Rare bleeding disorders: spectrum of disease and clinical manifestations in the Pakistani population

Abstract

Background Rare inherited coagulation factor deficiencies constitute an important group of bleeding disorders. A higher frequency of these disorders is seen in areas of high consanguinity. Our aim was to study the prevalence and spectrum of rare inherited bleeding disorders, characterize the severity of the deficiencies, identify different clinical manifestations, and evaluate different treatments provided. Methods This cross-sectional study was conducted in the Department of Haematology, Armed Forces Institute of Pathology Rawalpindi, between January 2014 and December 2018. A detailed history was taken, and an examination was performed. The signs and symptoms were noted, and the patients were diagnosed on the basis of a coagulation profile. The disease severity was assessed using factor assays. Results Among 2,516 patients with suspected coagulation disorders, 774 (30.8%) had an inherited bleeding disorder. Of the 774 patients, 165 (21.3%) had a rare bleeding disorder; 91 (55.2%) of them were males, and 74 (44.9%) were females, with a male-to-female ratio of 1.2:1. The median patient age was 9 years 3 months. The most common disorder was factor VII deficiency (46 patients, 27.9%). The most common clinical presentation was bruising in 102 (61.8%) and gum bleeding in 91 (55.2%) patients. Conclusion The most common rare bleeding disorder in our population is factor VII deficiency. The prevalence of these bleeding disorders is high in our population due to a high number of consanguineous marriages.

Owren's Disease: A Rare Deficiency

“…Bleeding disorders present with a spectrum of signs and symptoms may be found incidentally for the workup of systemic bleeding episodes such as hematemesis, melena, hemoptysis, easy bruising, ecchymosis, or menorrhagia [ 4 ]. This case presented with abnormal heavy menstrual bleeds, and she was referred to the gynecology department for abnormalities of the gynecological tract.…”

The prevalence of rare bleeding disorders among children in the Russian Federation

“…При этом далее следует дефицит X фактора и только четвертое место занимает дефицит XI фактора, также получена достаточно высокая распространенность дефицита XIII фактора. Такие данные по распространенности более характерны для Индии и Ирана, чем для европейской популяции (рисунок 4) [5,6,14].…”

“…По данным Всемирной организации гемофилии, наиболее распространенным является дефицит VII фактора, затем следует дефицит XI и V факторов [1]. При этом в странах Азии наблюдается совершенно другая распространенность с преобладанием пациентов с дефицитом XIII и X факторов [5,6]. Некоторые выводы о числе пациентов с различными РК в Российской Федерации (РФ) и тяжести у них геморрагических проявлений можно сделать по работам, проведенным на базах ФГБУ «НМИЦ ДГОИ им.…”

Treatment of patients with rare bleeding disorders in the Netherlands: Real‐life data from the RBiN study

“…Patients with RBDs exhibit a wide variety of symptoms, ranging from asymptomatic or only minor bleeding to severe and life‐threatening bleeding 6 . In general, characteristic bleeding symptoms for all RBDs are mucosal tract bleeding episodes, such as epistaxis and menorrhagia, and excessive bleeding during and after invasive procedures and delivery 4,7–11 .…”

“…1,3,4 Patients with RBDs exhibit a wide variety of symptoms, ranging from asymptomatic or only minor bleeding to severe and lifethreatening bleeding. 6 In general, characteristic bleeding symptoms for all RBDs are mucosal tract bleeding episodes, such as epistaxis and menorrhagia, and excessive bleeding during and after invasive procedures and delivery. 4,[7][8][9][10][11] For a significant number of patients with a (mild) RBD, bleeding complications during invasive procedures are the first presentation after which hemostatic analysis often follows with assessment of the specific RBD.…”