Myelofibrosis (MF) A Guide for Patients Introduction Being diagnosed with myelofibrosis (MF) can be a shock, particularly when you may have never heard of it. If you have questions about MF – what causes it, who it affects, how it affects your body, what symptoms to expect and likely treatments – this booklet covers the basics for you. You will also find useful advice Haematologist at University about how to get the best from Hospital of Wales, Cardiff. We your haematologist, plus practical are also grateful to Chris Rogers, advice on how to help important patient reviewer, for his valuable people in your life understand contribution. The rewrite was put such a rare condition. For together by Lisa Lovelidge and more information talk to your peer reviewed by Professor Claire haematologist or clinical nurse Harrison. This booklet has since specialist. been updated by our Patient Information Writer Isabelle Leach This booklet originally written and peer reviewed by Dr Sebastian by Professor Claire Harrison, Francis. We also appreciate Consultant Haematologist Norman Childs and Amy Cross for at Guy’s and St Thomas’ their input as patient reviewers NHS Foundation Trust, and as well as Samantha Robertson subsequently revised by Dr whose husband had MF. Steve Knapper, Consultant If you would like any information on the sources used for this booklet, please email [email protected] for a list of references. Version 4 Printed: 10/2020 2 www.leukaemiacare.org.uk Review date: 10/2022 In this booklet Introduction 2 In this booklet 3 About Leukaemia Care 4 What is myelofibrosis? 6 What are the signs and symptoms of MF? 9 How is MF diagnosed? 10 What is the treatment for MF? 12 Living with MF 26 Talking about MF 28 Glossary 31 Useful contacts and further support 39 Helpline freephone 08088 010 444 3 About Leukaemia Care Leukaemia Care is a national charity dedicated to ensuring that people affected by blood cancer have access to the right information, advice and support. Our services has been affected by a blood cancer. A full list of titles – both Helpline disease specific and general Our helpline is available 8:30am information titles – can be – 5:00pm Monday - Friday and found on our website at www. 7:00pm – 10:00pm on Thursdays leukaemiacare.org.uk/support- and Fridays. If you need someone and-information/help-and- to talk to, call 08088 010 444. resources/information-booklets/ Alternatively, you can send Support Groups a message via WhatsApp on Our nationwide support groups 07500068065 on weekdays are a chance to meet and talk 9:00am – 5:00pm. to other people who are going Nurse service through a similar experience. For more information about a We have two trained nurses on support group local to your area, hand to answer your questions go to www.leukaemiacare.org. and offer advice and support, uk/support-and-information/ whether it be through emailing support-for-you/find-a-support- [email protected] or group/ over the phone on 08088 010 444. Buddy Support Patient Information Booklets We offer one-to-one phone We have a number of patient support with volunteers who have information booklets like had blood cancer themselves this available to anyone who or been affected by it in some 4 www.leukaemiacare.org.uk way. You can speak to someone Website who knows what you are going You can access up-to-date through. For more information information on our website, on how to get a buddy call www.leukaemiacare.org.uk. 08088 010 444 or email [email protected] Campaigning and Advocacy Online Forum Leukaemia Care is involved in campaigning for patient well- Our online forum, being, NHS funding and drug www.healthunlocked.com/ and treatment availability. If you leukaemia-care, is a place would like an update on any of for people to ask questions the work we are currently doing or anonymously or to join in the want to know how to get involved, discussion with other people in a email advocacy@leukaemiacare. similar situation. org.uk Patient and carer conferences Patient magazine Our nationwide conferences Our magazine includes provide an opportunity to inspirational patient and carer ask questions and listen to stories as well as informative patient speakers and medical articles by medical professionals: professionals who can provide www.leukaemiacare.org.uk/ valuable information and support. communication-preferences/ Helpline freephone 08088 010 444 5 What is myelofibrosis? Myelofibrosis (MF) is a 2. Secondary myelofibrosis: myeloproliferative neoplasm This occurs if you have been (MPN) characterised by excessive previously diagnosed with scar tissue. This forms in the bone another MPN such as ET or PV. marrow (soft, fatty tissue inside Primary MF or MF secondary to PV your bones) and prevents it from or ET are very similar in terms of producing normal blood cells. symptoms and treatment. MPNs are chronic disorders where the myeloid stem cells in the bone marrow make too many abnormal You can get copies of blood cells which do not function booklets on PV and ET properly. by downloading them In the case of MF, the abnormal from our website at www. clonal blood stem cells in the leukaemiacare.org.uk or bone marrow produce mature requesting a hard copy cells that reproduce quickly by emailing support@ and occupy the bone marrow, leukaemiacare.org.uk, causing the formation of scar or calling our helpline on tissue (fibrosis) and prolonged 08088 010 444. inflammation. Clonal describes a cell or organism descended from, There has been some debate and genetically identical, to a about whether or not MPNs are single common ancestor. types of cancer. This is because MF can occur on its own or the word ‘neoplasm’ (new growth) following one of the MPNs, is a term used both for cancers polycythaemia vera (PV) or (malignant neoplasms) and essential thrombocythaemia (ET). noncancerous tumours (benign Therefore, the two main types of neoplasms). Because in MF there MF are: is an uncontrolled increase in stem cells, most haematologists Primary myelofibrosis: 1. and cancer organisations do This type of MF occurs consider it and other MPNs spontaneously. 6 www.leukaemiacare.org.uk as blood cancers. Whatever it What causes MF? is called, the symptoms and prognosis for patients can vary While the exact cause of MF is widely. Your haematologist will not known, research has shown advise you depending on your that about 80% of patients with individual circumstances. MF have one of three main gene abnormalities, commonly referred Who is affected by MF? to as mutations. These are: MF is a rare disease with an • JAK2 (Janus Kinase 2)-V617F in average incidence rate of 0.1 to 1 about 50% of patients per 100,000 persons per year. • CALR (Calreticulin-R) in about MF can affect anyone. However, it 25% of patients is virtually unheard of in children and very rare in young adults. It • MPL (Myeloproliferative is most commonly diagnosed Leukaemia virus gene in patients between 60 and 70 MPL515L/K) in 5 to 10% of years of age, with a median age at patients diagnosis of 64 years. Additionally, some 10% of patients The incidence of MF is slightly do not have any of the gene higher in men than women, mutations above and are known with incidences per 100,000 as ‘triple-negative’ MF patients. persons of 0.59 compared with Patients who have triple-negative 0.3, respectively. There is no MF have a poor prognosis. significant difference between the In the majority of cases, MF is not incidences of MF in Europe, North inherited and therefore cannot America and Australasia. The be passed on to your children, incidences of MF by race is very with the exception of MF in similar, except for a noticeably descendants from Ashkenazi higher incidence in those of Jews. Ashkenazi Jewish descent, where a family history is involved. Some researchers believe MPNs may be triggered by past Helpline freephone 08088 010 444 7 What is myelofibrosis? (cont.) exposure to ionising radiation (a type of radiation that has very What are stem cells? high energy, like medical x-rays Stem cells are the most or nuclear fallout) or to some basic cells in the body chemical substances such as that have the ability benzene and toluene. to develop into any of the body’s specialised New genetic mutations that are cell types, from muscle associated with MF continue to cells to brain cells. be discovered and it is likely that, They are found in many in most patients, the disease is organs and tissues of caused by a combination of these the body and replenish mutations. any cells that have been lost or damaged. Factors that increase the risk Blood stem cells (called of getting MF other than the haematopoietic stem presence of the JAK2, CALR and cells) are found primarily MPL mutations, are: in bone marrow. There, • Age: MF can affect anyone; they have the potential to however, it is most often develop into mature blood diagnosed in people older than cells, such as red cells, 50 years old. white cells and platelets. • Another blood cell disorder such as ET or PV, in which MF can develop. • Exposure to industrial chemicals such as toluene and benzene or very high levels of radiation. 8 www.leukaemiacare.org.uk What are the signs and symptoms of MF? The essential features of MF changes may lead to some of the are an enlarged spleen, fibrosis symptoms of MF. (scarring) in the bone marrow, Symptoms of MF vary greatly anaemia (too few red blood cells), between patients. While most and symptoms such as fatigue, patients are diagnosed having fever, night sweats and bone pain.