Angioedemul ereditar – de la registru la program naţional

Hereditary angioedema (HAE) is a rare genetic disorder with an estimated prevalence of 1/50000 individuals. The expected number of HAE patients in Romania may be as much as 400. To have a rigorous case record, and consequently, an analysis of specific intervention needs, costs, and quality of life, rare diseases require a reference center and a registry to collect the dispersed cases in a single database. The Romanian HAE Pilot Center was founded in 2006 and was recently accredited as Center of Reference for HAE. The Romanian HAE Registry is available since 2008 and presently enrolls a number of 108 patients. The access to the database is restricted to authorized personnel and the collected data are anonymous. The patient records include several data to be completed regarding disease, treatment history, and the laboratory tests that confirm the diagnosis. Additional information may be added to these initial data. The Romanian HAE Registry will be connected soon with the Global HAE Registry. A number of effective treatments have been developed specifically for the prophylactic and on-demand treatment of this disease. All of these medications are administered by intravenous or subcutaneous injection. Current clinical guidelines unanimously recommend home treatment for all patients with HAE. Since April 2017 the Romanian HAE patients have access to treatment with icatibant through a national program. Icatibant is a subcutaneously administered B2 receptor antagonist which can be auto-administered. This national program will include only adult patients diagnosed with HAE by the Reference Center and registered in the National HAE Registry. The medical letter will be renewed annually at the Reference Center. Starting this year, the quality of life of these patients, orphans of our public health system, will change radically.