Why are rare diseases underdiagnosed? A clinical management study on detection of primary biliary cholangitis in primary care.

Background: There are about 7,000 rare diseases that affect 10% of the world population. Primary biliary cholangitis, an autoimmune chronic liver disease of the interlobular bile ducts, is one of the most common causes of chronic cholestasis. However, it is a rare, often underdiagnosed and undertreated, disease which can lead to cirrhosis and liver failure. We aimed to assess the proportion of undetected primary biliary cholangitis patients in primary care through a clinical management process. Methods: We made two extractions of the clinical data concerning liver diseases, risk factors and laboratory tests from the databases of a sample of general practitioners, with a check and correction of mistakes. The clinical data of the patients without liver disease and major risk factors, and with serum Alkaline Phosphatase above the laboratory reference values, were re-evaluated by each general practitioner with an expert gastroenterologist. The patients with elevated Alkaline Phosphatase values and without evidence of intrahepatic or extrahepatic causes of cholestasis were considered suspected for primary biliary cholangitis and assessed for antimitochondrial antibodies test and specialist' s evaluation, according to present guidelines. Results: A total of 20,480 adults attending 14 general practitioners in the province of Brescia, Northern Italy, were included in the study. Nine patients had a prior primary biliary cholangitis diagnosis, with a prevalence of 43.9/100000. After excluding 2094 (10.2%) patient with liver diseases or other causes of cholestasis, 121 subjects with Alkaline Phosphatase above the reference values were re-evaluated by the general practitioners and gastroenterologist, and 27 patients without symptoms or signs of cholestasis were considered suspected for primary biliary cholangitis: 9 of them were tested for antimitochondrial antibodies, and three new primary biliary cholangitis cases were detected (+33%). Discussion and Conclusions: This study shows that there is a not negligible burden of undetected cases of adult rare diseases that can be diagnosed in primary care, through a disease management procedure, without modifying the routine clinical practice.

Expert opinion and patients' in-depth interviews on the impact of pulmonary complications in systemic sclerosis.

OBJECTIVE: To qualitatively explore the perceptions and opinions of experts dealing with systemic sclerosis (SSc) and patients with SSc on the impact of the disease and pulmonary complications on economic status, psycho-social wellbeing and the diagnostic and therapeutic journey, and to identify which strategies/interventions may be useful to address patients' and their family's needs. METHODS: An expert meeting was conducted using the NGT to discuss the consequences of pulmonary complications on the Italian SSc community. The direct experience of five patients with SSc and pulmonary complications was described through in-depth interviews conducted by psychologists. RESULTS: The experts' meeting and patients' in-depth interviews underline the complexity of SSc and the consequences of pulmonary involvement on patients' and caregivers' health-related quality of life, working ability, psychological wellbeing and social interactions. Panellists suggest that improved communication between physicians, associations and institutions could help protect the working status of patients with SSc. Granting patients disability benefits, providing access to part-time jobs and productivity-focused training could also help decrease the economic burden of the disease. A multidisciplinary approach is recommended to reduce treatment burden, together with the implementation of standard diagnostic and therapeutic paths and increased use of telemedicine via platforms that ensure secure health data sharing. Both patients and caregivers may benefit from psychological support. CONCLUSION: SSc and pulmonary fibrosis have profound consequences on patients' and caregivers' health-related quality of life, working ability, psychological wellbeing and social interactions. Some activities may help patients and families deal with these aspects of the disease.

Tele-Assisted Palliative Homecare for Advanced Chronic Obstructive Pulmonary Disease: A Feasibility Study.

BACKGROUND: Despite real needs, very few chronic obstructive pulmonary disease (COPD) patients with life-limiting disease receive a well-organized support for palliative care (PC). OBJECTIVE: To test the feasibility of, and patient satisfaction with, an advanced care plan for severe COPD patients followed by tele-assistance at home for six months that focused on monitoring patient's palliative topics through a dedicated checklist. METHODS: Ten hospitalized patients with severe COPD (<1-year life expectancy) received a 60 minutes PC talk by a specialist to define an advanced care plan in the case of very severe respiratory insufficiency, based on three options: (1) endotracheal intubation (EI); (2) noninvasive ventilation; or (3) no mechanical aid; O2 and drugs, for example, opiates. After the talk, patients expressed their personal choice. Following discharge home, patients received structured monthly telephone monitoring from specialized tutor nurses for six months on palliative topics. Patient's anxiety before and after talk, depression, quality of life, specialist's quality of communication, and customer satisfaction were evaluated. RESULTS: The palliative talk was feasible and anxiety low during the talk. Nine out 10 patients were followed up by nurse till the end of the program. Overall bad days of life, negative emotions, and perception of disease deterioration were the palliative topics more frequently declared by patient during the phone calls. Two patients changed their preference from EI to O2 therapy/sedation as a consequence of the intervention. Five out of 10 patients died. All patients expressed a high level of satisfaction of the service. DISCUSSION: Tele-assisted PC is feasible and well accepted. According to these observations, a suitable supportive program can be the goal of a future study.

[A novel standard protocol of long-term follow-up shared with general practitioners after percutaneous coronary intervention: appropriateness and economic impact]. / Il follow-up del paziente sottoposto a rivascolarizzazione coronarica percutanea: impatto potenziale dell'applicazione di un percorso clinico-gestionale strutturato sull'integrazione ospedale-territorio e modulato sul rischio clinico del paziente.

BACKGROUND: Follow-up modalities for patients undergoing percutaneous coronary intervention (PCI) are not well defined and standard protocols have been not established. The purpose of this study was to assess: a) the frequency and patterns of cardiology visits, echocardiographic examinations and stress tests after PCI in clinical practice; b) the impact of a multidisciplinary protocol of long-term follow-up after PCI shared with general practitioners on the appropriateness and reduction in healthcare costs. METHODS: A total of 780 patients who underwent PCI in 2010 in two Italian hospitals were analyzed. The number of cardiological examinations (total, routine and clinically driven) performed during 2 years of follow-up were recorded and stratified according to the patient's risk profile. The latter was defined according to the multidisciplinary protocol. In addition, a simulation of the spread between provided and necessary tests (according to the multidisciplinary protocol) was carried out. RESULTS: The mean number of cardiological examinations per patient provided during follow-up was 5, of which 4.4 were routine tests in asymptomatic patients. Routine tests were performed more frequently in patients at low risk compared to those at higher risk. By applying the multidisciplinary protocol to the case mix and by merging clinical visit and stress test or echocardiographic examination, a reduction of 0.87 tests per patient/year would be expected. This reduction would result in a 39% decrease in follow-up examinations in this specific clinical setting. CONCLUSIONS: This observational study demonstrates that unnecessary cardiological clinical and functional tests are often performed in long-term follow-up of patients submitted to PCI. The application of a standard protocol of follow-up shared with general practitioners may help avoiding unnecessary consultations, thus reducing healthcare costs.

A multidisciplinary consensus document on follow-up strategies for patients treated with percutaneous coronary intervention.

The number of percutaneous coronary interventions (PCI) is increasing worldwide. Follow-up strategies after PCI are extremely heterogeneous and can greatly affect the cost of medical care. Of note, clinical evaluations and non-invasive exams are often performed to low risk patients. In the present consensus document, practical advises are provided with respect to a tailored follow-up strategy on the basis of patients' risk profile. Three strategies follow-up have been defined and types and timing of clinical and instrumental evaluations are reported. Clinical and interventional cardiologists, cardiac rehabilitators, and general practitioners, who are in charge to manage post-PCI patients, equally contributed to the creation of the present document.

Structured management strategy versus usual care for gastroesophageal reflux disease: rationale for pooled analysis of five European cluster-randomized trials.

BACKGROUND: Gastroesophageal reflux disease (GERD) has a major impact at the primary care level and there is a need to evaluate whether the diagnosis and therapeutic management of GERD in Europe needs to be improved. METHODS: This project was designed to test the hypothesis that a new primary care management strategy would improve outcomes for patients with GERD, compared with usual care, in Europe. The analysis pools five separate cluster-randomized studies conducted in Austria, Italy, Norway, Spain and Sweden. These studies used a strategy based on the self-administered GerdQ questionnaire to stratify adult patients with symptoms of heartburn or regurgitation according to the frequency and impact of symptoms. A score of ≥8 indicates a high probability of suffering GERD. Patients with a GerdQ impact score ≤2 were treated with generic proton-pump inhibitors according to local guidance, and patients with an impact score ≥3 were treated with esomeprazole 40 mg once daily. RESULTS: In total, 2400 patients were enrolled across the five studies. The protocols were modified by individual countries according to their local guidelines/requirements. In Norway, the new management strategy was compared with traditional routine endoscopy and 24-hour pH-metry, and encompassed proton-pump inhibitor reimbursement restrictions. Outcome measures differed by country, but included control of GERD symptoms, self-rated health status and work productivity, treatment changes, specialist referrals and physician adherence. GERD-related use of healthcare resources was also evaluated. CONCLUSION: The pooled analysis will determine whether a locally adapted primary care management strategy for GERD, using GerdQ as a patient-tailored diagnostic and therapeutic evaluation tool, is beneficial compared with usual care across five countries with different standard approaches to GERD management and control.

Immediate and 8-month impact of a medical educational course for general practitioners on knowledge about schizophrenia and its treatment: results of a 3-phase study from Brescia, Italy.

OBJECTIVE: To test the efficacy of a training course on the diagnosis and treatment of schizophrenia, tailored for the general practitioner. METHOD: A course, in a 3-session format, was given to 215 primary care doctors from the city of Brescia and its province, in Italy. All 706 doctors working in primary care were asked to participate. Of these doctors, 30.5% took part in the study. The first session (215 doctors) assessed baseline knowledge of schizophrenia (June 2002), the second (173 doctors) gave formal teaching and assessed post-lesson knowledge (October 2002), and the third (130 doctors) evaluated the retention of knowledge after 8 months (July 2003). The main outcome measures were total number of schizophrenia symptoms identified, total number of antipsychotics identified, and knowledge about antipsychotic-related adverse events. RESULTS: Post-lesson, general practitioners could identify 6.5 more symptoms (p < .001) and 4.9 more antipsychotics (p < .001). Compared to baseline, 71.5% vs. 15.4% of doctors had a good knowledge of antipsychotic-related adverse events. Although a loss of knowledge was found after the 8-month follow-up, knowledge at the endpoint was significantly higher than at baseline for the 3 main outcome variables (p < .001). CONCLUSION: The teaching course on schizophrenia for general practitioners was effective, and the knowledge gained after teaching was stable across time.

[Peer review about gastro-esophageal reflux disease in primary care: epidemiology, diagnostic and therapeutic management]. / Revisione tra pari della malattia da reflusso gastro-esofageo in medicina generale: parametri epidemiologici e gestione diagnostico-terapeutica.

Retrospective research carried out by 29 General Practitioners in their databases, in order to evaluate the prevalence of gastro-esophageal reflux disease in its different clinical outbreaks and the incidence of new diagnosis in the last quinquennium, the diagnostic approach through instrumental examinations (endoscopy) or empirical tests (PPI test), and the therapeutical aspects, in particular concerning the usage of PPI. The prevalence has been of 3.82%, while the data concerning the incidence have pointed out a progressive increase of the diagnosis in the last quinquennium, specially for the atypical outbreaks. Moreover, it has been noted a likely excessive use of endoscopy, in the follow up as well, while less used is the IPP test. Gastroesophageal reflux disease is the most important item in the expenditure for the usage of IPP.