Medical Encyclopedia

 

Medical Encyclopedia

Other encyclopedia topics:  A-Ag  Ah-Ap  Aq-Az  B-Bk  Bl-Bz  C-Cg  Ch-Co  Cp-Cz  D-Di  Dj-Dz  E-Ep  Eq-Ez  F  G  H-Hf  Hg-Hz  I-In  Io-Iz  J  K  L-Ln  Lo-Lz  M-Mf  Mg-Mz  N  O  P-Pl  Pm-Pz  Q  R  S-Sh  Si-Sp  Sq-Sz  T-Tn  To-Tz  U  V  W  X  Y  Z  0-9 

Congenital antithrombin III deficiency

Contents of this page:

Illustrations

Venous blood clot
Venous blood clot

Alternative Names    Return to top

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

Definition    Return to top

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

Causes    Return to top

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.

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.

Symptoms    Return to top

Patients will usually have symptoms of a blood clot, including:

Exams and Tests    Return to top

A physical examination may show:

The diagnosis is made by checking for low levels of antithrombin III in the patient's blood.

Treatment    Return to top

A 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.

Outlook (Prognosis)    Return to top

Most patients have a good outcome if they stay on anticoagulant medications.

Possible Complications    Return to top

Blood clots can cause death, especially if they are in the lungs.

When to Contact a Medical Professional    Return to top

See your health care provider if you have symptoms of this condition.

Prevention    Return to top

Because 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.

References    Return to top

Schafer A. Thrombotic disorders: Hypercoagulable states. In: Goldman L, Ausiello D. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier;2007:chap 182.

Update Date: 3/2/2009

Updated by: David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washington School of Medicine; and Yi-Bin Chen, MD, Leukemia/Bone Marrow Transplant Program, Massachusetts General Hospital. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

A.D.A.M. Logo

The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only -- they do not constitute endorsements of those other sites. Copyright 1997-2009, A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.