Autoinflammatory diseases: a possible cause of thrombosis?

Regina, Micaela La; Orlandini, Francesco; Manna, Raffaele

doi:10.1186/s12959-015-0049-x

Cited by 14 publications

(8 citation statements)

References 51 publications

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“…Nevertheless, the existence of a hypercoagulable state has been demonstrated in FMF patients as a consequence of endothelial dysfunction caused by inflammation 64,65 . Autoinflammatory disorder, particularly FMF, may therefore act as a risk factor for thrombosis, 66 although the evidence to date is insufficient to establish a causal link.…”

Section: Discussionmentioning

confidence: 99%

Non‐amyloid liver involvement in familial Mediterranean fever: A systematic literature review

Fraisse

Savey

Hentgen

et al. 2020

Liver International

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Introduction: Familial Mediterranean fever (FMF), the most frequent autoinflammatory disease, is caused by mutations in the MEFV gene. It is characterized by recurrent febrile attacks of polyserositis. Liver abnormalities may develop during its course, but they remain poorly defined.Objective: To describe liver involvement in FMF patients. Methods:A systematic search was conducted through PubMed/Medline and Embase from 1946 to January 2020. All articles describing children and adults with FMF and liver involvement were included. Patients with amyloidosis were excluded. The selected full-text articles were independently reviewed by three investigators.Results: Forty-three articles were identified, of which 20 articles with a total of 99 patients were included: 74 adults, 23 children and two patients of unknown age. Ten patients had cryptogenic cirrhosis, 48 had nonalcoholic fatty liver disease (NAFLD), four had Budd-Chiari syndrome (BCS), 12 had isolated hyperbilirubinaemia and 25 had elevated liver enzymes. Conclusion:Despite a low prevalence of metabolic risk factors, FMF may be associated with NAFLD and cryptogenic cirrhosis as a consequence of chronic or recurrent inflammation. FMF patients should be regularly screened for liver injury. The latter may be prevented and treated by daily colchicine intake. The evidence was insufficient to establish an association with BCS, hyperbilirubinaemia or autoimmune hepatitis. K E Y W O R D Scolchicine, cytolysis, familial Mediterranean fever, inflammation, nonalcoholic fatty liver disease, nonalcoholic steatohepatitis

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Section: Discussionmentioning

confidence: 99%

Non‐amyloid liver involvement in familial Mediterranean fever: A systematic literature review

Fraisse

Savey

Hentgen

et al. 2020

Liver International

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“…Platelets store and secrete IL-1β, and IL-1 may potentiate granulopoiesis and thrombopoiesis (20,21). Hypercoagulability has been observed in FMF patients with major thrombotic events occurring with amyloidosis (22). Mice injected with IL-1 showed granulocyte/macrophage CSA, megakaryocyte CSA, and megakaryocyte potentiator (23).…”

Section: Discussionmentioning

confidence: 99%

The Effect of Canakinumab Treatment on the Inflammatory Markers in Children with Colchicine-Resistant Familial Mediterranean Fever

Yazılıtaş¹,

Özdel²,

Şimşek³

et al. 2019

Iran J Pediatr

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Objectives:This study aimed to determine the reliability of novel markers of treatment response in children with familial Mediterranean fever receiving canakinumab treatment, as compared to conventional inflammatory indexes Methods: Clinical and laboratory data for 19 colchicine-resistant Familial Mediterranean Fever patients treated with canakinumab were retrospectively reviewed. Patients with systemic diseases other than familial Mediterranean fever and familial Mediterranean fever related complications were excluded from the study. Results: Following canakinumab treatment there was a non-significant decrease in the neutrophil/ lymphocyte ratio (P = 0.523) and a significant decrease in the platelet/lymphocyte ratio (P = 0.003). There wasn no significant difference in mean platelet volume before and after canakinumab treatment (P = 0.762). Conclusions:The present findings indicate that the platelet/lymphocyte ratio could be considered a more reliable marker than the neutrophil/lymphocyte ratio of response to canakinumab therapy in patients with colchicine-resistant familial Mediterranean fever.

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“…Thrombotic complications are reported in approximately 40% of VEXAS patie with a predominance of venous (36.4%) rather than arterial (1.6%) thromboemboli ders [11]. High rates of thrombosis following autoinflammatory diseases or im dysregulation have been described in the literature [12]. In VEXAS patients, it is as The clinico-biological and generic description of the VEXAS syndrome has been refined thanks to numerous case reports, such as results of a French multicenter cohort describing 116 VEXAS patients in a retrospective study [3].…”

Section: Vexas Syndromementioning

confidence: 99%

“…Thrombotic complications are reported in approximately 40% of VEXAS patients [ 1 ], with a predominance of venous (36.4%) rather than arterial (1.6%) thromboembolic disorders [ 11 ]. High rates of thrombosis following autoinflammatory diseases or immune dysregulation have been described in the literature [ 12 ]. In VEXAS patients, it is assumed that the ubiquitylation defect leads to a deregulation of innate immunity and a systemic inflammation favoring the occurrence of thrombus [ 11 ].…”

Section: Vexas Syndromementioning

confidence: 99%

VEXAS Syndrome: A Novelty in MDS Landscape

Templé

Kosmider

2022

Diagnostics

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Fever, inflammation and vacuoles in hematopoietic cells represent the main features associated with VEXAS syndrome, a new prototype of autoinflammatory disorders genetically characterized by somatic mutation of the UBA1 gene which encodes the enzyme1-activating enzyme (E1) required for ubiquitin signaling. Described very recently, patients with VEXAS syndrome present a systemic autoinflammatory syndrome associated with hematological impairments, especially cytopenias whose pathophysiology is mainly non-elucidated. Initially diagnosed in elderly male patients, VEXAS syndrome was frequently associated with a diagnosis of myelodysplastic syndromes (MDS) leading the medical community to first consider VEXAS syndrome as a new subtype of MDS. However, since the first description of VEXAS patients in 2021, it appears from the multitude of case reports that MDS associated with VEXAS are different from the classically described MDS.

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Autoinflammatory diseases: a possible cause of thrombosis?

Cited by 14 publications

References 51 publications

Non‐amyloid liver involvement in familial Mediterranean fever: A systematic literature review

Non‐amyloid liver involvement in familial Mediterranean fever: A systematic literature review

The Effect of Canakinumab Treatment on the Inflammatory Markers in Children with Colchicine-Resistant Familial Mediterranean Fever

VEXAS Syndrome: A Novelty in MDS Landscape

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