Elevated FVIII and FIX level in a Behçet's disease patient with intracardiac thrombosis and pulmonary arterial aneurysms

Atalay, Figen; Ernam, Dilek; Ökten, Fethiye; Akar, Nejat

doi:10.1016/j.thromres.2004.08.010

Cited by 10 publications

(4 citation statements)

References 15 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…This interaction has important physiological implications, since both high and low levels of FVIII in an individual have clinical consequences. High levels of FVIII causes thrombosis ( Kamphuisen et al, 2001 ; Atalay et al, 2005 ; Jenkins et al, 2012 ); persistent high levels of FVIII suggest the aberrant regulation of F8 expression. One possible mechanism for high levels of FVIII is that those miRNAs that normally target and downregulate the F8 gene are either expressed at low levels or not expressed at all.…”

Section: Discussionmentioning

confidence: 99%

Further Evidence That MicroRNAs Can Play a Role in Hemophilia A Disease Manifestation: F8 Gene Downregulation by miR-19b-3p and miR-186-5p

Jankowska

McGill

Pezeshkpoor³

et al. 2020

Front. Cell Dev. Biol.

View full text Add to dashboard Cite

Hemophilia A (HA) is a F8 gene mutational disorder resulting in deficiency or dysfunctional FVIII protein. However, surprisingly, in few cases, HA is manifested even without mutations in F8 . To understand this anomaly, we recently sequenced microRNAs (miRNAs) of two patients with mild and moderate HA with no F8 gene mutations and selected two highly expressing miRNAs, miR-374b-5p and miR-30c-5p, from the pool to explain the FVIII deficiency that could be mediated by miRNA-based F8 /FVIII suppression. In this report, an established orthogonal in vivo RNA-affinity purification approach was utilized to directly identify a group of F8 -interacting miRNAs and we tested them for F8 /FVIII suppression. From this pool, two miRNAs, miR-19b-3p and miR-186-5p, were found to be upregulated in a severe HA patient with a mutation in the F8 coding sequence and two HA patients without mutations in the F8 coding sequence were selected to demonstrate their role in F8 gene expression regulation in mammalian cells. Overall, these results provide further evidence for the hypothesis that by targeting the 3′UTR of F8 , miRNAs can modulate FVIII protein levels. This mechanism could either be the primary cause of HA in patients who lack F8 mutations or control the severity of the disease in patients with F8 mutations.

show abstract

Section: Discussionmentioning

confidence: 99%

Further Evidence That MicroRNAs Can Play a Role in Hemophilia A Disease Manifestation: F8 Gene Downregulation by miR-19b-3p and miR-186-5p

Jankowska

McGill

Pezeshkpoor³

et al. 2020

Front. Cell Dev. Biol.

View full text Add to dashboard Cite

show abstract

“…Since the cumulative analysis of pulmonary BD [11], more than 30 papers about BD-related pulmonary problems have been published [16,17,18,19,20,21,22,23,24,25,26,27,28,29,30,31,32,33,34,35,36,37,38,39,40,41,42,43,44,45,46]. Most of these cases were diagnosed as having PAA and only 1 patient had small-sized vasculitis [34].…”

Section: Discussionmentioning

confidence: 99%

Pulmonary Involvement in Behçet’s Disease

Uzun

Erkan

Akpolat³

et al. 2007

Respiration

View full text Add to dashboard Cite

Background: Behçet’s disease (BD) is a multisystem vasculitis and pulmonary involvement in BD is reported to indicate poor prognosis and high mortality. Objectives: The aims of this study were to report on patients with pulmonary involvement and to discuss pulmonary artery thrombus and small-sized vasculitis associated with BD, with respect to previously published cases. Methods: Fifteen patients with BD and pulmonary involvement were included in this study. Massive hemoptysis was observed in all patients having pulmonary artery aneurysm (PAA). Results: Eleven patients had macroscopic pulmonary vascular disease (2 PAA, 3 PAA and thrombi and 6 only thrombi) and 3 patients had microscopic pulmonary vascular disease. The remaining patient had pulmonary cryptococcosis. Conclusions: Data regarding treatment and outcomes of patients having BD-related pulmonary emboli/infarct and small-sized vasculitis are limited. Pulmonary vasculitis affects different levels of the pulmonary artery in BD and should be classified as macroscopic and microscopic vascular disease. ‘Pulmonary artery thrombosis’ should be used instead of ‘pulmonary emboli’. Spiral CT angiography is the best radiological tool for evaluation of pulmonary problems in BD. Treatment of vasculitis should be based on the type of vascular disease and may vary among different types of vascular disease. Anticoagulation can be used in patients with microscopic vascular disease and nonaneurysmal macroscopic vascular disease. More studies are needed to clarify this issue.

show abstract

“…Good prognosis has been reported contrary to several recurrences of thrombosis [68]. Intracardiac thrombus can lead to superior vena cava syndrome [90, 92, 93] and pulmonary embolism [83, 94–96]. …”

Section: Cardiac Manifestationsmentioning

confidence: 99%

Behcet's Disease: New Concepts in Cardiovascular Involvements and Future Direction for Treatment

Owlia

Mehrpoor

2012

ISRN Pharmacology

View full text Add to dashboard Cite

Behcet’s disease (BD) is the only systemic vasculitis involving both arteries and vein in any sizes. It frequently encounters in rheumatology clinics. It has some major morbidities and even fatal outcomes in some cases. The aim of this paper is to analyze the main concepts on pathophysiology and treatment options in BD, focusing on cardiovascular aspects, thrombosis, and potential future treatment.

show abstract

Elevated FVIII and FIX level in a Behçet's disease patient with intracardiac thrombosis and pulmonary arterial aneurysms

Cited by 10 publications

References 15 publications

Further Evidence That MicroRNAs Can Play a Role in Hemophilia A Disease Manifestation: F8 Gene Downregulation by miR-19b-3p and miR-186-5p

Further Evidence That MicroRNAs Can Play a Role in Hemophilia A Disease Manifestation: F8 Gene Downregulation by miR-19b-3p and miR-186-5p

Pulmonary Involvement in Behçet’s Disease

Behcet's Disease: New Concepts in Cardiovascular Involvements and Future Direction for Treatment

Contact Info

Product

Resources

About