• Muhammad Kaleem Khan
  • Sunia Qasuria Khan
  • Naumaan Aslam Malik


Background: Von Willebrand’s disease (VWD) is a common inherited bleeding disorder caused by quantitative deficiency (Type-1 & Type-3 VWD) or qualitative defect of Von Willebrand’s Factor (Type-2 VWD). Regarding VWD limited studies are available in Pakistan. The current study was aimed to determine the clinical presentation and frequency of types of VWD. Methods: A cross sectional study was carried out from 16th December 2012 to 15th December 2013 on fifty one patients of VWD. Results: Patients were diagnosed on the basis of prolonged bleeding time, abnormal APTT, reduced level of VWF: Ag, FVIII, VWF: RCo and ratio of VWF: RCo/VWF Ag. Among them 26 (50.98%) were male and 25 (49.02%) were female. Type3 VWD (94.12%) was found to be the commonest type. Two (3.92%) cases of type-2 VWD and only one (1.96%) case of type-1 VWD were identified. Easy bruising was the most commonly observed clinical presentation, 21 (41.18%) patients, followed by epistaxis 7 (13.73%), gum bleed 4(7.84%) menorrhagia 5(9.80%), haemarthosis 2(3.92%), haematoma formation 5 (9.80%), bleeding after circumcision 2 (3.92%), bleeding after surgery 2 (3.92%) and umbilical cord bleeding 3 (5.88%). Consanguineous marriages were reported in parents of 42 (82.4%) patients. Family history of bleeding disorder was reported in 44 (86.27%) of cases. Conclusion: Type-3 VWD was found to be the commonest type which can be attributed to the fact that type-3 VWD is transmitted through autosomal recessive pattern of inheritance and consanguineous marriages are highly practiced in our society leading to high frequency of this form of VWD. Easy bruising and epistaxis were concluded to be the most common clinical presentation. Menorrhagia was found to be common in the females of child bearing age.Keywords: von Willebrand disease. Bleeding time. Ratio of VWF: RCo/VWF Ag


Shahbaz N, Ayyub M, Ahmed S and Wiqar MA. Spectrum of Von Willebrand disease in northern Pakistan. Pak J Pathol 2008;19(1):29–32.

Borhany M, Shamsi T, Naz A, Farzana T, Ansari S, Nadeem M, et al. Clinical features and types of von Willebrand disease in Karachi. Clin Appl Thromb Hemost 2011;17(6):E102–5

Kumar S, Kishore R, Gupta V, Jain M, Shukla J. Prevalence and spectrum of von Willebrand disease in Eastern Uttar Pradesh. Indian J Pathol Microbiol 2010;53(3):486–9

Lillicrap D and James P. World Federation of Hemophilia. Treatment of Hemophilia. Von Willebrand Disease: An Introduction for the Primary Care Physician. January 2009 Number 47.

Nichols WL, Hultin MB, James AH, Manco-Johnson MJ, Montgomery RR, Ortel TL, et al. von Willebrand Disease (vWD): evidence-based diagnosis and management guideline, the National Heart, Lung, and Blood Institute (NHLBI) Expert Panel report (USA). Haemophilia 2008;14:171–232.

Lillicrap D. World Federation of Hemophilia. Treatment of Hemophilia. The Basic Science, Diagnosis, and Clinical Management of von Willebrand Disease. April 2008 Number 35.

Kasper CK. Von Willebrand Disease. An introductory discussion for young physicians, October, 2005. Available at http://www.carolkasper.com/11_5_05/VWD.pdf. cited April 20,2011.

Kouides PA. Current Understanding of von Willebrand’s Disease in women – some answers, more questions. Haemophilia 2006;12(Suppl 3):143–51.

Pruthi RK. A Practical Approach to Genetic Testing for von Willebrand Disease. Mayo Clin Proc 2006;81(5):679–91.

Sadler JE. Von Willebrand disease type 1: a diagnosis in search of a disease. Blood 2003;101:2089–93.

Goodeve A, Eikenboom J, Castaman G, Rodeghiero F, Federici AB, Batlle J et al. Phenotype and genotype of a cohort of families historically diagnosed with type 1 von Willebrand disease in the European study, Molecular and Clinical Markers for the Diagnosis and Management of type 1 von Willebrand Disease (MCMDM-1VWD). Blood 2007;109:112–21.

Federici AB. Clinical diagnosis of von Willebrand disease. Haemophilia 2004;10(Suppl.4):169–76.

Adil SN, Qureshi MA. Von Willebrand disease–an under diagnosed entity. J Pak Med Assoc 2008;58(4):157–8.

Pasi KJ, Collins PW, Keeling DM, Brown A, Cumming AM, Dolan GC, et al. Management of von Willebrand disease: a guideline from the UK Haemophilia Centre Doctors’ Organization. Haemophilia 2004;10:218–31.

Federici AB. Current management of von Willebrand Disease. Asia - Pacific Oncology and Haematology 2008;81–85.

Hussain R and Bittles AH. The prevalence and demographic characteristics of consanguineous marriages in Pakistan. J Biosoc Sci 1998;30(2):261–75.

Zhang ZQ, Chan GSF, Lam CCK, So JCC, Cheuk JKL, Chiang AKS et al. The Clinical Features of Chinese Children with von Willebrand Disease: The Experience of a Tertiary Institute. HK J Paediatr (new series) 2011;16:95–100.

Woods AI, Meschengieser SS, Blanco AN, Salviu MJ, Farias CE, Kempfer AC et al. Clinical features and laboratory patterns in a cohort of consecutive Argentinian patients with von Willebrand’s disease. Haematologica, 2001;86(4):420–7.

Favaloro EF, Bonar R, Kershaw G, Siufi J, Hertzberg M, Street A, et al. Laboratory diagnosis of von Willebrand´s disorder: quality and diagnostic improvements driven by peer review in a multi laboratory test process. Haemophilia 2004;10:232–42.

Favaloro EJ, Thom J and Baker R. Assessment of current diagnostic practice and efficacy in testing for von Willebrand disorder: results from the second Australasian multi-laboratory survey. Blood Coagul Fibrinolysis 2000;11:729–37.

Trasi S, Shetty S, Ghosh K and Mohanty D. Prevalence & spectrum of von Willebrand disease from western India. Institute of Immunohaematology (ICMR), Mumbai, India. Indian J Med Res 2005;121:653–8.