Disease Information for Antithrombin III deficiency, familial

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Clinical Manifestations
Signs & Symptoms
Signs of phlebitis in leg
Moro Reflex unilateral Abnormal
Stroke Syndrome Child
Stroke syndrome/signs
Clinical Presentation & Variations
Presentation/Deep Vein Thrombosis Young Recurrent
Presentation/Thrombophlebitis Hereditary Recurrent
Presentation/Pulmonary Embolism Recurrent
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Population/Pediatrics population
Family History
Family history/Thrombosis/DVT/Deaths
Sex & Age Groups
Population/Child
Population/Children/all
Laboratory Tests
Abnormal Lab Findings - Decreased
Antithrombin III (Lab)
Abnormal Lab Findings - Increased
Fibrin Degredation Product (FDP) (Lab)
Fibrin Split Products/FSP/Dimers/Monomers (Lab)
FibrinPeptide A
Soluble Fibrin Monomers [LAB]
Associated Diseases & Rule outs
Rule Outs
Antiphospholipid Syndrome/APLS
Associated Disease & Complications
Cerebral vascular accident
Cerebral vein thrombosis/phlebitis
Heparin resistance syndrome
Hypercoagulability/Thrombophilia
Mesenteric vein thrombosis
Migratory superficial phlebitis
Pulmonary embolism
Purpura fulminans
Retinal vein thrombosis, central
Splenic infarction
Stroke Syndromes/Atypical causes
Stroke/Child
Thromboembolic disease
Thrombophlebitis Arm/Deep Vein
Thrombophlebitis, deep vein
Transient ischemic attack/cerebral
Warfarin induced/skin necrosis
Hypercoaguability
Disease Mechanism & Classification
Class
CLASS/Hematologic (category)
Pathophysiology
Pathophysiology/Gene locus 1q23-q25
Pathophysiology/Gene locus Chromosome 1
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Hereditary disease/Adult manifestations
Pathophysiology/Antithrombin III defect/deficiency
Pathophysiology/Intravasular coagulation process
Pathophysiology/Spontaneous Coagulation
Pathophysiology/Ischemic optic neuritis
Process
PROCESS/Enzyme defect/Metabolic disorder (ex)
PROCESS/Hereditofamilial (category)
PROCESS/Metabolic/storage disorder (category)
PROCESS/Coagulation derangement/disorder (ex)
PROCESS/Hereditary hypercoagulation/thrombosis disorders (ex)
Synonyms
Synonym
Antithombin III deficiency, ANTITHROMBIN 3 DEFIC, Antithrombin 3 Deficiencies, Antithrombin 3 Deficiency, Antithrombin deficiency, ANTITHROMBIN III DEFIC, Antithrombin III Deficiencies, Antithrombin III deficiency, Antithrombin III deficiency (disorder), AT def Antithrombin defi, AT deficiency Antithrombin deficiency, DEFIC ANTITHROMBIN III, Deficiencies Antithrombin 3, Deficiencies Antithrombin III, Deficiency Antithrombin 3, Deficiency Antithrombin III, Familial, Synonym/Antithrombin deficiency, Synonym/Factor XIV deficiency
Treatment
Drug Therapy - Contraindication
RX/Oral contraceptive
Drug Therapy - Indication
RX/Anticoagulants
RX/Coumarin/derivatives
RX/Warfarin (Coumadin)
Other Treatments
TX/Lifetime anticoagulation
Definition

Antithrombin III Deficiency: Synonyms for this familial thromboembolic, thrombophlenitis syndrome include; AT 3,AT III Deficiency; Thrombophilia, Hereditary Due to AT III; Note Disorder Subdivisions: AT III Variant IA; AT III Variant Ib;Antithrombin III Deficiency, Classical (Type I).

Discussion: Antithrombin III (AT III) deficiency is a blood disorder characterized by the tendency to form clots in the arteries and/or veins (thrombosis); An inherited tendency to thrombosis is known as thrombophilia; Antithrombin III is a substance in the blood that limits the blood"s ability to clot (coagulation); In people with congenital antithrombin III deficiency, there is usually a reduced amount of this substance in the blood due to a genetic abnormality; Antithrombin III deficiency may also be acquired; in such cases, the disorder may be reversible with treatment--------------[NORD 2005]--------------

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Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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