Krankheitsbild und Behandlung des schweren homozygoten Faktor-XIII-Mangels

Zusammenfassung

Der schwere homozygote Faktor-XIII-Mangel wurde zuerst 1961 in der Schweiz beschrieben. Zurzeit sind hier 14 Patienten bekannt, neun schweizerischer, die anderen osteuropäischer Abstammung. Eine 27-Jährige mit zahlreichen Blutungsepisoden während ihrer Kindheit in Jugoslawien erlitt als junge Frau in der Schweiz vier Episoden von hämorrhagischer Corpus-luteum-Zystenruptur mit lebensbedrohlichem Blutverlust und drei Blutungsepisoden in die retroperitoneale Muskulatur mit sensomotorischen Ausfällen. Seit der Diagnosestellung erhält sie alle vier Wochen 500 IE Faktor-XIIIKonzentrat und blieb blutungsfrei. Während Schwangerschaft und Entbindung wurde das Substitutionsintervall verkürzt und die Dosis erhöht.

Typisch bei schwerem homozygoten Faktor-XIII-Mangel sind wochenlange Blutungen aus dem Nabelstumpf, subkutane Hämatome, intrakranielle Blutungen, Muskelund Wundblutungen mit gestörter Wundheilung und auffallender Narbenbildung. Nicht substituierte Frauen erleiden obligat Frühaborte. Die Diagnose wird häufig qualitativ durch Testen der Gerinnsellöslichkeit mit Harnstoff (5 mol/l) oder Monochloressigsäure (1-2%) gestellt. Zur Bestätigung und Therapiekontrolle dient ein quantitativer Inkorporationsassay. Die Substitution mit dem Faktor-XIII-Präparat Fibrogammin® HS ist notwendig bei Blutung, Verletzung und Operation. Wegen des Hirnblutungsrisikos muss die einfach durchzuführende Dauersubstitution empfohlen werden.

Summary

Severe homozygous factor XIII deficiency was first described in Switzerland, in 1961. At present 14 patients are known here. Nine are of Swiss origin, the others are immigrants from eastern Europe. A 27-year-old woman with many haemorrhages during childhood immigrated to Switzerland and went through four episodes of haemorrhagic corpus luteum cyst rupture with life-threatening blood loss into the abdomen and three haemorrhages into the retroperitoneal muscles causing sensomotoric palsies, before the diagnosis was established. A monthly prophylactic replacement therapy of 500 IE factor XIII concentrate was started. Since then no signs of haemorrhage occurred. For the last trimester of pregnancy treatment intervals were shortened and dosage increased. Haemorrhage from the umbilical cord for weeks, subcutaneous haematomas, intracranial haemorrhage, muscle haemorrhage and wound bleeding with impaired wound healing as well as tendency to marked scar formation are characteristic for severe homozygous factor XIII deficiency. Without replacement therapy women suffer from obligate abortion. Diagnosis is made by the solubility of fibrin clots in urea (5 mol/l) or monochloroacetic acid (1-2%). For confirmation and monitoring of replacement therapy a quantitative incorporation assay is used. Replacement therapy is necessary in case of haemorrhage, injury, and surgery. Because of the high risk of intracranial haemorrhage prophylaxis is strongly recommended.

Schlüsselwörter

Faktor-XIII-Mangel - Blutungsmanifestationen

Keywords

Factor XIII deficiency - bleeding manifestations

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