The first case of variant Creutzfeldt-Jakob disease (vCJD) in a patient that is genetically different from all previous confirmed cases has been reported in the UK. This suggests, as researchers have predicted, that the incubation of vCJD may take longer in certain groups of people. This 36-year old male patient was heterozygous at codon 129 (M/V) of the PRNP (prion protein) gene, while all previous confirmed cases of vCJD have been homozygous for methionine (M/M) at codon 129.
vCJD is a rare neurological illness and is part of a group of diseases called prion diseases, which affect humans and animals. Prion diseases are progressive, currently untreatable and ultimately fatal. Most vCJD cases are linked to consumption of cattle infected with bovine spongiform encephalopathy (BSE) but a few cases of transmission by blood transfusion have been reported. Cases of vCJD have been in decline since their peak around the year 2000. However, there has been concern that people who were exposed to the infectious agent that causes vCJD may develop symptoms at different rates due to their genotype at codon 129. A possible case of vCJD in another M/V patient was reported in 2009 but was not confirmed.
The European Medicines Agency (EMA) and the United States Food and Drug Administration (FDA) view the risk of transmission of vCJD by plasma-derived clotting factor concentrates (CFCs) today as extremely low. No person with haemophilia has ever been diagnosed with clinical vCJD. However, some patients with haemophilia are known to have used CFCs manufactured from plasma of vCJD-infected donors before 1998 and one such patient was found to have signs of vCJD in his spleen although he had no symptoms of the disease.
The EHC together with the WFH will continue to monitor the situation.
Further information about vCJD can be found on the EMA website and the FDA website.
Jim is aged 66 and has Haemophilia A with a high titer inhibitor which he developed at age 14.
Maria Elisa Mancuso (MD, PhD) is a Haematologist and works as a Senior Haematology Consultant at the Center for Thrombosis and Haemorrhagic Diseases of IRCCS Humanitas Research Hospital in Rozzano, Milan, Italy. She is Adjunct Clinical Professor at Humanitas University. She obtained a post-degree in Clinical and Experimental Haematology and a PhD in Clinical Methodology. She is involved in clinical research and has published several original articles in peer-reviewed journals a The Lancet, Blood, Journal of Thrombosis and Haemostasis, Haematologica, Thrombosis and Haemostasis, British Journal of Haematology and Haemophilia. She is reviewer for several peer-reviewed journals and member of the Editorial Board of JTH. She is a member of several scientific societies (ISTH, WFH, ASH, EAHAD, SISET, AICE) and was a medical member of the Inhibitor Working Group of the European Hemophilia Consortium. She is co-chair of the ADVANCE Study Group. She has acted also as co-chair of the Scientific and Standardization Subcommittee of ISTH on FVIII, FIX and rare bleeding disorders. She has been involved as principal and co-investigator in several clinical trials, and she takes care of both children and adults with hemophilia and other congenital bleeding disorders with a specific scientific interest in novel therapies, prophylaxis, inhibitors, and chronic hepatitis C.
As a patient with factor II deficiency, the diagnostic and treatment of rare bleeding disorders is a matter dear to my heart. My motivation to participate in the work of the ERIN committee is to improve both diagnostic and treatment for patients with rare bleeding disorders across Europe.
Economist and financial expert by profession, executive coach and trainer by passion and haemophilia advocate by every drop of my blood through my son (who has severe haemophilia A with inhibitors). Bringing a good decade of practical experience from the corporate insurance world, laser focus, growth mindset and resilience from my own experience, offering you anything I can just do, in hope that together we can make life more fulfilled for those impacted by bleeding disorders.
Amy Owen-Wyard is a Registered Mental Health Nurse. With experience working with children, young people, their families and adults with severe and enduring mental health conditions. Amy was also involved in a service improvement to provide a holistic care approach for those in general hospitals to support both their mental and physical health, whilst sharing her expertise and knowledge in mental health with the wider multidisciplinary team.
