Von Willebrand disease in Iran: diagnosis and management

Dorgalaleh, Akbar; Tabibian, Shadi; Shams, Mahmood; Ala, F.; Bahoush, Gholamreza; Jazebi, Mohammad; Manafi, Rima; Tavasoli, Behnaz; Baghaipour, Mohammad Reza

doi:10.21037/aob.2018.01.01

Cited by 8 publications

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“…However, patients with a high risk of severe bleeding can receive prophylaxis. 4 Inhibitor formation is a serious complication of replacement therapy in type 3 VWD. About 10% of the patients who develop inhibitor show severe anaphylactic reactions to any products containing VWF and they become non-responsive.…”

Section: Inhibitor Development In Patients With Type 3 Von Willebrand Disease a Comprehensive Study On 99 Iranian Patientsmentioning

confidence: 99%

Inhibitor development in patients with type 3 Von Willebrand disease, a comprehensive study on 99 Iranian patients

et al. 2021

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Section: Inhibitor Development In Patients With Type 3 Von Willebrand Disease a Comprehensive Study On 99 Iranian Patientsmentioning

confidence: 99%

Inhibitor development in patients with type 3 Von Willebrand disease, a comprehensive study on 99 Iranian patients

et al. 2021

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“…This disorder is more common in Iran than any other congenital bleeding disorder, except for hemophilia and von Willebrand disease (VWD). [5][6][7] The number of patients with congenital FXIII deficiency has increased in recent years, mostly due to improved diagnosis and increased number of patients identified in southeastern Iran (►Fig. 1).…”

Section: A Mini-review Of Prior Art In Relation To Factor XIII Deficimentioning

confidence: 99%

A Unique Factor XIII Mutation in Southeastern Iran with an Unexpectedly High Prevalence: Khash Factor XIII

Dorgalaleh

Tabibian

Shams

et al. 2019

Semin Thromb Hemost

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Congenital factor XIII (FXIII) deficiency is an extremely rare hemorrhagic disorder characterized by a deficiency of FXIII and associated with a high rate of morbidity and mortality. The disorder is more frequent in Iran, especially in Khash, a city in the southeast of the country. As identified in the current report, the prevalence of FXIII deficiency in this city is 1 homozygote per approximately 500 population (which is ∼4,000 times higher than the worldwide prevalence) with 3.5% heterozygotes. The disorder is accompanied by a high rate of mortality in rural areas of Khash, given an averaged observed rate of approximately three deaths per each family with FXIII deficiency, mostly due to late-diagnosis and/or misdiagnosis, and fetal consequences of both umbilical cord and central nervous system bleeding. Almost all patients with FXIII deficiency in the southeast Iran have a unique mutation in F13A gene (Trp187Arg), which leads to a severe FXIII deficiency. This mutation is used for pre-marriage and prenatal diagnosis, as well as for carrier detection and diagnostic confirmation. Fibrogammin P has been used worldwide for about one decade, along with different therapeutic regimens for prophylaxis treatment, major and minor surgeries, and successful delivery. Due to the rapid increase in the number of patients identified to have congenital FXIII deficiency, and the high rate of related morbidity and mortality, a comprehensive regional preventive program is necessary to prevent further expansion of this condition and decrease the burden on the health care system. The area of Khash city provides novel insights into severe FXIII deficiency due to its high prevalence in this region. This report also provides a review of FXIII deficiency, its diagnosis, prevalence, molecular basis, clinical manifestations, management, and treatment, with a particular focus on Iran, representing a hotspot for this disorder.

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“…In contrast, type 1 VWD is seemingly rare in developing countries, for reasons given previously. For example, in Iran, type 1 VWD has only been identified in 12.7% of described cases (8). Therefore, type 1 VWD could be described as a rare bleeding disorder in Iran, given a reported incidence of only ~2.4/million of the population.…”

Section: Relative Incidence Of Different Vwd Typesmentioning

confidence: 99%

Rare forms of von Willebrand disease

Favaloro¹

2018

Ann. Transl. Med.

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von Willebrand disease (VWD) arises from deficiency and/or defect(s) of plasma von Willebrand factor (VWF). In turn, plasma VWF is an adhesive protein which primarily functions by anchoring platelets to regions of vascular injury, thereby assisting prevention of bleeding. There is a proportional reduction also in Factor VIII, due to the absence of the stabilizing and anti-proteolytic effect that VWF normally exerts. VWD is reportedly the most common inherited bleeding disorder and can be classified into quantitative and qualitative defects, with type 1 and 3 VWD respectively identifying partial and total quantitative deficiency of VWF, and type 2 VWD identifying qualitative defects of VWF. The relative incidence of each subtype of VWD differs according to the locality and the ability of clinicians and laboratories to correctly diagnose and classify cases. In general, type 1 VWD is considered the most common type of VWD, whereas types 2 and 3 represent rarer forms. However, in developing countries, and partly because of consanguinity, type 3 VWD is over-represented. This review primarily focuses on the rarer forms of VWD, which typically comprise types 2 (A, B, M and N) and 3 VWD. The review also mentions type 1 VWD, largely for completeness and comparability, and since purportedly "severe" type 1 VWD, albeit not a formally recognized subtype of type 1 VWD, would represent a relatively "rare" form of VWD.

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Von Willebrand disease in Iran: diagnosis and management

Cited by 8 publications

References 0 publications

Inhibitor development in patients with type 3 Von Willebrand disease, a comprehensive study on 99 Iranian patients

Inhibitor development in patients with type 3 Von Willebrand disease, a comprehensive study on 99 Iranian patients

A Unique Factor XIII Mutation in Southeastern Iran with an Unexpectedly High Prevalence: Khash Factor XIII

Rare forms of von Willebrand disease

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