 43-year-old man with unilateral renal artery stenosis due to primary APS. He presented with a hypertensive hyponatremic episode. First, he was treated with antihypertensive drugs. Further, radiological imaging showed enlargement of bilaterally adrenal glands that mimic adrenal masses. Unilateral nephrectomy and adrenalectomy were performed. Pathological examination revealed necrosis in the adrenal tissue and thrombosis in its artery. After operation, acute adrenal insufficiency developed in the patient because of hemorrhagic infarction of bilaterally adrenal glands. He improved after intravenous hydrocortisone treatment. His therapy was maintained with oral prednisolone and fludrocortisone. This patient with HHS, due to primary APS, is the first case in literature and acute adrenal insufficiency is a rare complication of APS.

A Rare Presentation of Primary Antiphospholipid Syndrome

This case presents a young patient with myocardial infarction, in-situ thrombosis of left anterior descending coronary artery and right common-iliac artery due to primary antiphospholipid syndrome. This report discusses the relationship between antiphospholipid antibodies and coronary artery disease along with management of this rare condition.

Localized retinal ischemia as an ocular manifestation of primary antiphospholipid syndrome

Case report: Herein, a case of an unusual ocular presentation of primary antiphospholipid syndrome. The patient disclosed localized retinal ischemia due to branch retinal artery occlusion, confirmed by fluorescein angiography and manual perimetry.Comments: The ocular manifestation led to the diagnosis and successful treatment of the systemic disease.

Primary Antiphospholipid Syndrome Presenting as HELLP Syndrome

Primary Antiphospholipid Syndrome Presenting as HELLP Syndrome

Primary Antiphospholipid Syndrome Masquerading as Diabetic Retinopathy

Background: Primary antiphospholipid syndrome (PAPS) is a thrombotic condition which characteristically includes ocular vaso-occlusive pathology. Case: We present the case of a 47-year-old woman with PAPS presenting with retinal vascular leakage. Observations: Vascular leakage was an incidental finding on fundoscopy in a myopic Chinese woman, and initially this was diagnosed as diabetic retinopathy. However, a glucose tolerance test was negative. Subsequently, signs of retinal vaso-occlusion developed. Previous subclinical cerebral thrombosis, mild thrombocytopaenia and positive tests for antiphospholipid antibodies were consistent with the diagnosis of PAPS. Anticoagulation therapy with warfarin prevented further thrombotic episodes. Conclusion: The possibility of PAPS should be considered in patients presenting with retinal vascular disease without obvious vascular risk factors.