Verschiedene Formen der Hämophilie^[*)]

Zusammenfassung

Die verschiedenen, durch Mangel eines für die Bildung der Plasmathrombokinase erforderlichen Faktors bedingten hämorrhagischen Diathesen — die Hypo-prothromboplastinämien — können nicht auf Grund ihrer klinischen Symptomatologie, sondern nur durch genaue Untersuchung der Gerinnungsstörung voneinander differenziert werden. Die Bezeichnung Hämophilie mit den Suffixen A und B sollte nur für jene geschlechtsgebunden-rezessiv vererbbaren hämorrhagischen Diathesen verwendet werden, die ausschließlich durch einen Mangel an Faktor VIII bzw. IX bedingt sind. Das Ausmaß der Verminderung dieser Faktoren ist innerhalb einer Familie konstant und erbmäßig bedingt, wodurch familiäre Krankheitstypen entstehen. Ein Mangel an Faktor VIII kann sich auch bei Patienten mit Faktor V-Mangel als Begleithämophilie und bei Patienten beiderlei Geschlechtes in Verbindung mit einer verlängerten Blutungszeit als Hämophilia vascularis finden. Die Kombination einer Verminderung von Faktor IX und VII sowie ihre mögliche Beziehung zur Verminderung des Stuart-Faktors wird diskutiert. Die physikalisch-chemischen Eigenschaften der für die Blutthrombokinasebildung erforderlichen Plasmafaktoren (mit Ausnahme von Faktor V) werden miteinander verglichen und die differentialdiagnostischen Möglichkeiten in Tabellen zusammengestellt. Das Fehlen eines Gerinnungsfaktors kann auch durch Blockierung durch einen Hemmstoff vorgetäuscht werden. Das Auftreten immunologisch bedingter Hemmstoffe bzw. die Vermehrung von Antikephalin ist für die Therapieresistenz hämophiler Patienten verantwortlich zu machen. Die Erkenntnisse über das Verhalten der Gerinnungsfaktoren der Vorphase ermöglichen eine differenzierte, planmäßige Therapie der Hypo-prothromboplastinämien.

^* Referat, gehalten am 8. Internationalen Kongreß für Kinderheilkunde, Copenhagen, 22. bis 27. Juli 1956.

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