MedPed – the reality of familial hypercholesterolemia care at the biggest center

Česká verzia

Authors: Martina Vaclová ¹; Tomáš Freiberger ²; Lucie Schwarzová ¹; Lukáš Tichý ³; Michal Vrablík ¹; Richard Češka ¹
Authors place of work: III. interní klinika 1. LF UK a VFN v Praze ¹; Centrum kardiovaskulární a transplantační chirurgie, Brno ²; Centrum molekulární biologie a genové terapie, Interní hematologická a onkologická klinika, FN Brno, pracoviště Bohunice ³
Published in the journal: Vnitř Lék 2018; 64(1): 38-42
Category: Reviews

Summary

The MedPed project (Make Early Diagnosis to Prevent Early Deaths) aiming at screening, diagnosis and treatment of patients with familial hypercholesterolemia (FH) was initiated more than 19 years ago. More than 60 cooperating centers and a large number of health care professionals have been involved. Till November 15, 2017 the nationwide database has comprised 7 567 entries of individual FH patients, 439 of these being children up to 19 years of age. Given the recently corrected estimated population frequency of FH of 1 to 250 this number represents 18.9 % of the predicted number of 40 000 FH individuals in the Czech Republic. Although the number of patients captured by the database seems to be relatively low, it is the third highest number in the world. This review describes working procedures of one of the national leading centers for FH in the Czech Republic. Additionally, a comparison of the up-to-date data set of 558 FH individuals being actively followed in the center to the original FH cohort (n = 190) as described by prof. Sobra in the late 1960 s. is being discussed.

Key words:
familial hypercholesterolemia – heterozygous – homozygous – project Medped

Zdroje

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