warfarin and Blood-Coagulation-Disorders--Inherited

Topics: Blood Coagulation Disorders, Inherited; Factor V; Humans; Mutation; Phenotype; Warfarin

Ascending aorta and aortic arch thrombosis is rare in a young man with no risk factor. Here, we report the case of a young male patient with factor V Leiden mutation who developed ascending aorta and aortic arch thrombosis and subsequent emboli.

Topics: Adult; Anticoagulants; Aortic Diseases; Arterial Occlusive Diseases; Blood Coagulation; Blood Coagulation Disorders, Inherited; Echocardiography, Transesophageal; Embolism; Factor V; Humans; Lower Extremity; Male; Mutation; Thrombosis; Tomography, X-Ray Computed; Treatment Outcome; Vascular Surgical Procedures; Warfarin

Authors describe a case of systemic sclerosis with deep venous thrombosis. Great attention must be taken for this case because it represents the condition of hereditary thrombophilia. No similar case was reported in literature; therefore, further studies must go ahead understand the possible relation between the two pathologies.

Topics: Adult; Anticoagulants; Blood Coagulation Disorders, Inherited; Drug Therapy, Combination; Enoxaparin; Factor V; Female; Femoral Vein; Fibrinolytic Agents; Follow-Up Studies; Humans; Methylenetetrahydrofolate Reductase (NADPH2); Mutation; Popliteal Vein; Prothrombin; Saphenous Vein; Scleroderma, Systemic; Thrombophilia; Time Factors; Ultrasonography, Doppler, Color; Venous Thrombosis; Warfarin

A fifty-year-old woman with developmental dysplasia of the hip underwent total hip arhtroplasty, and subsequently developed recurrent venous thrombophilia of the lower extremities. Hematological examination revealed an inherited disorder of blood coagulation (homozygous mutation of the 5,10-methylenetetrahydrofolate reductase gene) and therefore longterm Warfarin anticoagulation therapy was started. A year later she was diagnosed with a large pelvic posthemorrhagic pseudocyst (hematoma) located below the musculus iliacus and adhering to bone in the region of posterior acetabulum. The condition was complicated by usuration and focal osteolysis of the adjacent pelvic bone. Histological examination of the hematoma showed characteristics of an unusual pseudoxanthoma mimicking Erdheim-Chester disease. The differential diagnosis of histological findings is discussed and recent relevant literature is reviewed.

Topics: Anticoagulants; Arthroplasty, Replacement, Hip; Blood Coagulation Disorders, Inherited; Bone Diseases; Diagnosis, Differential; Erdheim-Chester Disease; Female; Hematoma; Hip Dislocation, Congenital; Humans; Methylenetetrahydrofolate Reductase (NADPH2); Middle Aged; Pelvic Bones; Warfarin

The annual incidence of venous thromboembolism is approximately 117 per 100,000 persons or about 1 per 1000 person-years, with the majority of the disease occurring in the older age groups. Factor V Leiden gene (most common) and the prothrombin G20210A gene mutation are inherited mild to moderate risk factors for hypercoagulability. The anticoagulant warfarin requires close monitoring of the patient's prothrombin time, normalized as the international normalization ratio. Patients with either Cytochrome P-450 CYP2C9*2, CYP2C9*3, or VKORC1*2 genotype (c.-1639G>A) require significantly reduced doses, and are at a higher risk of serious bleeding. Thirty-five samples in total, 15 with Factor V Leiden, 18 with prothrombin G2021A mutation, and 2 with both were analyzed for 2C9*2, 2C9*3, and VKORC1 (-1639) allele variants by using the Invader CYP2C9 and VKORC1 polymorphism analysis kit. Eight with CYP2C9*2 C/T, 2 with CYP2C9*3 A/C, 5 with VKORC1 (-1639) A/A, and 22 with VKORC1 (-1639) G/A genotypes or 29 out of 35 (83%) samples analyzed were found with CYP2C9*2 C/T, CYP2C9*3 A/C, VKORC1 (-1639) G/A, or/and VKORC1 (-1639) A/A genotypes. CYP2C9*2 C/T, CYP2C9*3 A/C, VKORC1 (-1639) G/A genotyping might be necessary for patients with Factor V Leiden and/or prothrombin G2021A mutation before warfarin anticoagulant therapy.

Topics: Anticoagulants; Aryl Hydrocarbon Hydroxylases; Blood Coagulation Disorders, Inherited; Cytochrome P-450 CYP2C9; Factor V; Humans; Mixed Function Oxygenases; Mutation; Polymorphism, Genetic; Prothrombin; Vitamin K Epoxide Reductases; Warfarin