Nighat Shahbaz, Muhammad Ayyub, Suhaib Ahmed, Muhammad Amin Wiqar.
Spectrum of Von Willebrand disease in northern Pakistan.
Pak J Pathol Jan ;19(1):29-32.

Introduction: Von Willebrand disease (VWD) is the commonest inherited bleeding disorder caused by quantitative or qualitative abnormality of von willebrand factor (VWF). Diagnosis requires making a clinical assessment and initial set of haemostatic screening tests to reach at final diagnosis. Disease has wide spectrum of clinical presentation and large variability in laboratory test results. There is no study on the clinicopathological parameters of VWD in Northern Pakistan. Objective: To evaluate the clinicopathological parameters of VWD in nortern Pakistan. Study design: Descriptive study. Setting: Department of Haematology, Armed Forces Institute of Pathology, Rawalpindi. Materials and methods: 64 cases of VWD diagnosed at AFIP on the basis of clinical and family history, clinical examination, prolonged bleeding time (BT), activated partial thromboplastin time (APTT), impaired ristocetin induced platelet aggression (RIPA) and VWF antigen estimation (VWF:Ag) by ELISA, were evaluated. Results: Most of the cases represented severe types of VWD. There is female preponderance with primary presentation in the form of mucocutaneous bleeding. 25 of our 64 patients were under 8 years of age. History of consanguineous marriage was present in 40.6% of parents. BT was prolonged in all patients. RIPA was impaired or absent in all cases with 60 patients having below normal VWF: Ag level while four cases had normal antigen concentration. Conclusion: (1) Most common forms of VWD seen in our set up are severe type 1 and type 3. (2) VWD is probably an under diagnosed entity in our part of the world. Strong clinical suspicion and judicious use of laboratory tests are required for the proper evaluation and correct diagnosis of the disease.

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