PMC:4095636 / 877-4490 JSONTXT

{"project":"2_test","denotations":[{"id":"25024557-15086319-61067806","span":{"begin":302,"end":303},"obj":"15086319"},{"id":"25024557-16011580-61067807","span":{"begin":371,"end":372},"obj":"16011580"},{"id":"25024557-16433937-61067808","span":{"begin":371,"end":373},"obj":"16433937"},{"id":"25024557-15086319-61067809","span":{"begin":1426,"end":1427},"obj":"15086319"},{"id":"25024557-20409624-61067810","span":{"begin":2069,"end":2070},"obj":"20409624"},{"id":"25024557-16634245-61067811","span":{"begin":2487,"end":2488},"obj":"16634245"},{"id":"25024557-14962204-61067812","span":{"begin":2632,"end":2634},"obj":"14962204"},{"id":"25024557-19481722-61067813","span":{"begin":2632,"end":2636},"obj":"19481722"},{"id":"25024557-14962204-61067814","span":{"begin":2933,"end":2935},"obj":"14962204"},{"id":"25024557-9873810-61067815","span":{"begin":3320,"end":3322},"obj":"9873810"}],"text":"INTRODUCTION\nVon Willebrand disease (vWD) is a congenital bleeding disorder resulting from a quantitative or qualitative deficiency of von Willebrand factor (vWF), a plasma glycoprotein with essential platelet-dependent functions in primary hemostasis and a carrier for factor VIII in the circulation.[1] The worldwide prevalence of this disease ranges from 0.6 to 1.3%.[23] The gene for vWF is located on chromosome 12, and therefore, the disorder is inherited in an autosomal fashion. In most families, it appears to be inherited dominantly.[4] vWF is synthesized in two cell types. In the vascular endothelium, vWF is synthesized and subsequently stored in secretory granules (Weibel–Palade bodies) from which it can be released by stress or drugs such as desmopressin [1-desamino-8-d-arginine vasopressin (DDAVP)], a synthetic analogue of vasopressin. vWF is also synthesized in bone marrow megakaryocytes where it is stored in platelet alpha-granules from which it is released following platelet activation.[5] vWF circulates as a series of high-molecular-weight (HMW) multimers, the larger multimers being essential for normal platelet-dependent vWF function under the high shear stress conditions present in the microvasculature. vWD is considered to be the commonest of the inherited bleeding disorders, usually presenting as a mild to moderate disorder typically with easy bruising or bleeding from mucosal surfaces.[1]\nBased on the separation of vWF multimers or subunits of varying molecular weights by electrophoresis, the disorder can be subgrouped into four types. Type 1 accounts for approximately 85% of occurrences, with all the multimeric forms present in reduced concentrations; type 2 is characterized by an absence of HMW multimers and occurs in 10–15% of vWD patients; type 3 (autosomal recessive inheritance) is rarely seen in homozygous individuals, characterized by less than 1% Factor VIII (FVIII), prolonged bleeding time (\u003e15 min), and reduced level (\u003c1%) of vWF; and type 4 is also known as pseudo or platelet-type von Willebrand disorder.[6]\nIn most instances, the deficiency is relatively mild, although patients with severe deficiency may experience spontaneous gingival bleeding, epistaxis, and ecchymosis.[7] Presenting symptoms may include epistaxis, bleeding after dental extraction, bleeding from minor cuts or abrasions, postoperative bleeding, gingival bleeding, easy bruising, postpartum hemorrhage, joint bleeding, and gastrointestinal bleeding.[89] Among women with the diagnosis of vWD, 48% reported easy bruising, 44% epistaxis, 51% gingival bleeding, and 84% presented with menorrhagia.[1011] In one cross-sectional study, compared to controls, women with vWD were also more likely to report other gynecologic conditions, including ovarian cysts (52%), endometriosis (30%), leiomyomas (32%), endometrial hyperplasia (10%), polyps (8%), and hysterectomy (26%), in addition to menorrhagia.[10] The cause of gingival bleeding and enlargement in such women can also be attributed to the intake of oral contraceptives as the first line treatment for menorrhagia. Patients with this disease usually present with a normal platelet count, normal clotting time, normal serum fibrinogen, and normal prothrombin time, but the bleeding time is increased to an extremely variable degree.[12].\nFigure 1 Image showing gingival enlargement in a patient of von Willebrand's disease\nFigure 2 Image showing enlarged palatal gingivae but normal palatal mucosa\nFigure 3 Image showing grade-I clubbing of finger nails\nFigure 4 Orthopantamogram\nFigure 5 Two month post operative view\n\nC"}