Familial Behçet’s disease

Abstract

Behçet's disease (BD) is a multisystemic vasculitis syndrome characterized by a course of remissions and exacerbations of unpredictable frequency and duration. The disease has a worldwide distribution, but the majority of cases cluster along the ancient Silk Road, which extends from eastern Asia to the Mediterranean basin. The etiopathogenesis of BD is still unknown, but familial aggregation and peculiar geographical distribution have been regarded as evidence supporting genetic influence on the pathogenesis of BD. In this article, we describe a patient with BD, who had four members of his family associated with BD.

Etiopathogenesis of Recurrent Aphthous Stomatitis and the Role of Immunologic Aspects: Literature Review

“…The role of genetic factors in the etiopathogenesis of recurrent aphthae was confirmed in further studies of relatives and twins with RAS, where the positive family history of the disease was reported in 24–46 % of cases (Rogers 1997; Scully and Porter 2008). The disease in parents significantly influences the risk of RAS and the course of the condition in their children—patients with a positive family history of RAS suffer more frequent recurrences and more severe course of the disease comparing to those with a negative RAS family history (Almoznino et al 2013; Lehner 1978; Yilmaz and Cimen 2010). Moreover, in both, RAS and Behçet's syndrome, the risk of the disease development was higher in monozygotic twins than in dizygotic ones (Kobayashi et al 2005; Yilmaz and Cimen 2010).…”

“…The disease in parents significantly influences the risk of RAS and the course of the condition in their children—patients with a positive family history of RAS suffer more frequent recurrences and more severe course of the disease comparing to those with a negative RAS family history (Almoznino et al 2013; Lehner 1978; Yilmaz and Cimen 2010). Moreover, in both, RAS and Behçet's syndrome, the risk of the disease development was higher in monozygotic twins than in dizygotic ones (Kobayashi et al 2005; Yilmaz and Cimen 2010). The genetic risk factors that modify the individual susceptibility to RAS include various DNA polymorphisms distributed in the human genome, especially those related with the alterations in the metabolism of interleukins (IL-1β, IL-2, IL-4, IL-5, IL-6, IL-10, IL-12), interferon (IFN)-γ and tumor necrosis factor (TNF)-α (Akman et al 2006, 2008; Bazrafshani et al 2002, 2003; Buño et al 1998; Guimarães et al 2006, 2007; Hall et al 2000; Kalkan et al 2013; Pekiner et al 2012).…”

Genetics of Behçet's Disease

“…For example, eNOS gene polymorphism was reported to be associated with BD susceptibility in Italian and Korean, but not in Turkish and Japanese patients. Therefore their role in BD pathogenesis is not clear, and further investigations are needed for definitive conclusions [3, 47–52]. …”

Familial Behçet's Disease of Adult Age: A Report of 4 Cases from a Behçet Family

“…A previous report suggested the existence of a Mendelian entity in the pediatric BD subgroup (11). However, a familial aggregation of BD patients has long been noted (5,6). Familial aggregation of the disease has been reported mainly from Turkey (12) and Japan (5).…”

“…Although, the majority of patients with BD are sporadic cases with no family history (4), a familial aggregation of BD patients has long been noted (5,6). Many trials were focused to demonstrate the genetic susceptibility.…”