Hereditary angioedema, a disabling condition, with high mortality when untreated, is caused by C1 inhibitor deficiency and other regulatory disorders of bradykinin production or metabolism. This review covers the remarkable progress made in biological therapies for this rare disorder. Over the past 10 years, several evidence-based parenteral treatments have been licensed, including two plasma-derived C1 inhibitor replacement therapies and one recombinant C1 inhibitor replacement for acute treatment of angioedema attacks and synthetic peptides for inhibition of kallikrein or bradykinin B2 receptors, with oral small molecule treatments currently in clinical trial. Moreover, recent advances in prophylaxis by subcutaneous C1 inhibitor to restore near-normal plasma function or by humanized antibody inhibition of kallikrein have resulted in freedom from symptoms for a high proportion of those treated. This plethora of treatment possibilities has come about as a result of recent scientific advances. Collaboration between patient groups, basic and clinical scientists, physicians, nurses, and the pharmaceutical industry has underpinned this translation of basic science into treatments and protocols. These in their turn have brought huge improvements in prognosis, quality of life and economic productivity to patients, their families, and the societies in which they live. For more information click here.
There has been an ongoing debate as to whether hemophilia A (HA) is more severe than hemophilia B (HB), and there are studies supporting each side of the argument. The study aimed to investigate whether any differences in major bleeding events exist between patients with severe HA and HB. A nationwide, population-based retrospective cohort study using the National Health Insurance Research Database was conducted. We compared 658 patients with severe HA and 137 patients with severe HB without inhibitors from 1997 to 2013, during the period when adult patients older than 18 years old were treated with the on-demand therapy since birth. There was no significant difference between patients with severe HA and HB in the rate of major bleeding events, with an adjusted relative ratio of 0.79 (95% confidence interval. There was also no significant difference in the incidence rate of major bleeding events between adult patients with HA and HB with the on-demand therapy, and an adjusted hazard ratio (HR) of 0.82. However, patients with HA had a lower incidence rate of intracranial hemorrhage, with an adjusted HR of 0.44. In addition, no significant difference in the frequency of major bleeding events requiring hospitalization between patients with HA and HB was found, P > .05. In conclusion, the study demonstrated that patients with severe HB encountered a similar rate of major bleeding events to those with severe HA. For more information click here.
X-linked hypophosphatemia (XLH) is a rare disease characterized by low phosphate levels. Scientific evidence points to a link between hypophosphatemia and obesity in general population. The aim of our longitudinal observational study was to investigate the prevalence of obesity and associated factors in a large cohort of children with XLH. We studied 172 XLH-children 5-20 years of age (113 girls/59 boys). Anthropometric parameters (weight, height, and BMI) were collected at birth and during follow-up at mean ages of 5.3, 8.2, 11.3, and 15.9 years (groups 1, 2, 3, and 4, respectively). In each group, subjects were classified based on International Obesity Taskforce (IOTF) cut off values of BMI for age and sex as overweight or obese (IOTF 25-30 or ≥30 kg/m2, respectively). One out of three of XLH-children have phenotypically unfavourable metabolic profile expressed as increased prevalence of overweight or obesity in comparison to general population. Both the lack of XLH family history and the duration of treatment increase the risk of higher BMI-IOTF. BMI should be carefully monitored in children, and later in adults, with XLH. For more information click here.
The objective of the contract is to facilitate and finance short-term professional stays for health professionals working in a healthcare provider, member or affiliated partner, of an ERN, in another provider of the same ERN. The goal of these visits is to share, exchange and acquire clinical and organisation expertise, best practices and knowledge among the ERNs members and to increase and strength the cooperation inside the network. For more information click here.
There are more than 6000 heterogeneous rare diseases and little is known about shared experiences of affected individuals in everyday life and healthcare. Objective of this study was to explore perceived burden of patients with rare chronic diseases and identify commonalities and differences in the experiences of patients with four heterogeneous conditions. In four separate and diagnostically homogeneous focus groups, we asked patients about the perceived burden of living with their rare disease. The focus groups took place at a university medical centre in Germany. We identified five main themes: medical problems, psychological burden, problems with the healthcare system, constraints and interpersonal problems. Despite clinical heterogeneity of rare diseases, affected individuals have many common experiences. Some of these experiences may resemble the burden of living with a chronic disease. However, patients reported aspects, which seem to be specific for rare chronic diseases. Generic interventions targeting shared burdens among patients with different diseases could provide adequate treatment in light of finite healthcare resources. For more information click here.
While genetics constitutes an important part of medical education, one can observe a lack of knowledge about rare diseases (RD) among medical students and healthcare professionals. Meanwhile, many RD are life threatening and chronically debilitating conditions that significantly reduce patients’ quality of life. Most RD patients experience various psychiatric symptoms, behavioral changes and mental retardation. Consequently, physicians should be educated on RD. Thus, the aim of this paper is to assess the knowledge about RD among future physicians. The study was conducted among 346 medical students of Poznan University of Medical Sciences. It showed that while 99.4% of respondents had heard the term ‘rare disease’ and 90.5% knew its main cause, only 11.5% correctly estimated the prevalence of RD. Moreover, only 35.3% knew what percentage of RD is of genetic character and 24.9% that RD are most common among children. Additionally, very few students knew the number of RD patients in Poland (5.2%). For more information click here.
The first atlas, showing the mortality from rare disease in Spain is available online. It is the first analysis based on ICD10 and aimed to population mortality from 1999-2013. We will add until year 2018 in a few weeks. This atlas shows the population-based mortality due to Rare Diseases, its time trends and geographic variability. The epidemiological information is presented as a complement to the data from existing Rare Diseases registries. For more information click here.
The media campaign “Like All of Us”
aims to inform the public about rare diseases by answering the most frequently asked questions and by telling personal stories of the people affected by them.
What are rare diseases? Those are diseases that affect less than 1 in 2 000 people. It is estimated that about 6% of the Bulgarian population suffer from rare diseases. With the advancement of medicine and innovative technologies, the opportunities for early diagnosis and treatment of people affected by rare diseases are significantly increased, which helps them living a fulfilling life, create families and have successful personal and professional realization in the society.
In Bulgaria there are only 22 people with Gaucher disease – a hereditary disease in which the body cannot break down the lipid glucocerebroside. In patients, there is an accumulation of the lipid in the liver, spleen, bone marrow and nervous system, which interferes with their normal functioning. The research work of many scientists around the world has led to the creation of enzyme replacement therapy, as a result of which people with Gaucher disease can have now an independent and fulfilling life. Take a look at the story of one patient with Gaucher disease in Bulgaria, Christian Dimitrov and find out more about this rare disease.
Thalassemia is a hereditary disease that affects hemoglobin synthesis. Hemoglobin is a part of the red blood cells and its main function is to carry oxygen to the body. A person with this disease produces “defective” hemoglobin, which makes red blood cells (erythrocytes) unstable and they are destroyed faster than usual. Women with the heavier forms of thalassemia have not been able to have children until recently due to the damage of the disease to the body. Now, thanks to the development of medicine, women with this disease can become pregnant and have healthy children. Learn about the story of Maria Ermakova from Stara Zagora, who was diagnosed with beta-thalassemia major, but that did not stop her from dreaming and starting a family.
Haemophilia is a disease that is characterized with impaired blood clotting. Due to the lack of a blood clotting factor, it takes longer for the bleedings to stop, which makes even the slightest scratches or injuries dangerous. This rare disease mainly affects men with a frequency of 1 in every 5 000. Innovations in medical science have led to the creation of treatments that allow patients to live actively and even exercise. Find out more about haemophilia from the story of Dimitar Petrov and Boyan Boyanov, who is also one of the first diagnosed patients in Bulgaria.
The media campaign “Like All of Us” is organized by the Institute for Rare Diseases, the National Alliance of People with Rare Diseases and the Association of the Research-Based Pharmaceutical Manufacturers in Bulgaria (ARPharM). For more information: www.raredis.org
Spinal muscular atrophy with respiratory distress type 1 (SMARD1) is a rare autosomal recessive neuromuscular disorder caused by mutations in the IGHMBP2 gene, which encodes immunoglobulin μ-binding protein 2, leading to progressive spinal motor neuron degeneration. We review the data available in the literature about SMARD1. The vast majority of patients show an onset of typical symptoms in the first year of life. The main clinical features are distal muscular atrophy and diaphragmatic palsy, for which permanent supportive ventilation is required. No effective treatment is available yet, but novel therapeutic approaches, such as gene therapy, have shown encouraging results in preclinical settings and thus represent possible methods for treating SMARD1. Significant advancements in the understanding of both the SMARD1 clinical spectrum and its molecular mechanisms have allowed the rapid translation of preclinical therapeutic strategies to human patients to improve the poor prognosis of this devastating disease. For more information click here.
Kabuki syndrome is a rare genetic disorder characterized by distinct dysmorphic facial features, growth deficiency, intellectual disabilities, unusual dermatoglyphic patterns, and skeletal abnormalities. The incidence of hip dislocation in Kabuki syndrome ranges from 18% to 62%. We reviewed the outcomes of management of hip dislocations in patients with Kabuki syndrome with special attention to the diagnostic processes for hip dislocation and Kabuki syndrome. Among 30 patients with mutation-confirmed Kabuki syndrome, we selected six patients who had hip dislocations and reviewed their medical records and plain radiographs. The modes of presentation and diagnostic processes for both hip dislocations and Kabuki syndrome were investigated. The management and treatment outcomes of hip dislocations in patients with Kabuki syndrome were evaluated. The management of hip dislocation by conservative or surgical method showed successful results. Awareness of Kabuki syndrome could lead to an early diagnosis of this rare disease in patients with hip dislocation and allow for early detection of other underlying conditions and multidisciplinary management. For more information click here.