Congenital Erythrocytosis and Polycythemia Vera in Childhood and Adolescence

Abstract

Polycythemia vera - the most frequent form of a primary erythrocytosis in adult patients - represents an extremely rare disease in pediatric and juvenile patients as do congenital primary and secondary erythrocytoses. Frequently, in patients with these diseases clinical problems do not occur before adulthood. Systematic data on clinical and laboratory evaluations as well as on treatment regimens are sparse. In addition, in the majority of cases with congenital erythrocytosis, the etiology is unknown.
For those reasons, a protocol (PV-ERY-KA 03) for the systematic collection of clinical, hematological, biochemical, biological as well as treatment data of children and adolescents with polycythemia vera or congenital erythrocytosis including the hemoglobinopathies with high affinity hemoglobin, familial 2,3-BPG deficiencies, and those of unknown origin, has been developed.
These data are combined with molecular analyses which focus initially on EPO-receptor and vHL-gene examination, but will later be extended into presently unexplored pathophysiologic regulatory circuits. In addition, pathophysiologic changes due to the erythrocytosis will be studied.
The co-ordinated medical care for patients with those rare diseases within a collaborative trial accompanied by scientific projects is aimed at the improvement of the treatment of these patients as well as to a better understanding of the underlying biological processes.

Zusammenfassung

Kongenitale primäre und sekundäre Erythrozytosen sind selten und führen oft erst im Erwachsenenalter zu klinischen Problemen. Auch die Polycythaemia vera - die häufigste Form einer primären Erythrozytose im Erwachsenenalter - ist im Kindesalter eine sehr seltene Erkrankung. Systematisch erhobene Daten zu Klinik, paraklinischen Befunden und zur Behandlung dieser Krankheitsbilder im Kindes- und Jugendalter existieren nicht. Die Mehrzahl der Fälle kongenitaler Erythrozytosen ist ätiologisch ungeklärt.
Es wurde ein Studienprotokoll (PV-ERY-KA 03) entwickelt, das die systematische Analyse klinischer, biochemischer und molekularbiologischer Charakteristika sowie die Erfassung von Behandlungsdaten von Patienten mit kongenitalen Erythrozytosen, einschließlich derer mit Hämoglobinopathien mit erhöhter Sauerstoffaffinität, mit familiärem 2,3-DPG-Mangel sowie mit Erythrozytosen bislang unbekannter Ursache, ermöglichen soll. Pädiatrische Patienten mit einer Polycythaemia vera werden in die Studie einbezogen. Die molekulargenetischen Analysen sind initial auf den Erythropoietin-Rezeptor sowie das vHL-Gen fokussiert und werden später auf bisher ungeklärte pathogenetische Mechanismen ausgedehnt. Begleitend sollen Untersuchungen zu durch die Erythrozytose bedingten pathophysiologischen Veränderungen erfolgen.
Die Zusammenfassung von Patienten mit diesen seltenen Krankheitsbildern und deren gemeinsame Betreuung im Rahmen einer klinisch-epidemiologischen Studie mit begleitenden wissenschaftlichen Projekten soll zu einer besseren Versorgung der Patienten und zu einem besserem Verständnis der zugrundeliegenden Prozesse beitragen.

Key words

Congenital erythrocytosis - polycythemia vera - polycythaemia - polyglobuly - observational trial

Schlüsselwörter

Kongenitale Erythrozytose - Polycythaemia vera - Polyzythämie - Polyglobulie - Studie

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