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Successful aortic aneurysm repair in a woman with severe von Willebrand (type 3) disease.

Campbell V, Marriott K, Stanbridge R, Shlebak A - Case Rep Hematol (2015)

Bottom Line: It is inherited as autosomal recessive trait; whilst heterozygote carriers have mild, or no symptoms, patients with VWD3 show severe bleeding symptoms.In the laboratory, this is characterised by undetectable VWF:Ag, VWF:RCo, and reduced levels of factor VIII < 0.02 IU/dL.The bleeding is managed with von Willebrand/FVIII factor concentrate replacement therapy.

View Article: PubMed Central - PubMed

Affiliation: Department of Haematology, Imperial College Healthcare NHS Trust, London W2 1NY, UK.

ABSTRACT
von Willebrand disease type 3 (VWD3) is a rare but the most severe form of von Willebrand disease; it is due to almost complete lack of von Willebrand factor activity (VWF:RCo). It is inherited as autosomal recessive trait; whilst heterozygote carriers have mild, or no symptoms, patients with VWD3 show severe bleeding symptoms. In the laboratory, this is characterised by undetectable VWF:Ag, VWF:RCo, and reduced levels of factor VIII < 0.02 IU/dL. The bleeding is managed with von Willebrand/FVIII factor concentrate replacement therapy. In this rare but challenging case we report on the successful excision and repair of an ascending aortic aneurysm following adequate VWF/FVIII factor concentrate replacement using Haemate-P.

No MeSH data available.


Related in: MedlinePlus

Contrast CT image showing large ascending aortic aneurysm measuring 6.3 × 5.4 cm.
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fig1: Contrast CT image showing large ascending aortic aneurysm measuring 6.3 × 5.4 cm.

Mentions: She had a life-long severe bleeding phenotype with extensive ecchymosis, epistaxis, and gum bleeding necessitating hospitalisation on countless occasions from infancy. Since menarche, at 12 years of age, she has had menorrhagia leading to severe iron deficiency anaemia requiring iron supplementation, repeated red cell transfusions, and on-demand VWF:FVIII factor concentrate including Wilfactin (high-purity plasma derived von Willebrand factor concentrate). Aged 14 a minor road traffic accident resulted in catastrophic internal bleeding requiring transfusion of 27 units of red cells. At the age of 18 years following rupture of an ovarian cyst she had a massive haemorrhage requiring 48 units of red cells; a second ovarian cyst rupture resulted in recorded haemoglobin of 2.0 g/dL. She had received plasma products ranging from fresh frozen plasma (FFP) and cryoprecipitate to VWF:VIII factor concentrate when available, contracting hepatitis C as a result of treatment. There is a strong family history, two siblings with severe bleeding phenotypes: one dying aged 8 years from prolonged epistaxis and the other requiring a 30-unit red cell following circumcision. Three other siblings have no bleeding symptoms. Parents are asymptomatic but consanguineous. Baseline laboratory investigations (Table 4) including full blood count showed a haemoglobin of 9.6 g/dL and a microcytic hypochromic picture with a normal platelet count at 346 × 109/L and normal WBC at 4.5 × 109/L. Her coagulation screen showed a normal prothrombin time (PT) of 10.5 sec (9.4–11.3), prolonged activated partial thromboplastin time (APTT), 51.0 sec (25.0–30.7), and a normal thrombin time (TT), 14.3 sec (12.9–15.2). The 50 : 50 mix showed an APTT of 28 sec (23.0–29.0). FVIII was 0.09 IU/dL (0.45–1.50) and VWF:Ag 0.03 IU/dL (0.40–2.40) with undetectable ristocetin cofactor (VWF:RCo) and undetectable collagen binding confirming type 3 von Willebrand disease. She had no inhibitor. The ferritin was depleted at 3 μg/L (20–300). Her blood group was A Rh D positive. Hepatitis B surface Ag was negative with a positive anti-HBc and anti-HBs of 10.11 miu/mL. Hepatitis C antibody was positive, type 1b genotype. An ascending aortic aneurysm was confirmed on CT scan measuring 6.3 × 5.4 cm (Figure 1).


Successful aortic aneurysm repair in a woman with severe von Willebrand (type 3) disease.

Campbell V, Marriott K, Stanbridge R, Shlebak A - Case Rep Hematol (2015)

Contrast CT image showing large ascending aortic aneurysm measuring 6.3 × 5.4 cm.
© Copyright Policy - open-access
Related In: Results  -  Collection

Show All Figures
getmorefigures.php?uid=PMC4417585&req=5

fig1: Contrast CT image showing large ascending aortic aneurysm measuring 6.3 × 5.4 cm.
Mentions: She had a life-long severe bleeding phenotype with extensive ecchymosis, epistaxis, and gum bleeding necessitating hospitalisation on countless occasions from infancy. Since menarche, at 12 years of age, she has had menorrhagia leading to severe iron deficiency anaemia requiring iron supplementation, repeated red cell transfusions, and on-demand VWF:FVIII factor concentrate including Wilfactin (high-purity plasma derived von Willebrand factor concentrate). Aged 14 a minor road traffic accident resulted in catastrophic internal bleeding requiring transfusion of 27 units of red cells. At the age of 18 years following rupture of an ovarian cyst she had a massive haemorrhage requiring 48 units of red cells; a second ovarian cyst rupture resulted in recorded haemoglobin of 2.0 g/dL. She had received plasma products ranging from fresh frozen plasma (FFP) and cryoprecipitate to VWF:VIII factor concentrate when available, contracting hepatitis C as a result of treatment. There is a strong family history, two siblings with severe bleeding phenotypes: one dying aged 8 years from prolonged epistaxis and the other requiring a 30-unit red cell following circumcision. Three other siblings have no bleeding symptoms. Parents are asymptomatic but consanguineous. Baseline laboratory investigations (Table 4) including full blood count showed a haemoglobin of 9.6 g/dL and a microcytic hypochromic picture with a normal platelet count at 346 × 109/L and normal WBC at 4.5 × 109/L. Her coagulation screen showed a normal prothrombin time (PT) of 10.5 sec (9.4–11.3), prolonged activated partial thromboplastin time (APTT), 51.0 sec (25.0–30.7), and a normal thrombin time (TT), 14.3 sec (12.9–15.2). The 50 : 50 mix showed an APTT of 28 sec (23.0–29.0). FVIII was 0.09 IU/dL (0.45–1.50) and VWF:Ag 0.03 IU/dL (0.40–2.40) with undetectable ristocetin cofactor (VWF:RCo) and undetectable collagen binding confirming type 3 von Willebrand disease. She had no inhibitor. The ferritin was depleted at 3 μg/L (20–300). Her blood group was A Rh D positive. Hepatitis B surface Ag was negative with a positive anti-HBc and anti-HBs of 10.11 miu/mL. Hepatitis C antibody was positive, type 1b genotype. An ascending aortic aneurysm was confirmed on CT scan measuring 6.3 × 5.4 cm (Figure 1).

Bottom Line: It is inherited as autosomal recessive trait; whilst heterozygote carriers have mild, or no symptoms, patients with VWD3 show severe bleeding symptoms.In the laboratory, this is characterised by undetectable VWF:Ag, VWF:RCo, and reduced levels of factor VIII < 0.02 IU/dL.The bleeding is managed with von Willebrand/FVIII factor concentrate replacement therapy.

View Article: PubMed Central - PubMed

Affiliation: Department of Haematology, Imperial College Healthcare NHS Trust, London W2 1NY, UK.

ABSTRACT
von Willebrand disease type 3 (VWD3) is a rare but the most severe form of von Willebrand disease; it is due to almost complete lack of von Willebrand factor activity (VWF:RCo). It is inherited as autosomal recessive trait; whilst heterozygote carriers have mild, or no symptoms, patients with VWD3 show severe bleeding symptoms. In the laboratory, this is characterised by undetectable VWF:Ag, VWF:RCo, and reduced levels of factor VIII < 0.02 IU/dL. The bleeding is managed with von Willebrand/FVIII factor concentrate replacement therapy. In this rare but challenging case we report on the successful excision and repair of an ascending aortic aneurysm following adequate VWF/FVIII factor concentrate replacement using Haemate-P.

No MeSH data available.


Related in: MedlinePlus