Antithrombin III deficiency: Difference between revisions
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{{Infobox medical condition | |||
| name = Antithrombin III deficiency | |||
| synonyms = AT III deficiency, Antithrombin deficiency | |||
| field = [[Hematology]] | |||
| symptoms = [[Deep vein thrombosis]], [[pulmonary embolism]], [[thrombophlebitis]] | |||
| complications = [[Thromboembolism]], [[stroke]], [[myocardial infarction]] | |||
| onset = Usually in [[adulthood]] | |||
| duration = [[Chronic (medicine)|Chronic]] | |||
| causes = [[Genetic disorder]], [[acquired]] | |||
| risks = [[Family history]], [[surgery]], [[pregnancy]], [[oral contraceptives]] | |||
| diagnosis = [[Blood test]], [[genetic testing]] | |||
| differential = [[Protein C deficiency]], [[Protein S deficiency]], [[Factor V Leiden]] | |||
| prevention = [[Anticoagulation therapy]], [[lifestyle modification]] | |||
| treatment = [[Heparin]], [[warfarin]], [[direct oral anticoagulants]] | |||
| prognosis = Variable, depends on management | |||
| frequency = 1 in 2000 to 1 in 5000 people | |||
}} | |||
{{Short description|A genetic disorder affecting blood clotting}} | {{Short description|A genetic disorder affecting blood clotting}} | ||
'''Antithrombin III deficiency''' is a [[genetic disorder]] that affects the body's ability to regulate blood clotting. It is characterized by a deficiency in [[antithrombin]], a protein that helps prevent abnormal blood clot formation. This condition can lead to an increased risk of [[thrombosis]], which is the formation of blood clots within blood vessels. | '''Antithrombin III deficiency''' is a [[genetic disorder]] that affects the body's ability to regulate blood clotting. It is characterized by a deficiency in [[antithrombin]], a protein that helps prevent abnormal blood clot formation. This condition can lead to an increased risk of [[thrombosis]], which is the formation of blood clots within blood vessels. | ||
==Pathophysiology== | ==Pathophysiology== | ||
Antithrombin is a [[serine protease inhibitor]] (serpin) that plays a crucial role in the regulation of the [[coagulation cascade]]. It primarily inhibits [[thrombin]] and [[factor Xa]], which are key enzymes in the clotting process. In individuals with antithrombin III deficiency, the reduced levels or activity of antithrombin lead to an increased tendency for blood clot formation, as the inhibitory effect on thrombin and factor Xa is diminished. | Antithrombin is a [[serine protease inhibitor]] (serpin) that plays a crucial role in the regulation of the [[coagulation cascade]]. It primarily inhibits [[thrombin]] and [[factor Xa]], which are key enzymes in the clotting process. In individuals with antithrombin III deficiency, the reduced levels or activity of antithrombin lead to an increased tendency for blood clot formation, as the inhibitory effect on thrombin and factor Xa is diminished. | ||
==Types== | ==Types== | ||
Antithrombin III deficiency can be classified into two main types: | Antithrombin III deficiency can be classified into two main types: | ||
* '''Type I deficiency''': This is a quantitative deficiency where there is a reduced level of antithrombin in the blood. | * '''Type I deficiency''': This is a quantitative deficiency where there is a reduced level of antithrombin in the blood. | ||
* '''Type II deficiency''': This is a qualitative deficiency where the level of antithrombin is normal, but its function is impaired. | * '''Type II deficiency''': This is a qualitative deficiency where the level of antithrombin is normal, but its function is impaired. | ||
==Genetics== | ==Genetics== | ||
Antithrombin III deficiency is usually inherited in an [[autosomal dominant]] manner, meaning that a single copy of the mutated gene can cause the disorder. The gene responsible for antithrombin production is the [[SERPINC1]] gene, located on chromosome 1. Mutations in this gene can lead to either type I or type II deficiency. | Antithrombin III deficiency is usually inherited in an [[autosomal dominant]] manner, meaning that a single copy of the mutated gene can cause the disorder. The gene responsible for antithrombin production is the [[SERPINC1]] gene, located on chromosome 1. Mutations in this gene can lead to either type I or type II deficiency. | ||
==Clinical Manifestations== | ==Clinical Manifestations== | ||
Individuals with antithrombin III deficiency may experience recurrent episodes of [[venous thromboembolism]] (VTE), which includes conditions such as [[deep vein thrombosis]] (DVT) and [[pulmonary embolism]] (PE). Symptoms of DVT may include swelling, pain, and redness in the affected limb, while PE may present with shortness of breath, chest pain, and coughing up blood. | Individuals with antithrombin III deficiency may experience recurrent episodes of [[venous thromboembolism]] (VTE), which includes conditions such as [[deep vein thrombosis]] (DVT) and [[pulmonary embolism]] (PE). Symptoms of DVT may include swelling, pain, and redness in the affected limb, while PE may present with shortness of breath, chest pain, and coughing up blood. | ||
==Diagnosis== | ==Diagnosis== | ||
Diagnosis of antithrombin III deficiency involves measuring the level and activity of antithrombin in the blood. A reduced level or activity suggests the presence of the deficiency. Genetic testing can also be performed to identify mutations in the SERPINC1 gene. | Diagnosis of antithrombin III deficiency involves measuring the level and activity of antithrombin in the blood. A reduced level or activity suggests the presence of the deficiency. Genetic testing can also be performed to identify mutations in the SERPINC1 gene. | ||
==Management== | ==Management== | ||
Management of antithrombin III deficiency focuses on preventing thrombotic events. This may include the use of [[anticoagulant]] medications such as [[heparin]] or [[warfarin]]. In some cases, antithrombin concentrates may be administered, especially during high-risk situations such as surgery or pregnancy. | Management of antithrombin III deficiency focuses on preventing thrombotic events. This may include the use of [[anticoagulant]] medications such as [[heparin]] or [[warfarin]]. In some cases, antithrombin concentrates may be administered, especially during high-risk situations such as surgery or pregnancy. | ||
==Prognosis== | ==Prognosis== | ||
With appropriate management, individuals with antithrombin III deficiency can lead normal lives. However, they remain at an increased risk for thrombotic events, and lifelong anticoagulation therapy may be necessary. | With appropriate management, individuals with antithrombin III deficiency can lead normal lives. However, they remain at an increased risk for thrombotic events, and lifelong anticoagulation therapy may be necessary. | ||
==Related pages== | ==Related pages== | ||
* [[Thrombophilia]] | * [[Thrombophilia]] | ||
| Line 32: | Line 40: | ||
* [[Deep vein thrombosis]] | * [[Deep vein thrombosis]] | ||
* [[Pulmonary embolism]] | * [[Pulmonary embolism]] | ||
[[Category:Genetic disorders]] | [[Category:Genetic disorders]] | ||
[[Category:Hematology]] | [[Category:Hematology]] | ||
[[Category:Coagulation system disorders]] | [[Category:Coagulation system disorders]] | ||
Latest revision as of 22:54, 3 April 2025
| Antithrombin III deficiency | |
|---|---|
| Synonyms | AT III deficiency, Antithrombin deficiency |
| Pronounce | N/A |
| Specialty | N/A |
| Symptoms | Deep vein thrombosis, pulmonary embolism, thrombophlebitis |
| Complications | Thromboembolism, stroke, myocardial infarction |
| Onset | Usually in adulthood |
| Duration | Chronic |
| Types | N/A |
| Causes | Genetic disorder, acquired |
| Risks | Family history, surgery, pregnancy, oral contraceptives |
| Diagnosis | Blood test, genetic testing |
| Differential diagnosis | Protein C deficiency, Protein S deficiency, Factor V Leiden |
| Prevention | Anticoagulation therapy, lifestyle modification |
| Treatment | Heparin, warfarin, direct oral anticoagulants |
| Medication | N/A |
| Prognosis | Variable, depends on management |
| Frequency | 1 in 2000 to 1 in 5000 people |
| Deaths | N/A |
A genetic disorder affecting blood clotting
Antithrombin III deficiency is a genetic disorder that affects the body's ability to regulate blood clotting. It is characterized by a deficiency in antithrombin, a protein that helps prevent abnormal blood clot formation. This condition can lead to an increased risk of thrombosis, which is the formation of blood clots within blood vessels.
Pathophysiology[edit]
Antithrombin is a serine protease inhibitor (serpin) that plays a crucial role in the regulation of the coagulation cascade. It primarily inhibits thrombin and factor Xa, which are key enzymes in the clotting process. In individuals with antithrombin III deficiency, the reduced levels or activity of antithrombin lead to an increased tendency for blood clot formation, as the inhibitory effect on thrombin and factor Xa is diminished.
Types[edit]
Antithrombin III deficiency can be classified into two main types:
- Type I deficiency: This is a quantitative deficiency where there is a reduced level of antithrombin in the blood.
- Type II deficiency: This is a qualitative deficiency where the level of antithrombin is normal, but its function is impaired.
Genetics[edit]
Antithrombin III deficiency is usually inherited in an autosomal dominant manner, meaning that a single copy of the mutated gene can cause the disorder. The gene responsible for antithrombin production is the SERPINC1 gene, located on chromosome 1. Mutations in this gene can lead to either type I or type II deficiency.
Clinical Manifestations[edit]
Individuals with antithrombin III deficiency may experience recurrent episodes of venous thromboembolism (VTE), which includes conditions such as deep vein thrombosis (DVT) and pulmonary embolism (PE). Symptoms of DVT may include swelling, pain, and redness in the affected limb, while PE may present with shortness of breath, chest pain, and coughing up blood.
Diagnosis[edit]
Diagnosis of antithrombin III deficiency involves measuring the level and activity of antithrombin in the blood. A reduced level or activity suggests the presence of the deficiency. Genetic testing can also be performed to identify mutations in the SERPINC1 gene.
Management[edit]
Management of antithrombin III deficiency focuses on preventing thrombotic events. This may include the use of anticoagulant medications such as heparin or warfarin. In some cases, antithrombin concentrates may be administered, especially during high-risk situations such as surgery or pregnancy.
Prognosis[edit]
With appropriate management, individuals with antithrombin III deficiency can lead normal lives. However, they remain at an increased risk for thrombotic events, and lifelong anticoagulation therapy may be necessary.
