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Congenital antithrombin III deficiency is a genetic disorder that causes the blood to clot more than normal.
Alternative NamesDeficiency - antithrombin III - congenital; Antithrombin III deficiency - congenital
Causes, incidence, and risk factorsAntithrombin IIIis a protein in the blood that naturally blocks blood clots from forming. Congenital antithrombin III deficiency is an inherited disease. It occurs when a person receives one abnormal copy of a gene from a parent with the disease.
The abnormal gene leads to low levels of antithrombin III. These low levels of antithrombin III can cause abnormal blood clots (thrombi) that may damage organs.
Often, patients with this condition will have a blood clot at a young age and will have a family member who has also experienced a blood clotting episode.
SymptomsPatients will usually have symptoms of a blood clot, including:
- Coughing up blood
- Fainting
- Shortness of breath and pain when taking deep breaths
- Swelling of one leg
A physical examination may show:
- A fast heart rate
- A swollen foot or ankle
The diagnosis is made by checking for low levels of antithrombin III in the patient's blood.
TreatmentA blood clot is treated with blood thinning medications or anticoagulants. How long you need to take these medications depends on how serious the blood clot was and other factors. Discuss this with your health care provider.
Expectations (prognosis)Most patients have a good outcome if they stay on anticoagulant medications.
ComplicationsBlood clots can cause death, especially if they are in the lungs.
Calling your health care providerSee your health care provider if you have symptoms of this condition.
PreventionBecause this is an inherited condition, there is no way to prevent it. However, once a patient is diagnosed with antithrombin III deficiency, all close family members should be screened.
ReferencesSchafer A. Thrombotic disorders: Hypercoagulable states. In: Goldman L, Ausiello D. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier;2007:chap 182.
What else can I help you with?
What are symptoms of Antithrombin III deficiency?
Symptoms include obstruction of a blood vessel by a clot (thromboembolic disease), vein inflammation (phlebitis), and ulcers of the lower parts of the legs
What is the name of the natural anticoagulant found in the blood?
Heparin, the natural anticoagulant contained in basophil and mast cell granules. It inhibits thrombin by enhancing the activity of antithrombin III. Heparin also inhibits the intrinsic pathway. antithrombin III and protein c inhibit the activity of other intrinsic pathway procoagulants.
Why blood does not clot in circulation?
I. Endothelial surface factors- a) Smoothness of endothelial surface,which prevents contact activation of intrinsic system. b) Layer of glycocalyx on endothelium. c) a protein bound with the endothelium membrane, thrombomodulin, which binds thrombin. II. Antithrombin action of fibrin & Antithrombin-III a) when a clot is forming, about 85-90% of thrombin becomes adsorbed to fibrin fibers. b) some thrombin 10-15%, combines with antithrombin-III, which urther blocks effect of thrombin on fibrinogen. III. Heparin- heparin is a highly negatively charged conjugated polysaccharide.
What is Type III of stress incontinence?
Type III: Hypermobility of the urethra where the primary source of incontinence is the inability of the sphincter muscles to keep the bladder closed. This is due to weakness or deficiency in the intrinsic sphincter muscles
What is your body's natural anticoagulant?
Here are some natural anti-coagulants:1. Protein C and protein SActivated protein C and protein S can digest factors Va and VIIIa.2. Antithrombin IIIAntithrombin III is a circulating protease which blocks the activity of thrombin (factor II) as well as some other clotting factors. Antithrombin III is faciliated by heparin, a substance present in the plasma and on the surface of endothelial cells.3. Tissue factor pathway inhibitorsThey are secreted by endothelial cells. These inhibitors bind to tissue factor/factor VIIA complexes. They inhibit the ability to produce factor Xa and the subsequent formation of thrombin.
What is the chemical that prevents clotting within the circulatory system?
The chemical that prevents clotting in the circulatory system is called heparin. Heparin is a naturally occurring anticoagulant that inhibits the formation of blood clots by potentiating the action of antithrombin III, which inactivates thrombin and other clotting factors.
What are the properties and uses of iron (III) hydroxide?
Iron (III) hydroxide is a chemical compound that is a reddish-brown solid. It is insoluble in water and has a low solubility in acids. Iron (III) hydroxide is commonly used in water treatment to remove impurities and as a pigment in paints and dyes. It also has medical applications, such as in the treatment of iron deficiency anemia.
What causes Sanfilippo syndrome Type D?
caused by a deficiency in the enzyme N-acetylglucosamine-6-sulfatase, due to mutations in the GNS gene located on chromosome 12. This form of MPS III is also rare.
Is there a gene therapy available for galactosemia patients?
Galactosemia is a deficiency in the enzymes galactokinase or uridyl transferase, thereby affecting the synthesis and degradation of glycogen synthesis/galactose metabolism. At this point, there is no gene therapy available for treatment - treatment is only through strict dietary control.
Which is the anti-coagulant substance in blood?
The primary anticoagulant substance in blood is heparin, which is produced by mast cells and basophils. Heparin works by enhancing the activity of antithrombin III, a protein that inhibits thrombin and other clotting factors, thus preventing excessive blood clotting. Additionally, other anticoagulants like protein C and protein S also play crucial roles in regulating coagulation.
What is the medical term meaning Abnormal condition of blood clots?
Thrombosis is the medical term meaning abnormal condition of blood clots.Thrombosis is the medical term meaning condition of blood clots. A generic condition resulting in increased likelihood of producing blood clots is called a hypercoagulable disorder.Most people will develop blood clots under certain conditions, such as after surgery, sometimes after long trips, or with certain conditions which cause you to be more likely to have blood clots - pregnancy, taking birth control pills, etc.Clotting is predisposed when any of three conditions are present: endothelial injury, stasis, or hypercoagulability. These three conditions together are called Virchow's triad.There are certain hypercoagulable disorders that are heritable. These include antithrombin III deficiency, thrombin gene mutation, anticardiolipin antibody, lupus anticoagulant, Factor V Leiden deficiency, Protein C or S deficiency, and methyltetrahydrofolate reductase (MTHFR) deficiency.All these conditions predispose a person to develop venous thrombosis, and if several DVTs develop, the person may need to be on lifelong anticoagulation with warfarin to prevent pulmonary emboli and pulmonary hypertension.Thrombrosis.
What are the properties and uses of iron III sulfate?
Iron III sulfate, also known as ferric sulfate, is a chemical compound with the formula Fe2(SO4)3. It is a reddish-brown solid that is soluble in water. Iron III sulfate is commonly used as a coagulant in water treatment processes to remove impurities. It is also used in the production of pigments, inks, and dyes, as well as in the manufacturing of fertilizers and chemicals. Additionally, iron III sulfate is used in the medical field as a hematinic agent to treat iron deficiency anemia.
