Diagnostic delay of rare diseases in Europe and in Hungary

Abstract

The qualitative survey demonstrated that the problems with the diagnosis of rare diseases are widespread, the identified areas require interventions, and it confirmed the importance of centralized care.

Diagnostic Support for Selected Paediatric Pulmonary Diseases Using Answer-Pattern Recognition in Questionnaires Based on Combined Data Mining Applications—A Monocentric Observational Pilot Study

“…While various algorithms for the work-up in children with chronic cough exist, the extrapolation of adult-based strategies into a paediatric population can be difficult [ 2 ]. Sometimes the reason for the cough might be obvious, but especially children with rare diseases frequently receive wrong diagnoses and medications because an underlying condition for the chronic airway infection was overlooked [ 9 – 12 , 33 ]. Therefore, diagnostic support, which is independent of radiological or even clinical input, but driven solely by the strength of parental observation and data mining techniques, might be a useful diagnostic support tool.…”

“…Therefore, diagnostic support, which is independent of radiological or even clinical input, but driven solely by the strength of parental observation and data mining techniques, might be a useful diagnostic support tool. Accordingly, this study and the diagnostic tool under investigation might fill a gap, because many studies suggest that diagnostic support is needed for children with chronic cough or for patients with rare pulmonary diseases where diagnostic latency may result in undesired long-term sequaelae [ 9 , 10 , 25 ].…”

“…This illustrates that children with chronic airway infections or an underlying rare medical condition are often at risk of incorrect diagnoses [ 9 ]: In Germany, children suffering from cystic fibrosis (CF) are often not diagnosed before the age of 5 years whilst the diagnosis is provided much earlier in countries with established neonatal screening programmes [ 10 ]. The diagnosis of primary ciliary dyskinesia (PCD) is also frequently delayed.…”

Focus shifts in the Hungarian reimbursement system. Funding of orphan medicinal products for rare disease patients in Hungary: Financing of orphan medicines

“…Ezt a célt szolgálja az Európai Unió által szervezett és társfi nanszírozott, hazánk által is vállalt feladat, a Ritka Betegség Nemzeti Terv létrehozása, amelynek egyik kulcseleme a szakértői köz-pontokban történő, felülről szervezett ellátás [11], az információk és adatok szisztematikus gyűjtése, az össze-hangolt nemzeti-nemzetközi betegregiszter-rendszer létrehozása, és nem utolsósorban a nagy értékű gyógy-szeres kezelés racionalizálása [12].…”

The structure of hereditary diseases in children hospitalized in a specialized clinic

“…Имеются данные, что 40% больным первоначально устанавливается ошибочный диагноз, и это влечет ненужные медицинские манипуляции; 25% пациентов получают истинный диагноз только после длительного обследования (5-6 лет и более). Подсчитано, что для уточнения природы заболевания, назначения целенаправленного обследования обычно требуется вмешательство не менее 3 клиницистов [3][4][5]. Вопрос правильного установления диагноза с идентификацией генетической мутации приобретает особую важность в связи с неуклонно расширяющимся спектром наследственных болезней, доступных патогенетическому лечению [6,7].…”