Calreticulin mutations and their importance in Budd-Chiari syndrome

Jain, Abhinav; Tibdewal, Pratik; Shukla, Akash

doi:10.1016/j.jhep.2017.06.017

Cited by 10 publications

(3 citation statements)

References 9 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In a large French study of 209 patients with splanchnic vein thrombosis (SVT), CALR mutations were found in 1.9% and represented 5.4% of the patients with an underlying MPN . The reported incidence of CALR mutation in BCS ranges from 0% to 2.9% …”

Section: Aetiology and Pathogenesismentioning

confidence: 99%

Review article: a multidisciplinary approach to the diagnosis and management of Budd‐Chiari syndrome

Khan

Armstrong

Mehrzad

et al. 2019

Aliment Pharmacol Ther

View full text Add to dashboard Cite

Background: Budd-Chiari syndrome (BCS) is a rare but fatal disease caused by obstruction in the hepatic venous outflow tract. Aim: To provide an update of the pathophysiology, aetiology, diagnosis, management and follow-up of BCS. Methods: Analysis of recent literature by using Medline, PubMed and EMBASE databases. Results: Primary BCS is usually caused by thrombosis and is further classified into "classical BCS" type where obstruction occurs within the hepatic vein and "hepatic vena cava BCS" which involves thrombosis of the intra/suprahepatic portion of the inferior vena cava (IVC). BCS patients often have a combination of prothrombotic risk factors. Aetiology and presentation differ between Western and certain Asian countries. Myeloproliferative neoplasms are present in 35%-50% of European patients and are usually associated with the JAK2-V617F mutation. Clinical presentation is diverse and BCS should be excluded in any patient with acute or chronic liver disease. Non-invasive imaging (Doppler ultrasound, computed tomography, or magnetic resonance imaging) usually provides the diagnosis. Liver biopsy should be obtained if small vessel BCS is suspected. Stepwise management strategy includes anticoagulation, treatment of identified prothrombotic risk factors, percutaneous revascularisation and transjugular intrahepatic portosystemic stent shunt to re-establish hepatic venous drainage, and liver transplantation in unresponsive patients. This strategy provides a 5-year survival rate of nearly 90%. Long-term outcome is influenced by any underlying haematological condition and development of hepatocellular carcinoma. Conclusions: With the advent of newer treatment strategies and improved understanding of BCS, outcomes in this rare disease have improved over the last three decades. An underlying haematological disorder can be the major determinant of outcome. Primary BCS is considered a multifactorial disease and multicentre data found a combination of several prothrombotic conditions in 25% to 46% of the patients with BCS, 11,19-21 several times greater than expected in the general population. The discovery of one causal factor should not discourage further investigation to identify other prothrombotic conditions. Multifactorial causes may explain the rarity of BCS. 2 The prothrombotic conditions found in BCS, in particular the classical type, include: Factor V Leiden mutation, prothrombin (PT) gene mutation, protein C deficiency, protein S deficiency, antithrombin deficiency, antiphospholipid syndrome, hyperhomocysteinemia and paroxysmal nocturnal haemoglobinuria. 22 BCS is also associated with systemic inflammatory diseases, such as Behçet's disease, sarcoidosis, vasculitis and other connective tissue diseases. 22 A detailed description of the frequency of inherited/acquired thrombophilias and risk factors found in patients with BCS compared to those with portal vein thrombosis is summarised by Poisson and colleagues. 23

show abstract

Section: Aetiology and Pathogenesismentioning

confidence: 99%

Review article: a multidisciplinary approach to the diagnosis and management of Budd‐Chiari syndrome

Khan

Armstrong

Mehrzad

et al. 2019

Aliment Pharmacol Ther

View full text Add to dashboard Cite

show abstract

“…To date, multiple studies have reported the incidence of CALR mutations in patient cohorts presenting with SVT and are summarized in Table 1 . [ 10 , 11 , 12 , 13 , 14 , 15 , 16 , 17 , 18 , 19 , 20 , 21 , 22 , 23 ] Of more than 1500 SVT patients now analyzed, CALR mutations were present in only 1.3% of patients, roughly equating to one patient in seventy-five. Screening all SVT patients for CALR mutations would therefore appear to be an inappropriate use of resources; however, this issue has been recently addressed.…”

mentioning

confidence: 99%

“…Secondly, all the pathologically annotated, MPN-associated CALR indel mutations result in a +1 alteration of the reading frame leading to a loss of the terminal calreticulin localization domain. CALR mutations in two SVT patients have been reported as being in-frame[ 19 , 21 ]: caution in interpretation is required as these mutations may be of germ-line origin and of uncertain pathogenicity. [ 29 ] Sequencing of CALR in patient constitutional material is consequently needed for clarification.…”

mentioning

confidence: 99%