Midbrain infarction in inherited protein S deficiency: a rare association

2021 ◽  
Vol 14 (10) ◽  
pp. e246073
Author(s):  
Manali Chandra ◽  
Atanu Chandra ◽  
Sayantan Chakraborty ◽  
Joydeep Ghosh
Keyword(s):  
Ischaemic Stroke ◽  
Protein S ◽  
Sudden Onset ◽  
Laboratory Evaluation ◽  
Protein S Deficiency ◽  
Inherited Thrombophilia ◽  
S Deficiency ◽  
Arterial Ischaemic Stroke ◽  
Midbrain Infarction

Inherited thrombophilic disorders are well‐established predisposing factors for venous thromboembolism, but their role in arterial ischaemic stroke is uncertain. The exact mechanism of arterial thrombosis in thrombophilias remains elusive. Herein, we report a case of a 30-year-old woman who was admitted to our facility with sudden-onset right-sided ptosis and ophthalmoplegia. Detailed clinical features, neuroimaging and laboratory evaluation clinched the diagnosis of ischaemic stroke in midbrain due to microvascular obstruction associated with isolated protein S deficiency. She was treated with oral anticoagulant (warfarin) and physiotherapy; without any improvement of her symptoms at 2 months of follow-up. A high index of clinical suspicion is needed in any case of young ischaemic stroke in absence of common cardiac and vascular risk factors, to recognise the presence of inherited thrombophilia.

Homozygous Protein S Deficiency: 7-Year Follow-Up

1996 ◽  
Vol 76 (06) ◽  
pp. 1122-1122 ◽  
Author(s):  
Chularatana Mahasandana ◽  
Gavivann Veerakul ◽  
Voravam S Tanphaichitr ◽  
Vinai Suvatte ◽  
Nisarat Opartkiattikul ◽  
...  
Keyword(s):  
Protein S ◽  
Protein S Deficiency ◽  
S Deficiency

scholarly journals INHERITED THROMBOPHILIA SECONDARY TO PROTEIN S DEFICIENCY ASSOCIATED WITH ISCHEMIC STROKE. CASE REPORT

2016 ◽  
Vol 15 (4) ◽  
pp. 187-191
Author(s):  
Diana Matcau ◽  
◽  
Claudia Barsan ◽  
Traian Flavius Dan ◽  
Camelia Barbusi ◽  
...  
Keyword(s):  
Ischemic Stroke ◽  
Oral Contraceptive ◽  
Magnetic Resonance ◽  
Laboratory Data ◽  
Protein S ◽  
Protein S Deficiency ◽  
Inherited Thrombophilia ◽  
Oral Contraceptive Pills ◽  
Contraceptive Pills ◽  
S Deficiency

Thrombophilia is characterized by an increased tendency to arterial and venous thrombus formation. Inherited thrombophilia can be secondary to protein S deficiency. Concomitant use of oral contraceptive pills increases the risk of venous thromboembolism and arterial thrombosis. We report a case of a 34-year-old female who used oral contraceptive pills for many years, who developed acute ischemic stroke of right occipital lobe with secondary left superior homonymous quadrantanopia. We have run several tests to establish the ischemic stroke etiology: unenhanced brain and cervical spine computed tomography, brain magnetic resonance imaging and magnetic resonance angiography (including MR venography), computed tomographic angiography, echocardiography, extracranial duplex ultrasound and laboratory data (including thrombophilia testing). The laboratory investigations confirmed that the ischemic stroke of our patient resulted from a severe inherited thrombophilia secondary to protein S deficiency.

scholarly journals Recurrent esophagogastric variceal bleeding due to portal vein thrombosis caused by protein S deficiency

2018 ◽  
Vol 06 (11) ◽  
pp. E1283-E1288 ◽  
Author(s):  
Haoxiong Zhou ◽  
Jieying Xuan ◽  
Xianyi Lin ◽  
Yunwei Guo
Keyword(s):  
Portal Vein ◽  
Portal Vein Thrombosis ◽  
Variceal Bleeding ◽  
Endoscopic Therapy ◽  
Protein S ◽  
Protein S Deficiency ◽  
Esophageal Variceal ◽  
Vein Thrombosis ◽  
S Deficiency

Abstract Background and study aims Esophagogastric variceal bleeding (EGVB) is common in patients with portal vein thrombosis (PVT). Hereditary deficiencies in natural anticoagulant proteins, such as protein S, might contribute to PVT. However, recurrent EGVB caused by PVT in patients with protein S deficiency is seldom reported. Herein, we present the case of a 38-year-old man with protein S deficiency complicated with PVT. The patient suffered recurrent EGVB for 7 years. He underwent splenectomy plus pericardial revascularization and sequential endoscopic therapy, including one gastric variceal obturation (GVO) procedure and two esophageal variceal ligations (EVL) to eradicate the varices. Rivaroxaban was administrated to reduce risk of thrombotic events. The patient is currently well without rebleeding after 1 year of follow-up. To our knowledge there is no consensus on management of recurrent EGVB on the basis of thrombophilia complicated with PVT. According to our practice, sequential endoscopic therapy combined with anticoagulant appears to be effective and safe.

scholarly journals Inherited thrombophilia in children with venous thromboembolism and the familial risk of thromboembolism: an observational study

Blood ◽  
2012 ◽  
Vol 120 (7) ◽  
pp. 1510-1515 ◽  
Author(s):  
Susanne Holzhauer ◽  
Neil A. Goldenberg ◽  
Ralf Junker ◽  
Christine Heller ◽  
Monika Stoll ◽  
...  
Keyword(s):  
Venous Thromboembolism ◽  
Protein C ◽  
Protein S ◽  
Factor V ◽  
Protein S Deficiency ◽  
C Protein ◽  
Inherited Thrombophilia ◽  
S Deficiency ◽  
Factor Ii ◽  
Factor V G1691a

Abstract Screening for inherited thrombophilia (IT) is controversial; persons at high risk for venous thromboembolism (VTE) who benefit from screening need to be identified. We tested 533 first- and second-degree relatives of 206 pediatric VTE patients for IT (antithrombin, protein C, protein S, factor V G1691A, factor II G20210A) and determined the incidence of symptomatic VTE relative to their IT status. The risk for VTE was significantly increased among family members with, versus without, IT (hazard ratio = 7.6; 95% confidence interval [CI], 4.0-14.5; P < .001) and highest among carriers of antithrombin, protein C, or protein S deficiency (hazard ratio = 25.7; 95% CI, 12.2-54.2; P < .001). Annual incidences of VTE were 2.82% (95% CI, 1.63%-4.80%) among family members found to be carriers of antithrombin, protein C, or protein S deficiency, 0.42% (0.12%-0.53%) for factor II G202010A, 0.25% (0.12%-0.53%) for factor V G1691A, and 0.10% (0.06%-0.17%) in relatives with no IT. Given the high absolute risk of VTE in relatives with protein C, protein S, and antithrombin deficiency, we suggest screening for these forms of hereditary thrombophilia in children with VTE and their relatives. Interventional studies are required to assess whether thromboembolism can be prevented in this high-risk population.

scholarly journals Thromboembolic Occlusion of Left Bracheal artery Protein-C and Protein-S Deficiency - A Case Report

1970 ◽  
Vol 3 (1) ◽  
pp. 92-93
Author(s):  
MG Kibria ◽  
GMM Hossain ◽  
M Anisuzzaman ◽  
MZ Haque ◽  
KN Haque ◽  
...  
Keyword(s):  
Arterial Thrombosis ◽  
Protein C ◽  
Warfarin Therapy ◽  
Protein S ◽  
Protein S Deficiency ◽  
Untoward Event ◽  
Artery Thrombosis ◽  
S Deficiency ◽  
One Year

Protein-C and Protein-S deficiency states are responsible for 3-5% (Protein-C) and 2-3% (Protein-S) of patients with venous thrombosis. Some cases of arterial thrombosis have been reported. It occurs twice as often in female as in males. A 50 years old lady presented with acute severe pain in the left upper limb for 2 days. On investigation she was diagnosed as a case of bracheal artery thrombosis with Protein-C & Protein-S deficiency. Bracheal thromboembolectomy was done and discharge her with life long warfarin therapy. In one year follow up the patient had no untoward event and INR done every month and warfarin is adjusted. Keywords: Arterial thromboembolism; Protein-C and Protein-S deficiency. DOI: 10.3329/cardio.v3i1.6433Cardiovasc. j. 2010; 3(1): 92-93

scholarly journals PB2435 PROTEIN S DEFICIENCY AND ISCHAEMIC STROKE

HemaSphere ◽  
2019 ◽  
Vol 3 (S1) ◽  
pp. 1079
Author(s):  
A. Kazantzi ◽  
F. Girtovitis ◽  
V. Voulgaridou ◽  
C. Savopoulos ◽  
E. Hassapopoulou-Matami ◽  
...  
Keyword(s):  
Ischaemic Stroke ◽  
Protein S ◽  
Protein S Deficiency ◽  
S Deficiency

The Frequency of Type I Heterozygous Protein S and Protein C Deficiency in 141 Unrelated Young Patients with Venous Thrombosis

1988 ◽  
Vol 59 (01) ◽  
pp. 018-022 ◽  
Author(s):  
C L Gladson ◽  
I Scharrer ◽  
V Hach ◽  
K H Beck ◽  
J H Griffin
Keyword(s):  
Venous Thrombosis ◽  
Protein C ◽  
Antithrombin Iii ◽  
Young Patients ◽  
Protein S ◽  
Type I ◽  
Protein S Deficiency ◽  
Protein C Deficiency ◽  
Low Protein ◽  
S Deficiency

SummaryThe frequency of heterozygous protein C and protein S deficiency, detected by measuring total plasma antigen, in a group (n = 141) of young unrelated patients (<45 years old) with venous thrombotic disease was studied and compared to that of antithrombin III, fibrinogen, and plasminogen deficiencies. Among 91 patients not receiving oral anticoagulants, six had low protein S antigen levels and one had a low protein C antigen level. Among 50 patients receiving oral anticoagulant therapy, abnormally low ratios of protein S or C to other vitamin K-dependent factors were presented by one patient for protein S and five for protein C. Thus, heterozygous Type I protein S deficiency appeared in seven of 141 patients (5%) and heterozygous Type I protein C deficiency in six of 141 patients (4%). Eleven of thirteen deficient patients had recurrent venous thrombosis. In this group of 141 patients, 1% had an identifiable fibrinogen abnormality, 2% a plasminogen abnormality, and 3% an antithrombin III deficiency. Thus, among the known plasma protein deficiencies associated with venous thrombosis, protein S and protein C. deficiencies (9%) emerge as the leading identifiable associated abnormalities.

Severe Arterial Cerebral Thrombosis in a Patient with Protein S Deficiency (Moderately Reduced Total and Markedly Reduced Free Protein S): A Family Study

1989 ◽  
Vol 61 (01) ◽  
pp. 144-147 ◽  
Author(s):  
A Girolami ◽  
P Simioni ◽  
A R Lazzaro ◽  
I Cordiano
Keyword(s):  
Arterial Thrombosis ◽  
Protein C ◽  
Protein S ◽  
Protein S Deficiency ◽  
Protein C Deficiency ◽  
Free Protein ◽  
Her Family ◽  
S Deficiency ◽  
Increased Risk ◽  
Patient Reported

SummaryDeficiency of protein S has been associated with an increased risk of thrombotic disease as already shown for protein C deficiency. Deficiencies of any of these two proteins predispose to venous thrombosis but have been only rarely associated with arterial thrombosis.In this study we describe a case of severe cerebral arterial thrombosis in a 44-year old woman with protein S deficiency. The defect was characterized by moderately reduced levels of total and markedly reduced levels of free protein S. C4b-bp level was normal. Protein C, AT III and routine coagulation tests were within the normal limits.In her family two other members showed the same defect. All the affected members had venous thrombotic manifestations, two of them at a relatively young age. No other risk factors for thrombotic episodes were present in the family members. The patient reported was treated with ASA and dipyridamole and so far there were no relapses.

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