Type 3 von Willebrand Disease

05/01/2014 - "Unlike human beings and primates with type 3 VWD, the affected cat did not have a concomitant deficiency of coagulation factor VIII or consistent prolongation of activated partial thromboplastin time. "
01/01/2009 - "We report our experience with 12 families with clearly recessive inheritance, but definitely measurable factor VIII and VWF, which is not typical for severe type 3 VWD."
03/01/2006 - "We report a 55-year-old patient with type 3 von Willebrand disease who underwent multiple tooth extractions with successful hemostatic management using recombinant factor VIII. The patient was previously misdiagnosed and treated incorrectly then at 53 years old, he was diagnosed with type 3 von Willebrand disease. "
01/01/2001 - "In most clinical situations, desmopressin is effective treatment for the great majority of patients with mild (type 1) disease, while replacement therapy with factor VIII/vWF concentrates that contain high levels of vWF activity is required for most type 2 and nearly all type 3 vWD patients. "
06/01/2007 - "Although the efficacy of recombinant factor VIII (rFVIII) in the treatment of type 3 von Willebrand disease (VWD) has been reported, the mechanisms by which FVIII concentrates devoid of von Willebrand factor (VWF) induce improvements in hemostasis are poorly understood. "

05/01/2008 - "Expression studies of missense mutations p.D141Y, p.C275S located in the propeptide of von Willebrand factor in patients with type 3 von Willebrand disease."
05/01/2004 - "Survey part B/distribution 2 (family VWD study): Plasma from a father, mother and son with borderline normal/reduced von Willebrand factor (VWF), and a daughter with type 3 VWD. "
01/01/2015 - "Type 3 Von Willebrand disease is an autosomal recessive disease caused by the virtual absence of the von Willebrand factor (VWF). "
04/01/2013 - "Severe type 3 VWD (VWD3) is characterised by complete absence or presence of trace amounts of non-functional von Willebrand factor (VWF). "
09/01/2012 - "Type 3 von Willebrand disease (VWD3) is characterized by unmeasurable von Willebrand factor (VWF) levels in plasma and platelets and severe but variable hemorrhagic symptoms. "

07/01/2011 - "DDAVP clearly has no effect in type 3 VWD but may have variable clinical effect in individuals with other subtypes or may be contraindicated in some cases. "
01/01/2005 - "The best way to select the appropriate treatment is to perform a test infusion with desmopressin in any patient with clinically significant VWD, provided that he/she has no contraindication to the compound or belongs to subtype with an anticipated lack of response (for example, type 3 VWD with FVIII/VWF lower than 5%)."
06/01/2003 - "These FVIII/VWF concentrates are currently used in type 3 VWD and in type 1 or 2 VWD patients who are unresponsive to desmopressin (DDAVP). "
11/01/2002 - "Ten males and 12 females, median age 28.5 years, range 5-70 years) had type 3 vWD (six cases), DDAVP-unresponsive type 1 (nine cases) and type 2B (seven cases). "
09/01/2001 - "The remaining 10 patients did not respond to DDAVP and were defined as the 'unable group' (seven severe HA, three type 3 vWD). "

02/01/2000 - "Mapping and functional studies of two alloantibodies developed in patients with type 3 von Willebrand disease."
10/01/2012 - "Management of delivery with FVIII/VWF concentrates in a pregnant woman with type 3 von Willebrand disease and alloantibodies."
10/01/2008 - "Clinical and molecular markers of inherited von Willebrand disease type 3: are deletions of the VWF gene associated with alloantibodies to VWF?"
05/01/2008 - "Treatment for patients with type 3 von Willebrand disease and alloantibodies: a case report."
06/01/2001 - "Although rare, von Willebrand disease type 3 is of major interest because of its severe clinical presentation, the need for replacement therapy and the risk of occurrence of alloantibodies after the infusion of plasma concentrates. "

11/01/2005 - "Recessive severe type 1 vWD is caused by homozygosity or double heterozygosity for a missense mutation and differs from type 3 vWD by the detectable presence vWF:antigen (Ag) and FVIII:C levels between 0.09 and 0.40 U/mL. Carriers of one null allele or missense mutations are usually asymptomatic at vWF levels of 50% of normal. "
07/01/2006 - "Recessive type 1 VWD differs from type 3 VWD by the presence of detectable von Willebrand factor: antigen VWF:Ag and FVIII:C levels between 0.09 and 0.40 U/mL. Patients with recessive type 1 VWD show an abnormal VWF multimeric pattern in plasma and/or platelets consistent with severe type 2 VWD. "
03/01/2002 - "Coagulation studies demonstrated undetectable levels of ristocetin-induced platelet aggregation (RIPA), von Willebrand factor antigen (VWF:Ag) and VWF ristocetin cofactor activity (VWF:RCo), associated with significantly prolonged bleeding time; unlike type 3 von Willebrand disease (VWD), platelet VWF was reduced but not undetectable. "
11/01/2011 - "It is not clear how the diagnosis of OC type 3 vWD will be made based on FVIII:C (Factor VIII activity), vWF:Ag (von Willebrand factor antigen), vWF:RCo (von Willebrand factor ristocetin cofactor activity), and PFA (platelet function analyzer )-100 parameters. "
06/01/2002 - "She was diagnosed as having atypical type 3 von Willebrand disease because of prolonged bleeding time with normal platelet count and prolonged activated partial thromboplastin time (aPTT), and an almost complete absence of von Willebrand factor (vWF) antigen, ristocetin cofactor activity (vWF:RCo) and ristocetin-induced platelet agglutination (RIPA). "

09/01/2012 - "Molecular characterization, recombinant protein expression, and mRNA analysis of type 3 von Willebrand disease: Studies of an Italian cohort of 10 patients."
09/01/2015 - "Because the c.1534-3C>A mutation impairs, but does not abolish normal mRNA processing, it may never cause type 3 VWD. "
07/30/2009 - "Subsequent analysis of VWF mRNA led to the discovery of a deletion (c.221-977_532 + 7059del [p.Asp75_Gly178del]) of VWF in 7 of 12 white type 3 VWD patients from 6 unrelated families. "
12/01/2006 - "Since the 1534-3C > A mutation does not abolish the normal processing of mRNA, it is unlikely to be found in type 3 VWD. "

03/01/2002 - "Coagulation studies demonstrated undetectable levels of ristocetin-induced platelet aggregation (RIPA), von Willebrand factor antigen (VWF:Ag) and VWF ristocetin cofactor activity (VWF:RCo), associated with significantly prolonged bleeding time; unlike type 3 von Willebrand disease (VWD), platelet VWF was reduced but not undetectable. "
06/01/2002 - "She was diagnosed as having atypical type 3 von Willebrand disease because of prolonged bleeding time with normal platelet count and prolonged activated partial thromboplastin time (aPTT), and an almost complete absence of von Willebrand factor (vWF) antigen, ristocetin cofactor activity (vWF:RCo) and ristocetin-induced platelet agglutination (RIPA). "
11/01/2005 - "Recessive type 3 von Willebrand disease (vWD) is a severe hemophilia-like bleeding disorder caused by homozygosity or double heterozygosity for two nonsense mutations (null alleles) and characterized by a strongly prolonged bleeding time (BT), absence of ristocetin-induced platelet aggregation (RIPA), absence of von Willebrand factor (vWF) protein, and prolonged activated partial thromboplastin time (APTT) due to factor VIII (FVIIIC): deficiency. "
11/01/2013 - "We describe two cases of pregnant women with von Willebrand disease type 3, and its successful surveillance and treatment with Haemate P FVIII (human plasma-derived von Willebrand Factor-ristocetin co-factor associated with human coagulation factor VIII), during pregnancy, partum and puerperium. "

07/01/2014 - "Carrier detection was performed in eight recessive type 3 VWD (VWD3) families using VNTRs VWF1 and VWF2, RsaI (789Thr/Ala) linkage markers, multimer analysis and DNA sequencing. "
07/30/2009 - "Direct sequencing of VWF genomic DNA in 21 patients with type 3 von Willebrand disease (VWD) failed to reveal a causative homozygous or compound heterozygous VWF genotype in 5 cases. "
09/01/2009 - "In genetic studies in type 3 VWD, if VWF mutations are not detected at the DNA level, RNA analysis should be performed to search for intronic mutations, heterozygous deletions or aberrant splicing/post-transcriptional events. "

03/01/2013 - "In approximately 50% of families in this study the inheritance pattern for type 3 VWD is co-dominant and not recessive."
09/01/2013 - "The genetics of Canadian type 3 von Willebrand disease: further evidence for co-dominant inheritance of mutant alleles: a rebuttal."
03/01/2013 - "The genetics of Canadian type 3 von Willebrand disease: further evidence for co-dominant inheritance of mutant alleles."
11/01/2013 - "We describe two cases of pregnant women with von Willebrand disease type 3, and its successful surveillance and treatment with Haemate P FVIII (human plasma-derived von Willebrand Factor-ristocetin co-factor associated with human coagulation factor VIII), during pregnancy, partum and puerperium. "

01/01/2008 - "The study assessed the data regarding numbers of patients treated with HA, HB or type 3 VWD, disease severity, regime of coagulation factor replacement (CFR) and the frequency of factor VIII and IX inhibitors. "
07/01/2011 - "Coagulation factor concentrates are used in nonresponsive individuals, in case of a contraindication for DDAVP, or in type 2B and type 3 VWD. "
07/01/2010 - "The rare inherited coagulation factor deficiencies (deficiencies of factors I, II, V, VII, XI, XIII, combined FV + FVII deficiency, combined deficiency of the vitamin K dependent factors and von Willebrand disease type 3) have an aggregate prevalence of approximately 1:100,000. "

02/01/2008 - "Life-threatening late postpartum bleeding of a patient with von Willebrand disease type 3 unresponsive to traditional medical approaches was successfully managed with selective uterine artery embolization. "

03/01/2006 - "We report a 55-year-old patient with type 3 von Willebrand disease who underwent multiple tooth extractions with successful hemostatic management using recombinant factor VIII. The patient was previously misdiagnosed and treated incorrectly then at 53 years old, he was diagnosed with type 3 von Willebrand disease. "

04/01/2002 - "One patient who has severe von Willebrand disease (Type 3) had grade II splenic injury that required splenectomy to secure hemostasis. "

11/01/2010 - "We would suggest that better preventive dental care needs to be provided to these patients to avoid the considerable morbidity and very high burden of dental disease in type 3 VWD."

11/01/2003 - "An infant with excessive hemorrhage at circumcision was found to have Type 3 VWD. "