Learn About Congenital Antithrombin 3 Deficiency

What is the definition of Congenital Antithrombin 3 Deficiency?

Congenital antithrombin III deficiency is a genetic disorder that causes the blood to clot more than normal.

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What are the alternative names for Congenital Antithrombin 3 Deficiency?

Deficiency - antithrombin III - congenital; Antithrombin III deficiency - congenital

What are the causes of Congenital Antithrombin 3 Deficiency?

Antithrombin III is a protein in the blood that blocks abnormal blood clots from forming. It helps the body keep a healthy balance between bleeding and clotting. Congenital antithrombin III deficiency is an inherited disease. It occurs when a person receives one abnormal copy of the antithrombin III gene from a parent with the disease.

The abnormal gene leads to a low level of the antithrombin III protein. This low level of antithrombin III can cause abnormal blood clots (thrombi) that can block blood flow and damage organs.

People with this condition will often have a blood clot at a young age. They are also likely to have family members who have had a blood clotting problem.

What are the symptoms of Congenital Antithrombin 3 Deficiency?

People will usually have symptoms of a blood clot. Blood clots in the arms or legs usually cause swelling, redness, and pain. When a blood clot breaks off from where it formed and travels to another part of the body, it is called a thromboembolism. Symptoms depend on where the blood clot travels to. A common place is the lung, where the clot can cause a cough, shortness of breath, pain while taking deep breaths, chest pain, and even death. Blood clots that travel to the brain can cause a stroke.

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What are the current treatments for Congenital Antithrombin 3 Deficiency?

A blood clot is treated with blood-thinning medicines (also called anticoagulants). How long you need to take these drugs depends on how serious the blood clot was and other factors. Discuss this with your provider.

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What are the support groups for Congenital Antithrombin 3 Deficiency?

More information and support for people with congenital antithrombin III deficiency and their families can be found at:

  • National Organization for Rare Disorders -- rarediseases.org/rare-diseases/antithrombin-deficiency/
  • MedlinePlus -- medlineplus.gov/genetics/condition/hereditary-antithrombin-deficiency/
  • National Blood Clot Alliance -- www.stoptheclot.org/programs-services/
What is the outlook (prognosis) for Congenital Antithrombin 3 Deficiency?

Most people have a good outcome if they stay on anticoagulant medicines.

What are the possible complications of Congenital Antithrombin 3 Deficiency?

Blood clots can cause death. Blood clots in the lungs are very dangerous.

When should I contact a medical professional for Congenital Antithrombin 3 Deficiency?

See your provider if you have symptoms of this condition.

How do I prevent Congenital Antithrombin 3 Deficiency?

Once a person is diagnosed with antithrombin III deficiency, all close family members should be screened for this disorder. Blood thinning drugs can prevent blood clots from forming and prevent complications from clotting.

Venous blood clot
What are the latest Congenital Antithrombin 3 Deficiency Clinical Trials?
A Phase II/III Pivotal Trial Evaluating the Safety, Pharmacokinetic Properties and Efficacy of a Plasma-Derived Anti-thrombin III Concentrate With Administration in Surgery, Pregnancy and Thromboembolic or Thrombotic Events

Summary: To assess the safety, pharmacokinetics and efficacy of a plasma-derived AT-III concentrate in the treatment of subjects with congenital AT-III deficiency.

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What are the Latest Advances for Congenital Antithrombin 3 Deficiency?
Clinical and genetic analysis of a pedigree affected with type I hereditary antithrombin deficiency due to a g.2736dupT variant of the AT gene.
Successful treatment of a massive sinus thrombosis in a Chinese woman with antithrombin III deficiency: a case report and review of the literature.
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Successful administration of recombinant human antithrombin in a pregnant Japanese woman with hereditary antithrombin deficiency.
Who are the sources who wrote this article ?

Published Date: January 19, 2021
Published By: Todd Gersten, MD, Hematology/Oncology, Florida Cancer Specialists & Research Institute, Wellington, FL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

What are the references for this article ?

Anderson JA, Hogg KE, Weitz JI. Hypercoagulable states. In: Hoffman R, Benz EJ, Silberstein LE, et al, eds. Hematology: Basic Principles and Practice. 7th ed. Philadelphia, PA: Elsevier; 2018:chap 140.

Mhyre JM. Hematologic and coagulation disorders. In: Chestnut DH, Wong CA, Tsen LC, et al, eds. Chestnut's Obstetric Anesthesia: Principles and Practice. 6th ed. Elsevier; 2020:chap 44.

Schafer AI. Thrombotic disorders: hypercoagulable states. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 26th ed. Philadelphia, PA: Elsevier; 2020:chap 73.