Letter from the Czech Republic.

Abstract

Respiratory medicine in the Czech Republic is currently facing several challenges. Discussions on the optimal management of rare diseases, defined as those with a prevalence lower than 1:2000, are one of the hot topics. According to European Commission data, it is estimated that more than 600,000 people in the Czech Republic are affected by rare diseases. Currently, there is no systematic approach to healthcare for these patients, which leads to significant differences in the quality of their management. Cystic fibrosis (CF) is one of the few rare diseases with well-developed management schemes in the Czech Republic. The systematic approach to this disease dates back to the 1960s when its diagnostics (pilocarpine iontophoresis) was standardized, and first treatment attempts started in Czechoslovakia (Prague CF centre). Nowadays, diagnostic and management schemes reflect current international guidelines. Whole-population CF newborn screening has been available since 2009, based on immunoreactive trypsinogen blood levels and DNA analysis for the most common Cystic fibrosis transmembrane regulator (CFTR) gene mutations. Full spectrum of infant pulmonary function testing (iPFT) methods was introduced for CF in 2013 and is being used to tailor the intensity of therapy to the lung function status. Initial data from a pilot study detected increased ventilation inhomogeneity in 20% and lung hyperinflation in 25% of infants under 6 months of age.1 This is comparable to London Cystic Fibrosis Collaboration data,2 but unlike in the London study, mild progression during infancy was detected in Czech infants. Prague castle—landmark of the capital city of the Czech Republic. Primary ciliary dyskinesia (PCD) is gaining attention in the Czech pulmonologist community. Unlike CF, the healthcare system for PCD is not fully established, and this disease is significantly underdiagnosed. Approximately 150 patients with PCD were registered in the Czech Republic in 2022, which corresponds to a prevalence of 1:70,000 (compared to the estimated prevalence of 1:10–40,000). Thus, a high number of patients remain undiagnosed or have a wrong diagnosis. Recently, an information campaign among both specialists and the general public has been launched, and the number of patients diagnosed each year is increasing considerably. The median age at diagnosis is 9.4 years in the Czech Republic, but an increasing number of patients are diagnosed in preschool age and even in infancy. The impact of early diagnosis remains to be elucidated. Although Halbeisen et al.3 found no clear relationship between age at diagnosis and spirometry outcomes, they documented a decline in lung function among patient groups with increasing age. Our data from the pilot Czech PCD study suggest that there may be such a relationship. Moreover, using iPFT, we could detect lung function deficits already at the age of 3 months (yet unpublished data). The diagnostic approach to PCD consists of several steps. The probability of PCD in an individual patient is estimated using standardized predictive questionnaires such as PICADAR4 or a clinical index developed in the Motol PCD centre. It is a universal and easy-to-use tool that does not require any specific examinations. Its predictive power is comparable or even higher than that of PICADAR or other predictive tools.5 These predictive questionnaires guide decisions in primary care as to whether to send the patient for further examination. There are four centres across our republic where nasal nitric oxide levels and high-speed videomicroscopy are performed as a part of the diagnostic procedure. The full diagnostic approach is available in one reference centre (Motol PCD centre) and involves transmission electron microscopy (ultrastructure of cilia), immunofluorescence proof of several axonemal proteins, and genetic examination. The cell culture method is also available and may aid the diagnostic process in complicated cases. Specific healthcare programs are being developed for other rare diseases in the Czech Republic. Childhood interstitial lung diseases (chILD) are managed in two centres across the republic. Modern tools for diagnostics and monitoring have been introduced (iPFT, overnight monitoring of saturation, transcutaneous blood gas monitoring, transbronchial (cryo)biopsy, etc.). Complicated cases are discussed within the European chILD register held in Munich, Germany (chILD-EU-register). Antifibrotic treatment is tested in selected patients as an off-label indication. The approach to lung involvement in neuromuscular diseases is also being modified with new treatment options available (non-invasive ventilatory support, etc.). In conclusion, rare diseases are a great medical challenge in developed countries. They put high demands on both physicians and the healthcare system in general. Czech pulmonologists deal with numerous such diseases, including CF, PCD, chILD, and many others. While healthcare for some conditions (CF) is relatively well-established, there are numerous others (PCD, chILD, neuromuscular diseases) where much work needs to be done before high-quality medical care will be available. Multicentre research studies are needed to provide evidence on effective diagnostic approaches and therapies. Changes in healthcare system organization are also necessary to develop medically and economically effective systems. None declared.