RESUMEN
Hereditary hemochromatosis (HH) is an inherited iron overload. The most common form of HH is type 1 hereditary hemochromatosis (HFE-related), which is associated with mutation of the HFE gene located on chromosome 6 and inherited in an autosomal recessive pattern. Type 2 hereditary hemochromatosis or juvenile hemochromatosis is less frequent autosomal recessive disease that results from mutations in the HJV gene on chromosome 1 (type2a) or the HAMP gene on chromosome19 (type2b). Mutation of type 2 transferrin receptor gene and mutation of the ferroportin gene result in hemochromatosis type 3 and hemochromatosis type 4, respectively. Juvenile hemochromatosis is characterized by an early onset of excess accumulation of iron in various organs. It could affect the liver, heart, pancreas and joints, resulting in arthropathy. Most juvenile hemochromatosis cases exhibit severe symptoms due to early onset. Cardiac and hypogonadism are the dominating features of the disease. Prevalence of arthropathy in juvenile hemochromatosis is higher than classic HH. Early diagnosis and intervention of juvenile hemochromatosis may prevent irreversible organ damage. The diagnosis can be made based on laboratory testing (of increased transferrin saturation, serum iron and ferritin levels), liver biopsy, imaging or genotype. According to international guidelines, treatment of HH is indicated when serum ferritin concentrations are above the upper limit of normal. We report two sisters who presented to the rheumatology clinic with arthralgia, which was subsequently found to have a homozygous mutation variant of unknown significance in the HFE2 gene: c.497A>G;p.(His166Arg) and has been treated with deferasirox (Exjade®). Musculoskeletal symptoms completely resolved in both patients in two months and remained so for one year on treatment.
RESUMEN
Tumour board contributes to providing better patient care by using a multidisciplinary team approach. In the efforts of evaluating the performance of the gastrointestinal tumour board at our institution, it was difficult to assess past performance due to lack of proper use of standardised documentation tool. This project aimed at improving adherence to the documentation tool and its recommendations in order to obtain performance measures for the tumour board. A multidisciplinary team and a plan were developed to improve documentation. Four rapid improvement cycles, Plan-Do-Study-Act (PDSA) cycles, were conducted. The first cycle focused on updating the case discussion summary form (CDSF) based on experts' input and previous identified deficiencies to enhance documentation and improve performance. The second PDSA cycle aimed at incorporating the CDSF into the electronic medical records system and assessing its functionality. The third cycle was to orient and train staff on using the form and launching it. The fourth PDSA cycle aimed at assessing the ability to obtain tumour board performance measures. Adherence to completion of the CDSF improved from 82% (baseline) to 94% after the fourth PDSA cycle. Over 104 consecutive cases discussed in the tumour board between January and July 2016 and 76 cases discussed in 2015, results were as follows: adherence to National Comprehensive Cancer Network guidelines in 2016 was observed in 141 (95%) recommendations, while it was observed in 90 (92%) recommendations in 2015. Changes in the management plans were observed in 37 (36%) cases in 2016 and in 6 (8%) cases in 2015. Regarding tumour board recommendations, 87% were done within 3 months of tumour board discussion in 2016, while 69% were done in 2015. Implementing electronic standardised documentation tool improved communication among the team and enabled getting accurate data about performance measures of the tumour board with positive impact on healthcare process and outcomes.
RESUMEN
PURPOSE: As the burden of cancer on the population and the health care system continues to increase with more complicated treatment options, the need for multidisciplinary teams to be as efficient as possible becomes more vital. Our study aimed to evaluate the consistency of GI Tumor Board (GI TB) recommendations with international guidelines, the adherence of physicians involved in patient care to TB recommendations, and the impact on the management of patients. METHODS: A prospective cohort study was conducted from January to June 2016 at our institution, which is a major tertiary hospital that provides comprehensive cancer care. All cases presented at the GI TB during this period were included. Data regarding adherence to National Comprehensive Cancer Network guidelines, adherence to TB recommendations, and changes made to the management of patients were collected weekly from the GI TB in a data collection form. RESULTS: Of the 104 patients included, 57 (55%) were males and the median age was 58 (16 to 85) years. Colorectal cancer was the most common diagnosis, in 65 patients (63%). Nearly one-half of cases (45%) were stage IV cancers. Starting new treatment was recommended for 72 patients (69%). Further investigations were requested for 15 patients (14%). For imaging, 24 recommendations (23%) were made. Adherence to National Comprehensive Cancer Network guidelines was observed in 97% of total recommendations. New findings were found in pathology (11%), radiology (13%), and staging (4%). Management plans were changed in 37 cases (36%). Over a 3-month period after presentation to the GI TB, most of the recommendations (87%) were performed. CONCLUSION: A multidisciplinary tumor board enhances the adherence to guidelines and has an impact on patient management in approximately one-third of patients. Among physicians, adherence to recommendations of the TB was high.