Antithrombin III deficiency pathophysiology: Difference between revisions
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__NOTOC__ | __NOTOC__ | ||
{{Antithrombin III deficiency}} | {{Antithrombin III deficiency}} | ||
{{CMG}} | {{CMG}} ; {{AE}} {{RG}} | ||
==Overview== | ==Overview== | ||
==Pathophysiology== | ==Pathophysiology== | ||
*[[Antithrombin III]] is 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. | ===Physiology=== | ||
*[[Antithrombin III]] is 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. | *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. | ||
===Pathogenesis=== | |||
*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. In people with this condition, a blood clot may occur without the common risk factors of pregnancy, lack of movement (due to surgery or trauma), or use of oral birth control pills. | *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. In people with this condition, a blood clot may occur without the common risk factors of pregnancy, lack of movement (due to surgery or trauma), or use of oral birth control pills. | ||
*The gene for antithrombin is located on human | |||
==Genetics== | |||
* 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. | |||
*The gene for antithrombin is located on human chromosome 1. | |||
==References== | ==References== | ||
Latest revision as of 14:47, 4 August 2020
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Antithrombin III deficiency Microchapters |
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Differentiating Antithrombin III deficiency from other Diseases |
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Antithrombin III deficiency pathophysiology On the Web |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] ; Associate Editor(s)-in-Chief: Ramyar Ghandriz MD[2]
Overview
Pathophysiology
Physiology
- Antithrombin III is 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.
Pathogenesis
- 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. In people with this condition, a blood clot may occur without the common risk factors of pregnancy, lack of movement (due to surgery or trauma), or use of oral birth control pills.
Genetics
- 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.
- The gene for antithrombin is located on human chromosome 1.