The European Union defines a disease as rare when it affects fewer than 5 per 10 000 persons, whereas the USA considers a condition rare if it affects fewer than 200 000 individuals. To date, however, there is no terminology to appropriately address these diseases as a category other than rare diseases, or in some instances orphan diseases when referring to conditions that lack the resources for treatment discovery. For more information click here.
“I have HAE. I’ll be stronger with your support” is the motto of this year’s international HAE day in Bulgaria, organized by the association HAE and celebrated on the 16th of May. All the members of the organization call for support the society, families and friends of the patients. As a support, the municipality of Plovdiv joined the event and have illuminated the building of the central municipality in blue. The event is organized together with the National Alliance of People with Rare Diseases, Mr. Georgi Tityukov (Mayor of Social Policy and Sport – Plovdiv), Institute for Rare Diseases, Profesional School of Food Technology and Technologies – Plovdiv and others.
Rosai-Dorfman disease (RDD) with isolated central nervous system (CNS) involvement is an extremely rare disease. Most RDD of the CNS present as dural-based mass mimicking meningioma and other common lesions, which makes preoperative accurate diagnosis of great difficulty. We searched the pathology database in our hospital and 3 cases of RDD with isolated CNS involvement were finally included in our study. Radiological and clinical findings of these three cases were retrospectively analyzed. The lesions of 2 cases were dura-based against the cerebral convexity, presenting as a sheet-shaped thickened dura mater, another case was located just across the cerebral falx, the dural display in the center was intact. The 3 cases showed low signal intensity on T2-weighted image, obviously enhanced, significantly surrounding edema and finger-like protuberance but no invasion of the brain parenchyma or no sign of hyperplasia or sclerosis of the surrounding cranial bones. In conclusion, when we come across a disease that mimicking meningioma, especially when it manifests as the above radiological features, we should considered it might be a kind of proliferative disease of the meninges, such as RDD. For more information click here.
An international meeting in support of the patients with acute porphyria will be held in Sofia on 06.06.2019 in the National Center of Public Health and Analyses from 13:00-17:00. Participants in the event will be patients with porphyria and their families, medical students and interns, general practitioners from the country and other medical specialist from the National Alliance of People with Rare Diseases (NAPRD). The participation of the event is free of charge but you need to register before 30.05.2019. For more information open the program of the event.
Kimura’s disease (KD) is a rare condition, with only a few cases reported to date, mainly in Asian patients. We herein present the case of a 48-year-old man with KD who presented with recurrent masses in the right parotid gland and neck region over a 15-year period. The masses were not accompanied by pain, or significant functional or neurosensory dysfunction. The results of the laboratory tests revealed an increased eosinophil count and markedly elevated serum IgE levels. On magnetic resonance imaging examination, a widespread abnormal signal was detected in the area of the lesions; the contrast-enhanced scan revealed inhomogeneous enhancement, with partial involvement of the sternocleidomastoid muscle and the parotid gland. The patient underwent surgical resection of the right parotid and neck masses, and the postoperative pathological examination revealed eosinophilic hyperplastic lymphogranuloma, also referred to as KD. This presented case and review of the relevant literature aim to improve our understanding of KD in order to increase the accuracy of diagnosis, reduce the misdiagnosis rate and ensure proper treatment of this rare disease. The full article you can find here.
Haddad syndrome (HS) is a very rare disease considered a form of neurocristopathy. It is characterized by a combination of congenital central hypoventilation syndrome (CCHS) and Hirschsprung’s disease (HD). We report the clinical features and disease progression of HS to provide better care for HS patients by achieving an earlier diagnosis and optimal treatment. Medical records of patients diagnosed with HS from 2005 to 2016 were retrospectively reviewed. Demographic data including gestational age, birth weight and height, and paired-like homeobox 2b (PHOX2B) gene mutation were collected.
HS may require lifelong medical care. This study could be helpful to understand the clinical features of HS including associated abnormalities and disease progression. By assisting to understand the clinical features, we could provide better care for HS patients by achieving an earlier diagnosis and appropriate treatment. To read the full report check here.
In the last decades both diabetes mellitus and Alzheimer’s disease are constantly increasing. Affected individuals, therefore, represent an enormous problem for society, governments and global organizations. These diseases are usually considered as independent conditions, but increasing evidence shows that there are links between these two disorders. Some pathogenetic factors are shared by Type 2 Diabetes and Alzheimer’s Disease: chronic inflammation, oxidative stress, mitochondrial dysfunction, adiponectin deficiency, different expression of plasma cholinesterase activity and vascular damage could represent a possible explanation for the coexistence of these two conditions in many patients. A better understand of this issue and an appropriate management of diabetes by means of physical activity, low fat diet, and drugs to achieve a good glycemic control, avoiding both hyperglycemia and hypoglycemia, can represent a way to prevent cognitive decline and Alzheimer’s disease. The full article you can find here.
Paget-Schroetter Syndrome (PSS) or effort thrombosis of the axillary-subclavian venous axis is a rare disease affecting healthy young adults which requires a high index of suspicion to diagnose. Management often requires not only anticoagulation but also thrombolysis with first rib resection to prevent recurrence and complications. We present a case of a 31-year-old male who presented to our emergency department with pain and swelling of his left upper limb. He was diagnosed with PSS and underwent; anticoagulation, catheter directed thrombolysis and planned for first rib resection. To read more about this case check here.
Despite extensive research regarding the etiology of Huntington’s disease, relatively little is known about the epidemiology of this rare disorder, particularly in the United States where there are no national-scale estimates of the disease. The objectives of the research are to provide national-scale estimates of Huntington’s disease in a U.S. population and to test whether disease rates are increasing, and whether frequency varies by race, ethnicity, or other factors.Using an insurance database of over 67 million enrollees, we retrospectively identified a cohort of 3,707 individuals diagnosed with Huntington’s disease between 2003 and 2016. We estimated annual incidence, annual diagnostic frequency, and tested for trends over time and differences in diagnostic frequency by sociodemographic characteristics.
Тhe research findings suggest that disease patterns may be more driven by social or environmental factors. To find out more about the research and its outcomes, read the full article here.