Langerhans cell histiocytosis (LCH) is a clonally expanding neoplasm characterized by the accumulation of CD1a + CD207 + myeloid dendritic cells. As LCH is a rare disease and is presumed to mainly affect children, the clinical features and treatment outcomes of adult LCH have been poorly documented. We retrospectively reviewed 53 adult patients with LCH who were referred to the Institute of Medical Science, the University of Tokyo from 2005 to 2018. The median age at diagnosis was 42 years with a slight female predominance (57%). The time between onset and diagnosis varied among patients (median, 8 months; range, 0-144 months). In total, 40% of the patients had single organ involvement and 60% had multiple organ involvement. Overall, the most frequently affected organ was bone (62%), followed by the central nervous system (34%), and the lung (28%). Twenty-six patients required systemic treatment, and 25 patients underwent the Special C regimen. For more information click here.
Neurofibromatosis type 1 (NF1) syndrome is a common rare/orphan disease that manifests itself early in the paediatric age. It imposes a considerable burden upon patients as well as on caregivers. Decisions regarding optimal care often rely on several medical instances working together as a team. The authors reviewed the literature and supplied a description of their own clinical work at the NF1 centres. The experience of a multidisciplinary teamwork of three NF centres was summarized in order to enhance awareness for possible multidisciplinary ways of delivery of health and health-related aspects of care to NF1 patients. Both population-focused research centres and family-focused centres were reviewed. For more information click here.
Osteogenesis imperfecta, fibrous dysplasia/McCune-Albright syndrome and X-linked hypophosphatemia are three rare musculoskeletal diseases characterised by bone deformities, frequent fractures and pain. Little high-quality research exists on appropriate treatment and long-term management of these conditions in adults. This is further worsened by limited research funding in rare diseases and a general mismatch between the existing research priorities and those of the patients. This partnership adopted the James Lind Alliance approach to identify the top 10 research priorities for rare musculoskeletal diseases in adults through joint patient, carer and healthcare professional collaboration. For more information click here.
Pulmonary alveolar proteinosis (PAP) is a heterogeneous group of rare diseases characterized by the abnormal production and impaired degradation of pulmonary surfactant as a result of malfunctioning of alveolar macrophages. This is due to the downstream dysregulation of the GM-CSF pathway, which can be caused by specific autoantibodies (autoimmune, aPAP formerly known as idiopathic iPAP), direct injury to alveolar macrophages (e.g. by toxic inhaled agents.), or by genetic defects (hereditary or congenital PAP). Few pharmacotherapy options are currently available to treat this disease. For more information click here.
The 11th National Conference for Rare Diseases and Orphan Drugs will be held online on 11-12 September 2020 at the Virtual Congress Venue of the Institute for Rare Diseases. The main topic of the event will be the novelties and current trends in the diagnosis, treatment and follow-up of rare diseases, the development of European reference networks and access to innovation in the field of rare diseases.
The registration for medical specialists, PhD students, students, patients and patient organizations is FREE OF CHARGE until 15 August 2020!
The Virtual Congress Venue of the Institute for Rare Diseases is now open for registrations. The website of the Virtual Congress Venue is: https://vcv.raredis.org/.
Subscribe to our YouTube channel, where you can find a short video, explaining how the Internet platform of the Virtual Congress Venue works: https://youtu.be/60ugYXsuQjs
We are expecting you at the Virtual Congress Venue!
Adult coeliac disease (CD) affects approximately 1% of the population. Most patients diagnosed will respond to a gluten-free diet; however, up to 30% may have persisting symptoms. Such patients may have ongoing issues associated with adherence, non-responsive CD or refractory CD. This article provides a clinical overview of how to manage this group of patients with persisting symptoms, including an investigational algorithm and details of how to contact the National Health Service England Rare Diseases Collaborative Network for Non-Responsive and Refractory Coeliac Disease. We hope this will be a valuable source of contemporary information for all UK gastroenterologists and internationally. For more information click here.
Pulmonary hypertension (PH) is a pulmonary vascular disease characterized by pulmonary arterial remodeling and vasoconstriction leading to elevated pulmonary artery pressure and, ultimately, right heart failure. So far, few cases of COVID-19 disease in patients with PH have been reported. Caution is warranted in interpreting this observation as data are evolving and several factors may influence the number of reported cases of PH and COVID-19. Social distancing and quarantine could play a role, especially for patients with chronic diseases who might be more vigilant of their potential for respiratory infection. In addition, PH is a rare disease, and because testing is not universal, we could be underestimating the number of cases. Other hypothetical factors to consider are the underlying pathophysiology of PH and the medications used to treat PH and their implications in COVID-19. For more information click here.
On December 31, 2019, the World Health Organization reported cases of pneumonia of unknown etiology. Аuthorities published later the main cause – coronavirus (SARS-CoV-2) which was the reason billions of people to be placed under social isolation. As any other communicable disease affecting public health, there is an increasing awareness among people who have co-morbidities or bleeding disorders, such as hemophilia and other rare diseases. For more information click here.
We present a clinical case of a patient diagnosed at age 9 with plexus brachialis neurofibroma. The purpose is to monitor the diagnostic and therapeutic procedures of the multidisciplinary team with an emphasis on the effectiveness of physiotherapy for full recovery. The complexity of the pathology requires collaboration in a multidisciplinary team, with the emphasis being on the role of physiotherapy and its rehabilitation in the recovery of the patient. Magnetic resonance imaging shows the tumor formation in the cervical region, surgically removed, after the completion of four courses of physiotherapy the full volume of active movements in the respective joints is restored. As a result of early initiated, comprehensive and individually targeted physiotherapy and rehabilitation after surgery, complete recovery of the patient is achieved. For more information click here.
Retinitis pigmentosa and Leber’s congenital amaurosis are rare inherited retinal distrophies that lead to irreversible blindness. The remarkable genetic heterogeneity of these diseases is due not only to the large number of genes involved, but also to the fact that mutations in a particular gene can cause different phenotypic variants, varying in severity, disease progression and inheritance. Logically, there is no unified classification that combines all clinical and genetic forms of the retinal pigment dystrophies. In this context, epidemiological research in clinical practice encompasses the studied contingents by different clinical-genetic and age criteria. This makes it extremely difficult to study and evaluate the epidemiology of the various forms of inherited retinal dystrophy. Despite the existence of clinical experience and a thorough knowledge of these diseases in Bulgaria, there is no published epidemiological data for the local population. This publication aims to analyze epidemiological data on retinitis pigmentosa and Leber congenital amaurosis and to provide an epidemiological assessment of the prevalence of these diseases in Bulgaria. For more information click here.