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Congenital Antithrombin III Deficiency


Presentation

  • Abstract Congenital antithrombin III deficiency is an uncommon but important cause of venous thrombosis, usually presenting with recurrent or atypical venous thromboembolism.[ncbi.nlm.nih.gov]
  • In the patients of venous thromboembolism, this disorder has a 4% chance of being present 1.[inrtracker.com]
Sputum
  • The leg clots can travel to the lungs and cause the following symptoms: Productive cough with bloody sputum Feeling weak and commonly passing-out (fainting) Inability to breath properly Tightness of the chest How is Antithrombin III Deficiency Diagnosed[dovemed.com]
Acute Abdomen
  • On January 2, 1995, a 38-year-old man was diagnosed at another hospital as having an acute abdomen. A partial resection of the jejunum was performed because of necrosis of the small intestine due to idiopathic mesenteric venous thrombosis.[jstage.jst.go.jp]
Leg Pain
  • Leg pain. Diagnosis: A physical examination may show: Abnormal lung sounds. Fast breathing. Fast heart rate. Swollen foot or leg. The diagnosis is made by checking for low levels of antithrombin III in the patient's blood.[medigoo.com]
Neglect
  • . Ÿ Never neglect even a minor complaint in a thrombophilic patient (particularly combined genetic defects) for early detection of VTE and avoidance of complication. Ÿ Genetic analysis of high-risk families to allow early detection.[scirp.org]
Slurred Speech
  • There were facial asymmetry on the left side, Lt sided hyposthesia and slurred speech despite good formulation. The patient had severe Right UL tenderness, coldness and pallor.[scirp.org]
Dysarthria
  • Patient started to regain power with improvement regarding dysarthria & facial weakness. Amputation stump was healing. Follow up Trans-cranial Doppler (TCD) and CT angiography showed that MCA starts to recanalize. Figure 2.[scirp.org]

Workup

  • A complete systemic workup including detailed thrombophilia factors was requested among which a reduced level of circulating anti-thrombin III was significant.[jovr.org]
  • Specific laboratory workup for suspected antithrombin III (ATIII) deficiency depends on the clinical setting, which may include: Antithrombin assays: Antithrombin III activity should be measured first.[medigoo.com]
  • Diagnosis Laboratory studies that can be performed in the workup for antithrombin III deficiency include the following: Antithrombin assays Prothrombin time (PT) and activated partial thromboplastin time (aPTT) Protein C (antigen and activity tests) and[emedicine.medscape.com]
Left Anterior Fascicular Block
  • ECG showed Sinus rhythm with frequent premature beats, intraventricular conduction delay, Left anterior fascicular block and T-wave inversion in Leads I and aVL. Chest X-Ray showed Cardiomegaly and increased bronchovascular markings.[scirp.org]

Treatment

  • Its importance lies in the fact that early recognition can lead to treatment in the acute stage, which can prevent propagation of the disease, and further prophylactic treatment may reduce the incidence of further episodes.[ncbi.nlm.nih.gov]
  • Hereditary antithrombin (AT) deficiency treatment THROMBATE III is a human antithrombin indicated in patients with hereditary AT deficiency (hATd), an inherited clotting disorder, for 1 : Treatment and prevention of thromboembolism Prevention of perioperative[thrombate.com]
  • Treatment : How to Treat "congenital antithrombin iii deficiency"? Treatment of patients suffering from congenital antithrombin III deficiency depends would largely depend on the clinical setting.[signssymptoms.org]

Prognosis

  • Treatment and prognosis Some publications favor the introduction of long-term oral anticoagulation treatment after the first thrombotic event 4. Promoted articles (advertising)[radiopaedia.org]
  • Expectations (prognosis) Most patients have a good outcome if they stay on anticoagulant medications. Complications Blood clots can cause death, especially if they are in the lungs.[coordinatedhealth.com]
  • Outlook (Prognosis) Most patients have a good outcome if they stay on anticoagulant medications. Possible Complications Blood clots can cause death. Blood clots in the lungs are very dangerous.[indiatoday.intoday.in]
  • These include: High blood pressure Smoking Sedentary lifestyle High cholesterol Obesity Prognosis for people with Antithrombin III Deficiency In case the patients stay on anticoagulant medications, they are expected to have a good outcome. 3[inrtracker.com]

Etiology

  • Taken together, the etiology of both BCS and EHO was considered to be thrombosis, associated with congenital AT III deficiency. Two years after beginning warfarin therapy, the patient has no symptoms and his liver function remains normal.[ncbi.nlm.nih.gov]
  • (Etiology) Antithrombin III Deficiency is an inherited genetic condition; it is present at birth This deficiency disorder can also arise during the fetal stages due to a new mutation in a gene with no prior family history.[dovemed.com]
  • Although factor V Leiden does not commonly produce thrombosis during childhood, it may contribute to thrombosis started by other etiologies (eg, central venous catheters).[medigoo.com]
  • Página 330 - Intestinal infections in patients with the acquired immunodeficiency syndrome (AIDS): etiology and response to therapy. ‎[books.google.es]

Epidemiology

  • Hereditary and acquired antithrombin deficiency: epidemiology, pathogenesis and treatment options. Drugs. 2007. 67(10):1429-40. [Medline]. Lenz B, Samardzija M, Drenjancevic D, Zibar D, Samardzija M, Milostic-Srb A.[emedicine.medscape.com]
  • "Antithrombin III Deficiency: Practice Essentials, Pathophysiology, Epidemiology". Medscape. Hayıroğlu Mİ, Keskin M, Dönmez C, Günay MB, Ünal Dayı Ş (December 2016).[en.wikipedia.org]
  • Hereditary and acquired antithrombin deficiency: epidemiology, pathogenesis and treatment options. Drugs. 2007;67(10):1429-40. Review. Patnaik MM, Moll S. Inherited antithrombin deficiency: a review.[ghr.nlm.nih.gov]
  • J Thromb Thrombolysis 32: 82-88. [ crossref ] De Stefano V, Chiusolo P, Paciaroni K, Leone G (1998) Epidemiology of factor V Leiden: clinical implications.[researchopenworld.com]
Sex distribution
Age distribution

Pathophysiology

  • "Antithrombin III Deficiency: Practice Essentials, Pathophysiology, Epidemiology". Medscape. Hayıroğlu Mİ, Keskin M, Dönmez C, Günay MB, Ünal Dayı Ş (December 2016).[en.wikipedia.org]
  • Página 302 - Groszmann RJ, Atterbury CE: The pathophysiology of portal hypertension: a basis for classification. Semin Liver Dis 1982; 2:177. ‎[books.google.es]
  • Acquired deficiency of AT is generally attributed to four different pathophysiologies; accelerated consumption, reduced synthesis, increased excretion, and drugs.[jscimedcentral.com]
  • Pathophysiology A study by Yilmaz and Gunaydin indicated that in the absence of major acquired risk factors, patients under age 45 years with venous thromboembolism (VTE) commonly have inherited risk factors for the condition.[emedicine.medscape.com]
  • Diagnosing antithrombin deficiency, acquired or congenital, in conjunction with measurement of antithrombin activity An adjunct in the diagnosis and management of carbohydrate-deficient glycoprotein syndromes Clinical Information Discusses physiology, pathophysiology[mayomedicallaboratories.com]

Prevention

  • Its importance lies in the fact that early recognition can lead to treatment in the acute stage, which can prevent propagation of the disease, and further prophylactic treatment may reduce the incidence of further episodes.[ncbi.nlm.nih.gov]
  • […] of thromboembolism and for prevention of perioperative and peripartum thromboembolism.[thrombate.com]

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