Laboratory thrombophilia screening: essentials for hematologists

A 50- year-old female was presented with recurrent venous thrombosis with ischemic stroke due to protein S deficiency. Other causes of recurrent venous thrombosis were excluded by different investigations. We only found low level of protein S. In most of the cases, thrombophilia screening is not usaally done. So, this report will illustrate the importance of thrombophlia screening in patient having recurrent venous thrombosis. DOI: http://dx.doi.org/10.3329/jom.v13i1.10085 JOM 2012; 13(1): 100-102

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Inappropriate use of protein C, protein S, and antithrombin testing for hereditary thrombophilia screening: an experience from a large university hospital

International Journal of Laboratory Hematology ◽

10.1111/j.1751-553x.2011.01332.x ◽

2011 ◽

Vol 33 (6) ◽

pp. 593-600 ◽

Cited By ~ 7

Author(s):

P. TIENTADAKUL ◽

Y. CHINTHAMMITR ◽

K. SANPAKIT ◽

C. WONGWANIT ◽

Y. NILANONT

Keyword(s):

Protein C ◽

Protein S ◽

University Hospital ◽

C Protein ◽

Inappropriate Use ◽

Hereditary Thrombophilia ◽

Thrombophilia Screening

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Thrombophilia screening in the acute phase of deep venous thrombosis

Scandinavian Journal of Clinical and Laboratory Investigation ◽

10.1080/00365510903072012 ◽

2009 ◽

Vol 69 (6) ◽

pp. 633-635

Author(s):

Anna-Marie Bloch Munster ◽

Johannes Jakobsen Sidelmann ◽

Jørgen Gram

Keyword(s):

Venous Thrombosis ◽

Deep Venous Thrombosis ◽

Acute Phase ◽

Thrombophilia Screening

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Thrombophilia screening in asymptomatic children

Thrombosis Research ◽

10.1016/j.thromres.2007.06.001 ◽

2008 ◽

Vol 121 (5) ◽

pp. 597-604 ◽

Cited By ~ 11

Author(s):

Courtney D. Thornburg ◽

Natalia Dixon ◽

Kristin Paulyson-Nuñez ◽

Thomas Ortel

Keyword(s):

Asymptomatic Children ◽

Thrombophilia Screening

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Amoxicillin-Clavulanate-Induced Ischaemic Colitis

Case Reports in Gastroenterology ◽

10.1159/000507014 ◽

2020 ◽

Vol 14 (1) ◽

pp. 242-247 ◽

Cited By ~ 1

Author(s):

Marco Alonge ◽

Federica Benini ◽

Rosanna Cannatelli ◽

Alessandro Pozzi ◽

Guido Missale ◽

...

Keyword(s):

Rare Condition ◽

Screening Tests ◽

Upper Respiratory Tract ◽

Ischaemic Colitis ◽

Drug Induced ◽

Amoxicillin Clavulanate ◽

Thrombophilia Screening ◽

Clostridium Difficile Toxin ◽

Upper Respiratory ◽

Stool Cultures

Ischaemic colitis (IC) is the most frequent form of ischaemia of the digestive tract. Due to the worldwide increasing use of medications, there is a growing interest in drug-induced IC. This study reports a rare case of IC directly due to amoxicillin-clavulanate intake. The objective of the study was to describe the evolution of this novel manifestation. An 18-year-old man, non-smoker, with an insignificant medical history, presented with diarrhoea and cramping abdominal pain that started the day following the end of a 10-day amoxicillin-clavulanate course for recent upper respiratory tract infection. Stool cultures including Clostridium difficile toxin testing were negative. Colonoscopy documented an erosive-ulcerative colitis of the sigmoid and the descending colon. Histological examination of the colon biopsies revealed an IC with focal pseudomembranous areas in the descending-sigmoid colon. Thrombophilia screening tests were negative. The patient was discharged from the hospital without symptoms, and another colonoscopy was performed 3 weeks after the previous one, which documented normal endoscopic and histological findings. Amoxicillin-clavulanate IC is a very rare condition and should be suspected once infectious diseases, vascular/haemodynamic causes and a prothrombotic/hypercoagulable state have been excluded. Immediate discontinuation of the antibiotic leads to rapid disease remission.

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Phlegmasia Cerulea Dolens in a Patient with Breast Cancer and Inferior Vena Cava Hypoplasia

Case Reports in Vascular Medicine ◽

10.1155/2020/2176848 ◽

2020 ◽

Vol 2020 ◽

pp. 1-4

Author(s):

A. Bianchi ◽

S. Pozza ◽

L. Giovannacci ◽

Jos. C. van den Berg

Keyword(s):

Nephrotic Syndrome ◽

Ductal Carcinoma ◽

Hybrid Approach ◽

Vena Cava ◽

Left Breast ◽

Inflammatory Parameters ◽

Threatening Condition ◽

Breast Nodule ◽

Thrombophilia Screening ◽

Phlegmasia Cerulea Dolens

Background. No clear guidelines exist for the management of phlegmasia cerulea dolens. This case report shows how a hybrid approach might be successful. It also shows how rare pathologies can combine to create a life- and limb-threatening condition. Case Presentation. A 75-year-old man, known for nephrotic syndrome currently under investigation, presented to the emergency department with a 24-hour history of left leg swelling followed by intense pain. The left lower limb showed a phlegmasia cerulean dolens. Renal function, coagulation profile, and inflammatory parameters were normal; D-Dimers 5,6 mg/L. The CT scan showed juxtarenal thrombosis of the hypoplastic IVC, involving both renal veins, reaching the left iliac-femoral-popliteal axis, with collateralization to the pelvic and mesenteric veins, associated with bilateral segmental pulmonary embolisms. A suspected left breast nodule was also found. Intravenous heparin was immediately administered, and urgent hybrid procedure with surgical thrombectomy and venous angiography and thromboaspiration, liberating the iliolumbar collaterals, was performed. A lateral leg fasciotomy was mandatory due to the phlegmasia cerulea. Postoperative Doppler US showed a good venous compressibility of the left leg. Thrombophilia screening was negative. The breast nodule was biopsied showing an invasive ductal carcinoma. The patient was discharged with oral rivaroxaban and indication for left mastectomy and oncological therapy with aromatase inhibitors. Conclusion. This case highlights the dramatic consequence of different risk factors for venous thromboembolism as cancer and nephrotic syndrome in a patient with hypoplasia of the inferior cava vein. Venous thromboaspiration has been used in order to timely recanalize important collaterals. Phlegmasia cerulea dolens was resolved after the procedure and lateral calf fasciotomy. Further evidence is needed to clearly define the role of venous thromboaspiration in the treatment of complex proximal deep venous thrombosis of the lower extremity.

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Utility of current thrombophilia screening in young patients with stroke and TIA

Stroke and Vascular Neurology ◽

10.1136/svn-2018-000169 ◽

2018 ◽

Vol 3 (4) ◽

pp. 231-236 ◽

Cited By ~ 1

Author(s):

Vafa Alakbarzade ◽

Alice Taylor ◽

Marie Scully ◽

Robert Simister ◽

Arvind Chandratheva

Keyword(s):

Protein C ◽

Young Patients ◽

Factor V Leiden ◽

Anticardiolipin Antibody ◽

Antiphospholipid Antibody ◽

G20210a Mutation ◽

Thrombophilia Screening ◽

Thrombophilia Testing ◽

Clinical Records ◽

The Impact

IntroductionApproximately 40% of strokes in young adults are cryptogenic. The diagnostic yield of thrombophilia screening remains controversial. We aimed to determine utility of current thrombophilia testing for young patients with stroke and transient ischaemic attack (TIA).MethodsWe present a retrospective review of all patients with stroke and TIA ≤60 years presenting to University College London Hospital stroke unit and daily TIA clinic from 1 January 2015 to 1 August 2016. Consecutive clinical records and thrombophilia tests, including factor V Leiden (FVL), prothrombin G20210A mutation (PGM), antiphospholipid antibody (APA), and protein S, C and antithrombin (AT) levels, were reviewed.ResultsThe mean age of 628 patients with stroke and TIA was 49.1 years (SD 9.2). Thrombophilia testing was performed in 360 (57%) patients, including 171 with stroke and 189 with TIA. Positive tests were found in 50 (14%) patients, of whom 24 patients were <50 years. Positive results were found in 36 (10%) with acute ischaemic stroke, 4 (1%) with haemorrhagic stroke and 10 (3%) with TIA. Thirteen patients (4%) had homozygous/heterozygous FVL or PGM, and 27 (7.5%) had positive APA (anticardiolipin antibody, anti-β2 glycoprotein antibody or lupus anticoagulant). Of 27 (7.5%) patients with protein C, S or AT deficiency, 10 (2.8%) had primary deficiency, presumed hereditary with other secondary causes excluded. 9% of patients with protein C, S or AT and 27% with APA were followed by confirmatory testing.ConclusionThrombophilia testing was positive in only 14% of cases overall. Thrombophilia mutations and protein C, S or AT abnormalities were found rarely and were very uncommon in patients with TIA. Follow-up of abnormal results was generally poor for all groups, which further limited the impact of the thrombophilia testing policy.

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Management and therapeutic implications of combined protein C and S deficiency in pregnancy: a case report

International Journal of Reproduction Contraception Obstetrics and Gynecology ◽

10.18203/2320-1770.ijrcog20202370 ◽

2020 ◽

Vol 9 (6) ◽

pp. 2653

Author(s):

Neha Agrawal ◽

Navdeep Ghuman ◽

Pratibha Singh ◽

Priyanka Kathuria

Keyword(s):

Protein C ◽

Pregnancy Loss ◽

Recurrent Pregnancy Loss ◽

The Body ◽

Therapeutic Implications ◽

S Deficiency ◽

Thrombophilia Screening ◽

Recurrent Pregnancy Losses ◽

Immunocompromised State ◽

Anticoagulant Prophylaxis

The pregnancy is an immunocompromised state. Thus, autoimmune diseases may affect pregnancy and get worsen during pregnancy. Here authors discuss a rare autoimmune thrombophilia disorder, protein C and S deficiency which may cause recurrent pregnancy losses by affecting haemostatic mechanisms in the body. This patient with recurrent pregnancy loss when evaluated extensively was found to have combined inherited protein C and S deficiency. It was successfully managed with thromboprophylaxis therapy, which resulted in the delivery of healthy baby. Long term anticoagulant prophylaxis should be considered weighing the risk of bleeding to thrombotic recurrence in such cases. In conclusion, combined protein C and S deficiency and that too presenting as recurrent pregnancy loss is very rare. Thrombophilia screening should be considered in cases of recurrent pregnancy losses. Adequate and appropriate thromboprophylaxis is an important part of the management of pregnant women with inherited thrombophilia.

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