Splanchnic vein thrombosis is frequently observed in Western PNH patients. I and my colleagues recently have done a study regarding the prevalence of PNH in Chinese patients Budd Chiari syndrome and portal vein thrombosis. Among 127 patients with primary Budd Chiari syndrome and 100 non-malignant and non-cirrhotic patients with portal vein thrombosis, only one patient was diagnosed with PNH. And PNH was diagnosed in this patient before Budd Chiari sydnrome. Yesterday, I had an oppurtunity to consult with a Chinese expert hemotologist. He said that he just saw two patients with PNH and concomitant venous thrombosis during his life. Generally, I thought routine screening for PNH in all Chinese patients with Budd Chiari syndrome and portal vein thrombosis might be unnecessary.
Dear Xingshun, I read the abstract of your paper and I agree with your conclusions. Generally speaking, I think that thrombophilic screenings perform best in idiopathic thrombosis and that these are not mandatory in clearly provoked or secondary thromboses. Regarding idiopathic splanchnic vein thromboses, in our country (Italy) I prefer to recommend a limited screening that should include JAK2 V617F, factor V Leiden and prothrombin 20210A mutations. However in western countries Budd Chiari syndrome is rarer than in Asia.
I agree with Dr Marco Cei. Screening for JAK2 mutation (specially) is mandatory as it has been linked with mesenteric(splacnic) thrombosis, regardless the patient has Policytemia Vera, Esential Policythemia or Myelofibrosis. May be they can develop later.
Dear Colleague, I am very glad to receive your answers to my question.
In a meta-analysis (Qi X, et al. APT 2011), we found the prevalence of JAK2V617F mutation is high in Budd Chiari syndrome and portal vein thrombosis. And the presence of JAK2V617F mutation is significantly associated with the development of MPN during the follow-up in BCS and PVT. In this meta-analysis, most of included studies are from Western countries.
Subsequently, I and my colleagues performed a prospective study (Qi X, et al. JGH 2012) regarding the prevalence of JAK2V617F mutation in Chinese patients with BCS and PVT. Results demonstrated a low prevalence of JAK2V617F mutation in Chinese patients with BCS, and a high prevalence in PVT.
These results potentially suggested that routine screening for JAK2V617F muation in PVT is very necessary. But I am not unceratin about this screening test in Chinese BCS. This difference might be explained by the different mechanisms of BCS between west and China.
I agree with Marco's discussion on BCS and JAK 2 mutation with or without Factor V Leiden or Prothrombin gene mutation. The CPC in NEJM dated May 18,2006 ( Case 15, 2006) by R. Chung et al shows the mysterious development of BCS in a 46 year old lady with no other obvious Thrombophilic clinical states, like PRV, ET of MF and still proving positive for JAK2 V617F mutation and heterozygosity for Factor V Leiden mutation. I don't know whether on longer follow up this lady developed some form of MPNs or not.
Dear Kasim Salim, I read your comment.
We did a meta-analysis to compare the development of MPN in BCS patients with and without JAK2V617F mutation during the follow-up. Results demonstrated that odds ratio for JAK2V761F mutation is 10.77 (95%CI 1.75-66.35) (Qi X, et al. Aliment Pharmacol Ther. 2011 May;33(10):1087-103.). So I think that the possiblity of developing from a latent MPN to an overt MPN is very high in this female patient.
On the other hand, I would like to emphasize that the prevalence of JAK2V617F mutation and MPN in Chinese BCS patients is low.
Yes, it is really important. Now, a total of 3 meta-analyses were published in this topics of JAK2V617F mutation in BCS or PVT. 2 Blood and 1 APT
Some patients with Budd-Chiari syndrome may suffer from PNH. But I agree that routine screening for PNH is not necessary. If other causes of BCS are excluded, I recommend to test the patient for C59 and CD55.