Subarachnoid haemorrhage in first and second degree relatives of patients with subarachnoid haemorrhage

Bromberg, Jacoline E C; Rinkel, Gabriël J.E.; Algra, Ale; Greebe, Paut; Duyn, Cornelia M. van; Hasan, D.; Limburg, M.; Berg, H. W. M. Ter; Wijdicks, Eelco F. M.; Gijn, J. van

doi:10.1136/bmj.311.7000.288

Cited by 173 publications

(97 citation statements)

References 7 publications

(9 reference statements)

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“…In total, the risk is three to seven times higher in first-degree relatives of patients with SAH than in the general population (Bromberg et al 1995;Schievink et al 1995;Wang et al 1995;De Braekeleer et al 1996;Ronkainen et al 1997). In second-degree relatives, the incidence of SAH is similar to that found in the general population (Bromberg et al 1995). It has also been shown that the prevalence of unruptured IA is significantly higher (10.5-13.5%) in a Japanese subgroup with a family history of IA Kojima et al 1998).…”

Section: Pathology Epidemiology and Etiologymentioning

confidence: 93%

“…Further epidemiological studies demonstrate a strong genetic influence: Siblings have a sixfold increased risk of being struck by the same disease. In total, the risk is three to seven times higher in first-degree relatives of patients with SAH than in the general population (Bromberg et al 1995;Schievink et al 1995;Wang et al 1995;De Braekeleer et al 1996;Ronkainen et al 1997). In second-degree relatives, the incidence of SAH is similar to that found in the general population (Bromberg et al 1995).…”

Section: Pathology Epidemiology and Etiologymentioning

confidence: 95%

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The genetics of intracranial aneurysms

Krischek

Inoue

2006

J Hum Genet

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The rupture of an intracranial aneurysm (IA) leads to a subarachnoid hemorrhage, a sudden onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension and excessive alcohol intake are associated with subarachnoid hemorrhage. IAs, ruptured or unruptured, can be treated either surgically via a craniotomy (through an opening in the skull) or endovascularly by placing coils through a catheter in the femoral artery. Even though the etiology of IA formation is mostly unknown, several studies support a certain role of genetic factors. In reports so far, genome-wide linkage studies suggest several susceptibility loci that may contain one or more predisposing genes. Studies of several candidate genes report association with IAs. To date, no single gene has been identified as responsible for IA formation or rupture. The identification of susceptible genes may lead to the understanding of the mechanism of formation and rupture and possibly lead to the development of a pharmacological therapy.

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Section: Pathology Epidemiology and Etiologymentioning

confidence: 93%

Section: Pathology Epidemiology and Etiologymentioning

confidence: 95%

The genetics of intracranial aneurysms

Krischek

Inoue

2006

J Hum Genet

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“…In the general population IAs occur in approximately 3% of people [7] , and their frequency increases risk factor for IAs formation [18,19,31] . In patients with ADPKD affected with aneurysm 40% have a positive family history compared with 10% in the general population [32] . The risk of aneurysm formation increases with the number of first degree relatives with aneurysms or those who have had SAH [13,32] .…”

Section: Intracranial Aneurysmsmentioning

confidence: 99%

“…In patients with ADPKD affected with aneurysm 40% have a positive family history compared with 10% in the general population [32] . The risk of aneurysm formation increases with the number of first degree relatives with aneurysms or those who have had SAH [13,32] . Although arterial hypertension affects up to 75% of patients with ADPKD and normal renal function [33] , IAs development in ADPKD is unrelated to arterial hypertension, what differentiates them from the general population [5,18] .…”

Section: Intracranial Aneurysmsmentioning

confidence: 99%

“…Morbidity and mortality due to SAH is also greater in ADPKD [35] with a mortality rate of 46% [36] . In the population of patients with ADPKD most common location of ruptured aneurysms is anterior circulation [19] , especially the anterior communicating artery [32] . The highest risk of subarachnoid hemorrhage in the general population is related to positive family history, although the most important population factors are smoking, and hypertension [11,37] .…”

Section: Intracranial Aneurysmsmentioning

confidence: 99%

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Intracranial Manifestations of Autosomal Dominant Polycystic Kidney Disease

Kulesza

Gradzik

Niemczyk

2016

International Journal of Neurology Research

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Autosomal dominant polycystic kidney disease (ADPKD) belongs to the most common genetic disorders, and affects approximately 1 in 1,000 people in the general population. ADPKD is a systemic disease, with multiple extrarenal manifestations, like arterial hypertension, aneurysms, and cysts in solid organs, including liver, pancreas, and spleen. Among intracranial manifestations of ADPKD, the most important are intracranial aneurysms. ADPKD is a well-known risk factor for them. Additionally, arachnoid cysts may be found in some ADPKD patients. Rarely, pineal cysts and choroid plexus cysts are observed in this population. The aim of our paper is to present intracranial manifestations that may be observed in ADPKD.

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