Presentation
It seems likely that the interaction of hemophilic joint damage and age-related arthropathy contributes to a combined effect in the adult patients previously reported. 14, 20 The present survey is limited mainly by the small numbers of patients presenting [haematologica.org]
It simply means that this specific mutation has not been found, although other mutations may be present. [clevelandheartlab.com]
Poster presented at ISBT, Dubai, UAE, 2016 September. [molecular.roche.com]
The MTHFR A1298C variant is also associated with increased homocysteine and lowered plasma folate levels when present in combination with the C677T mutation. This test detects the above described mutations in Factor II gene. [ayassbioscience.com]
Footnotes ↵ 1 present address: Max McGee National Research Center for Juvenile Diabetes, Milwaukee, WI 53226 ↵ 2 present address: GeneInsight LLC, Madison, WI 53711 ↵ 3 present address: Waisman Center, University of Wisconsin-Madison, Madison, WI 53792 [clinchem.aaccjnls.org]
Entire Body System
- Swelling
Suddenly, I noticed a very slight swelling in my left leg. My thigh felt flushed with blood and enormous, though the swelling was barely perceptible to others. My husband insisted I visit the ER and I reluctantly agreed. [clotcare.com]
Symptoms of a DVT are pain, swelling, and redness in the affected arm or leg. Symptoms of a pulmonary embolism include: shortness of breath chest pain dizziness cough swelling of the legs DVT can damage the veins and lead to disability. [healthline.com]
Signs of DVT include pain, swelling, and/or redness of the leg or arm; the area may also feel warm to the touch. [circ.ahajournals.org]
If you have a Deep Vein Thrombosis or DVT you will notice: Pain or tenderness in your arm or leg – often described as a cramp or Charley horse – with one or more of the following: Swelling Red or purple skin color Warm to the touch If a piece of a DVT [stoptheclot.org]
Typically blood clots occur in the deep veins and are considered dangerous because they can damage the veins, and lead to pain and swelling. In some instances it can even result in disability. The risk factor of DVT increases with age. [hubpages.com]
- Disability
Please enable JS and disable any ad blocker [cairn.info]
DVTs are dangerous because they can damage the veins, leading to pain and swelling, and sometimes to disability. PEs can damage the blood vessels in the lung, leading to chest pain and shortness of breath, and are sometimes life-threatening. [circ.ahajournals.org]
In some instances it can even result in disability. The risk factor of DVT increases with age. Women increase their risk of (DVT) when using estrogen-containing oral contraceptives. [hubpages.com]
Symptoms of a pulmonary embolism include: shortness of breath chest pain dizziness cough swelling of the legs DVT can damage the veins and lead to disability. A pulmonary embolism is a serious condition and can be fatal. [healthline.com]
Moreover, individuals who carry the mutation can pass it on to their offspring. [8] The mutation increases the risk of developing deep vein thrombosis (DVT), [9] which can damage veins throughout the body, causing pain and swelling and sometimes leading to disability [en.wikipedia.org]
- Falling
I went off the baby aspirin 2 weeks before having ankle surgery last fall because of standard surgical pre-cautions. Obviously, I didn't know I was Factor II at that point or the surgeon might have done things differently to prevent a blood clot. [dailystrength.org]
Hematologist explained to me that there are 60% of blood markers known and 40% unknown, so his assumption was we fall in that 40%. [my.clevelandclinic.org]
Plasma prothrombin concentration is not a reliable marker for prothrombin G20210A mutations because the range of plasma concentrations of prothrombin in heterozygotes may fall within the normal range. [medicalpolicies.amerigroup.com]
- Chest Discomfort
The American Heart Association published this list of warning signs: Chest discomfort. Most heart attacks involve discomfort in the center of the chest that lasts more than a few minutes, or that goes away and comes back. [hubpages.com]
- Infertility
Substitution of adenine for guanine at position 20210 of the prothrombin gene, known as the prothrombin 20210a mutation, prothrombin 20210 mutation and less precisely just factor II mutation, leads to hypercoagulability and may be a factor that contributes to infertility [hubpages.com]
Gastrointestinal
- Nausea
Other signs may include breaking out in a cold sweat, nausea or lightheadedness For more information and some great references on this top, please read the article published by the American Heart Association. [hubpages.com]
Liver, Gall & Pancreas
- Protein S Deficiency
Family Member Testing for Thrombophilia February 2nd, 2011 | Clotting disorder - thrombophilia, Factor V Leiden, Inherited (genetic), Protein C deficiency, Protein S deficiency, Prothrombin 20210 mutation, Thrombophilia lab tests | 4 Comments » Stephan [patientblog.clotconnect.org]
Inherited causes of thrombosis Factor V Leiden Prothrombin 202010 Mutation Hyperhomocysteinemia Elevated Clotting Factor Levels Antithrombin Protein C Deficiency Skin Necrosis Protein S Deficiency Thrombomodulin Heparin Cofactor II Tissue Factor Pathway [ihtc.org]
Castaman G, Tosetto A, Cappellari A, Ruggeri M, Rodeghiero F: The A20210 allele in the prothrombin gene enhances the risk of venous thrombosis in carriers of inherited protein S deficiency. [karger.com]
As with protein C deficiency, homozygous protein S deficiency results in neonatal purpura fulminans (6). [womenshealthsection.com]
C deficiency, protein S deficiency, and antiphospholipid antibody syndrome(s)." 1 Definition and confirmation of the prothrombin (G20210A) gene polymorphism is necessary for genetic counseling of patients for themselves and family members. [autogenomics.com]
Cardiovascular
- Thrombosis
2.3% of the general population is heterozygous in contrast with 6.2% of patients with venous thrombosis and 18% with familial venous thrombosis. [clevelandheartlab.com]
Patients heterozygous for F2 G20210A who also carry factor V Leiden R506Q have an earlier age of VTE and a higher risk of recurrent thrombosis than heterozygotes for either single gene mutation. [genoscientific.com]
DNA testing for the prothrombin mutation is recommended for all patients with deep vein thrombosis, pulmonary embolism, cerebral vein thrombosis, and premature ischemic stroke, and women with premature myocardial infarction. [hubpages.com]
Discussion Thrombosis occurs as a result of disruptions in the blood clotting system. [omicsonline.org]
Increased plasma homocysteine levels is another important risk factor for venous thrombosis. [ayassbioscience.com]
- Chest Pain
[…] or swelling may be due to a DVT, or that chest pain and shortness of breath may be due to a PE. [circ.ahajournals.org]
If you have a Pulmonary Embolism or PE (lung clot), you may experience: Hard to breath or shortness of breath Chest pain – especially when trying to breathe Rapid or racing heart beat Fainting or passing out Resources for More Information You can find [stoptheclot.org]
Symptoms of a DVT are pain, swelling, and redness in the affected arm or leg. Symptoms of a pulmonary embolism include: shortness of breath chest pain dizziness cough swelling of the legs DVT can damage the veins and lead to disability. [healthline.com]
- Heart Disease
[…] the G20210A variant with thromboembolism in general, several studies have found that this variant significantly (2 - 20 fold) increases the risk for ischemic stroke (aka cerebral ischemia) in individuals with patent foramen ovale (PFO), or hole in the heart [snpedia.com]
Coronary heart disease is America's No. 1 killer. It is very important to be tested if you have had any problem with deep vein clots or a history of heart attacks in your family. Women are at a higher risk when taking birth control. [hubpages.com]
Skin
- Sweating
Other signs may include breaking out in a cold sweat, nausea or lightheadedness For more information and some great references on this top, please read the article published by the American Heart Association. [hubpages.com]
Psychiatrical
- Suggestibility
Studies suggest that more than half of pregnant women who develop a VTE have an underlying thrombophilia disorder. [newyorkfertilityservices.com]
I'm willing to find out through more tests, or whatever you suggest. [my.clevelandclinic.org]
Useful For Suggests clinical disorders or settings where the test may be helpful Direct mutation analysis for the prothrombin (PT) G20210A allele should be reserved for patients with clinically suspected thrombophilia. [mayomedicallaboratories.com]
It has been suggested that the frequency of bleeding and the degree of joint damage is not only dependent on the severity of the disease, but also on the corresponding factor F VIII gene mutation, or the development of inhibitors. [haematologica.org]
Neurologic
- Stroke
Geno Mag Summary (A;A) 7 6.74x risk of thrombosis; 2-20x risk for cerebral stroke if PFO+ (A;G) 2.8 2.8x risk of thrombosis; higher risk for cerebral stroke if PFO+ (G;G) 0 normal/common risk of thrombosis rs1799963 is a SNP far more commonly known as [snpedia.com]
Neonatal stroke occurs in approximately 1 of every 4,000 live births. In addition, 1 in every 2,300 to 4,000 newborns is given a diagnosis of ischemic stroke in the nursery (26). [womenshealthsection.com]
However, most studies indicated that the prothrombin mutation is not a risk factor for heart attack and stroke in middle and older age. [thrombophiliac.com]
Stroke 2012; 43:1511-1517. Despina has two hypercoagulable conditions. A hypercoagulable condition is a condition that increases the risk of blood clotting. [clotcare.com]
DNA testing for the prothrombin mutation is recommended for all patients with deep vein thrombosis, pulmonary embolism, cerebral vein thrombosis, and premature ischemic stroke, and women with premature myocardial infarction. [hubpages.com]
- Forgetful
Please do not forget to have your physician fill out and fax us the Order Form. SKU: 1239 [ayassbioscience.com]
Sorry I forget to include that in my original post. I will check out the gene mutattion web site you recommended. Thanks. I had already found NATT and StoptheClot right after my diagnosis and think they have tons of info that has helped educate me. [dailystrength.org]
- Dizziness
Symptoms of a pulmonary embolism include: shortness of breath chest pain dizziness cough swelling of the legs DVT can damage the veins and lead to disability. A pulmonary embolism is a serious condition and can be fatal. [healthline.com]
- Irritability
On physical examination, the patient was hemodynamically stable, with diffuse abdominal pain but without any signs of peritoneal irritation. No palpable masses or organ enlargement. [scielo.isciii.es]
Workup
Laboratory studies for factor II deficiency include coagulation studies and clotting factor assays (see Workup ). [emedicine.medscape.com]
Treatment
[…] centres in Germany have been treated by the same medical teams using the same treatment protocols. [haematologica.org]
Also, non-hormonal treatments without thrombotic risk are available to lessen postmenopausal symptoms or to treat osteoporosis. [circ.ahajournals.org]
Transforming testing & treatment together Giving you confidence in the performance of our systems and assays in your laboratory Our commitment to quality As pioneers of polymerase chain reaction (PCR) technology, we continue to demonstrate our commitment [molecular.roche.com]
Your fluorescence-based test system for the reliable detection of the Factor II mutation (prothrombin G20210A mutation) Your benefits with Fluoro Type ® Factor II No limitation: Genetic detection can also be done under anticoagulation treatment and thus [hain-lifescience.de]
Is there any treatment for Prothrombin Gene Mutation? No treatment to change genes is currently available. [melbournehaematology.com.au]
Prognosis
Genomic classification and prognosis in acute myeloid leukemia. N Engl J Med 2016 ; 374 : 2209-21. (3iiiD) 8)Döhner H, et al. Diagnosis and management of AML in adults : 2017 ELN recommendations from an international expert panel. [jshem.or.jp]
Etiology
[…] is characterized by reduced activity and normal antigen levels Epidemiology Rare; fewer than 100 cases have been reported Prevalence rate of approximately 1:2,000,000 in the general population Sites Mucocutaneous and soft tissue bleeding (see below) Etiology [pathologyoutlines.com]
Identification of inherited thrombophilias has increased our understanding of one potential etiology for venous thromboembolism (VTE) and of hypercoagulability in general. [womenshealthsection.com]
All studies conform to the multifactorial etiology of the disease. The risk of the thromboembolic disease increases in proportion to the number of risk factors [ 9 ]. [omicsonline.org]
[…] aspartic acid to glutamine substitution at position 552. [31] Two novel mutations in the prothrombin gene were delineated in association with compound heterozygous type 1/2 prothrombin deficiency. [32] Acquired factor II deficiency has several possible etiologies [emedicine.medscape.com]
Epidemiology
Homocysteine, MTHFR and risk of venous thrombosis: A meta-analysis of published epidemiological studies. J Thromb Haemost 2005; 3 :292–299. 15. Bernstein, CN, Blanchard, JF, Rawsthorne, P, et al. [nature.com]
Jadaon MM (2011) Epidemiology of Prothrombin G20210A Mutation in the Mediterranean Region. Mediterr J Hematol Infect Dis 3: e2011054. [omicsonline.org]
[…] of prothrombin and is characterized by reduced prothrombin activity and antigen levels Dysprothrombinemia (type II deficiency) is the synthesis of dysfunctional prothrombin molecules and is characterized by reduced activity and normal antigen levels Epidemiology [pathologyoutlines.com]
"Epidemiology of factor V Leiden: clinical implications". Seminars in Thrombosis and Hemostasis. 24 (4): 367–79. doi : 10.1055/s-2007-996025. PMID 9763354. ^ Bertina RM, Koeleman BP, Koster T, et al. (May 1994). [en.wikipedia.org]
Data from epidemiological studies suggest an increased risk of miscarriage, and of cardiac malformation and gastroschisis after use of a prostaglandin synthesis inhibitor in early pregnancy. [sarcinapesaptamani.ro]
Pathophysiology
Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Venous thromboembolism (VTE) is a syndrome of deep vein thrombosis and its complication, pulmonary embolism. [mayomedicallaboratories.com]
"Thrombotic risk factors: basic pathophysiology". Crit Care Med. 38 (2 Suppl): S3–9. doi : 10.1097/CCM.0b013e3181c9cbd9. PMID 20083911. ^ a b c Poort SR, Rosendaal FR, Reitsma PH, Bertina RM (1996). [en.wikipedia.org]
Abnormalities of prothrombin: a review of the pathophysiology, diagnosis, and treatment. Haemophilia. 2008 Nov. 14 (6):1159-63. [Medline]. Klincheva M, Vilarova EA, Angjusheva T, Milev I, Idoski E, Mitrev Z. [emedicine.medscape.com]
The pathophysiology is uncertain but is thought to involve thrombosis in the uteroplacental circulation, leading to infarction and placental insufficiency. [womenshealthsection.com]
Prevention
This study is… Follow us on Twitter In the News: According to doctors, patients with atrial fibrillation, a common heart rhythm disorder, should take newer blood thinners to prevent stroke instead of warfarin: https://t.co/2vuN7cae8J Load More... [stoptheclot.org]
ClotCare is a member organization of the Coalition to Prevent Deep Vein Thrombosis. Click here to learn more about the Coalition to Prevent Deep Vein Thrombosis and DVT Awareness Month, which is held each March. [clotcare.com]
A vitamin K deficiency caused by antibiotics and intestinal disorders (that prevent absorption), can cause a temporary FII deficiency. Newborns may be born with a vitamin K deficiency. [hemophilia.ca]
It can be caused by something preventing blood from circulating or clotting normally. [dailystrength.org]
Reducing or eliminating risk factors for developing a blood clot is the best way to prevent complications. [healthline.com]