Critical Care and Anaesthesia
Tjun Tang, Elizabeth O'Riordan, Stewart Walsh in Cracking the Intercollegiate General Surgery FRCS Viva, 2020
How do you treat thrombophilia?If thrombophilia is acquired, treat cause if possibleConsider primary anticoagulation or prophylaxis in patients at riskPrimary prophylaxis − prolonged hospitalisation postoperatively, immobilisation and in patients with active cancer.Long-term prophylaxis − complex assessment of all risk factors; liaise with haematology colleagues Benefits of anticoagulation must outweigh the risk of bleeding, especially in elderly patients.
Hereditary and Acquired Causes of a Hypercoagulable State
Harold R. Schumacher, William A. Rock, Sanford A. Stass in Handbook of Hematologic Pathology, 2019
The guiding principles in the management of thrombophilia are clinical history and clinical circumstances, combined with laboratory identification of a defect or risk factor. For discussion, management will be divided into: (a) primary prophylaxis for an asymptomatic individual with an inherited risk, (b) secondary prophylaxis for an individual with an identified risk and a previous thrombotic episode, and (c) acute event management. Management options in hyperhomocysteinemia will be discussed separately. Unfortunately, there are no controlled, randomized clinical trials of anticoagulation dealing with the various inherited and acquired causes of thrombophilia. The following discussion is based upon small series and the author’s experience. The recommendations suggested must be considered tentative and await larger multicenter trials. They must be considered as general guidelines and are not a substitute for good clinical judgment.
Forensic Genetics and Genomic
Cristoforo Pomara, Vittorio Fineschi in Forensic and Clinical Forensic Autopsy, 2020
Based on genetic test results and clinical presentations, normal-risk PE was diagnosed in the patient. PE is a rare disorder in young individuals without known risk factors for VTE. Few data are available about the young patients who experience the first episode of VTE during contraceptive use. Cigarette smoking, overweight, and positive family history for DVT were common among the affected individuals (Trenor III et al., 2011). Use of COC is common in athletic women since the agents enhance physical capacity (Patnaik and Moll, 2008). Female athletes have no such risk factors as obesity, immobility, and cigarette smoking; therefore, the risk of VTE is lower in the population of COC users. The risk of VTE returns to normal after discontinuation of the treatment (Martínez et al., 2012). Before COCs are prescribed, counseling on side effects, including VTE, is mandatory, and a careful evaluation of risk factors for VTE and screening for other abnormalities, including hypertension, obesity, cigarette smoking, and positive family history for spontaneous VTE are recommended. In the case of previous VTE, either COCs are contraindicated or, as in the case of persons with risk factors for VTE, including thrombophilia, progestogen-only contraception may be an option. Thrombophilia is the predisposition to form clots inappropriately. The abnormality may result in thrombotic disorders in young, apparently healthy individuals (O’Brien, 2014; Lenicek Krleza et al., 2010). Inherited thrombophilias have been found in about 30% of patients with PE, for which there are different guidelines on screening (Ivanov et al., 2008).
Clomiphene- induced pulmonary embolism
Published in Journal of Community Hospital Internal Medicine Perspectives, 2021
Chahat Puri, Eugene A. Obah
In our case, the patient had been started on clomiphene to treat hypogonadism, and after 6 months of therapy, he developed a deep vein thrombosis and pulmonary embolism. Our patient did not have any risk factors for PE, no suspicion of malignancy, and thrombophilia workup was negative. Even in patients with thrombophilia, clot formation is usually triggered by a pro-thrombotic drug (like Oral contraceptives)infections, immobilization, or malignancy. It is important to rule out thrombophilia as these patients are at an increased risk of clot formation and may need a longer duration of anti-coagulation. As our patient’s PE was caused by clomiphene, he was prescribed a 3-month course of anti-coagulation. Even though there are only a limited case reports of thrombosis associated with clomiphene, physicians should be cautious with its use and be mindful of the possibility of pulmonary embolism with clomiphene therapy.
Thrombophilia, risk factors and prevention
Published in Expert Review of Hematology, 2019
Elena Campello, Luca Spiezia, Angelo Adamo, Paolo Simioni
Inherited thrombophilia is a genetic propensity to develop venous thromboembolism (VTE). The most frequent causes are the factor V Leiden and the prothrombin gene mutation G20210A, accounting for about 50% to 70% of the diagnosed genetic thrombophilia. The less frequent but more severe defects of antithrombin (AT), protein C (PC) and protein S (PS) account for most of the remaining cases of diagnosed genetic thrombophilia [5–8]. More recently, new genetic defects responsible for severe thrombophilia have been identified, and namely, pseudo-homozygosity for activated protein C (APC) resistance, the hyperfunctional factor IX Padua, and the resistance to AT [9–11]. And last but not least, ABO blood group is the most common genetic risk factor for VTE [12]. Figure 1 summarizes known and currently diagnosed hereditary thrombophilias. There is a large number of families (about 30–40%) with symptomatic thrombophilia in which none of the known inherited conditions is identified. This unexplained thrombophilia is very likely to be due to genetic mutations that are still unknown.
Aetiology of recurrent miscarriage and the role of adjuvant treatment in its management: a retrospective cohort review
Published in Journal of Obstetrics and Gynaecology, 2018
Samuel James Alexander Dobson, Kanna Mannadiar Jayaprakasan
We found that inherited thrombophilia was present with a prevalence more similar to that seen in a population with thrombotic diseases (Crowther and Kelton 2003). Factor V Leiden mutations occurred in 1.2% of our population, slightly lower than the 2%–3.3% quoted in other similar studies (Rai et al. 2001). Two studies have shown no difference in prevalence of inherited thrombophilia between the couples with RM and their parous controls, suggesting that the number of mutations and the foetal genotype may play a more important role than just the presence of an inherited thrombophilia (Carp et al. 2002). This is also supported by the conflicting studies that have suggested both an increased risk of RM with inherited thrombophilia (Dizon-Townson et al. 1996) and no increased risk (De Groot et al. 1999).
Related Knowledge Centers
- Anticoagulant
- Antithrombin III Deficiency
- Coagulation
- Deep Vein Thrombosis
- Embolism
- Pulmonary Embolism
- Thrombosis
- Antithrombin III Deficiency
- Factor V Leiden
- Venous Thrombosis
- Post-Thrombotic Syndrome