John's story - living with hereditary haemochromatosis.

Iron can accumulate in the body due to several causes, resulting in iron overload syndrome. The most common cause is hereditary haemochromatosis (HH), a genetic disorder triggered by inactivation of the iron hormone hepcidin, which results in hyperferraemia and excessive tissue iron deposition. Other causes include repeated blood transfusion, iron-loading anaemias and some chronic liver diseases. Left undiagnosed, HH can cause significant damage to the liver, heart, pancreas and joints, because excess iron is toxic. This also increases the risk of hepatocellular carcinoma, especially in those with cirrhosis of the liver, with an estimate of 1 in 10 HH patients affected. The risk of developing type 2 diabetes is increased by 2.5-7.1 times compared with non-diabetic patients. Haemochromatosis is usually considered when elevated serum ferritin and transferrin saturation levels are found. Ferritin in excess of 300 ng/mL usually indicates iron overload. Genetic testing can identify the two most common mutations in the HFE gene - a positive result confirms the diagnosis of haemochromatosis - but there are also rare forms of the disease unrelated to HFE mutations. Liver biopsy can be used to ascertain iron accumulation and histological presence of fibrosis (cirrhosis). Assessment of the hepatic iron index is considered the gold standard for diagnosis of haemochromatosis. Magnetic resonance imaging has been used as a non-invasive alternative to accurately estimate iron deposition levels in the liver, heart, joints and pituitary gland. Population screening is not recommended; however, family members of identified people should be screened to determine their phenotypic or carrier potential. Early diagnosis enables preventative measures to be commenced. Routine treatment is by regular venesection of 500 mL of whole blood per session. An initiation phase of weekly or twice-weekly venesection is common until serum ferritin (SF) is reduced to normal. When SF and other markers are within normal range, regular venesections are usually scheduled 1-3 months apart, depending on the underlying cause and SF response. Dietary iron including red meat and fortified foods such as cereals should be avoided. Vitamin C promotes iron absorption, and supplementation should be avoided, as should alcohol, which can increase the risk of concomitant liver disease. John's story outlines a typical journey through diagnosis, treatment and care during HH while living on Arran, an island off the coast of Scotland. Subsequently, John developed hepatocellular carcinoma, and his treatment and palliative care are described. We wrote this article to give the reader an insight to this silent disorder and the value of recognising the signs and symptoms for early diagnosis and subsequent treatment.

The answers are out there! Developing an inclusive approach to collaboration.

Professional isolation is a recurring issue in the delivery of rural and remote health care. However, collaboration is now more feasible with developments in technology and connectivity. At an international scale, collaboration offers clear opportunities for good ideas and great work to be shared across distances and boundaries that previously precluded this. This article reflects a presentation given to the Rethinking Remote conference in Inverness (Scotland) in May 2016. A number of factors with regard to infrastructure and engagement are considered, along with ways in which the opportunities of collaboration between individuals and large centres can be optimised. Social media and increased connectivity pave the way for easier access to great practice across international sites that share similar challenges.

Scotland's GP Rural Fellowship: an initiative that has impacted on rural recruitment and retention.

CONTEXT: In Scotland 20% of the population live in a remote or rural area spread across 94% of the land mass that is defined as remote and rural. NHS Education for Scotland (NES), NHS Scotland's training and education body, works in partnership with territorial health boards and medical schools to address rural recruitment and retention through a variety of initiatives. The longest established of these is the GP Rural Fellowship, which has been in place since 2002. This article describes this program and reports on a survey of the output of the Fellowship from 2002 to 2013. THE RURAL FELLOWSHIP PROGRAM: The Fellowship is aimed at newly qualified GPs, who are offered a further year of training in and exposure to rural medicine. The Fellowship has grown and undergone several modifications since its inception. The current model involves co-funding arrangements between NES and participating boards, supporting a maximum of 12 fellows per year. The Health Boards' investment in the Fellowship is returned through the service commitment that the Fellows provide, and the funding share from NES allows Fellows to have protected educational time to meet their educational needs in relation to rural medicine. Given this level of funding support it is important that the outcome of the Fellowship experience is understood, in particular its influence on recruitment to and retention in general practice in rural Scotland. To address this need a survey of all previous rural Fellows was undertaken in the first quarter of 2014, including all Fellows that had undertaken the Fellowship between 2002-03 and 2012-13. A total of 69 GPs were recruited to the Fellowship in this period, of which 66 were able to be included in the survey. There was a response rate of 98% to the survey and 63 of those that responded (97%) were working currently in general practice, 53 of whom were doing so in Scotland. A total of 46 graduates of the Fellowship in the period surveyed (71%) were working in rural areas or accessible small towns in Scotland, 39 in substantive general practice roles (60%). LESSONS LEARNED: Scotland's GP Rural Fellowship program represents a successful collaboration between education and service, and the results of the survey reported in this article underline previously unpublished data that suggest that approximately three-quarters of graduates are retained in important roles in rural Scotland. It is unclear however whether the Fellowship confirms a prior intention to work in rural practice, or whether it provides a new opportunity through protected exposure. This will form the basis of further evaluation.