Prognostic Marker for Liver Disease due to Alpha1-Antitrypsin Deficiency

Abstract

Background:

Only some Alpha1-antitrypsin deficiency (A1ATD) PiZZ patients develop liver cirrhosis and portal hypertension. Aim of the study was to investigate the course of liver disease associated with PiZZ A1ATD and to determine prognostic factors.

Patients:

We retrospectively reviewed the clinical and laboratory data of all PiZZ children up to 18 years of age admitted to our centre since 1978. 53 patients (age at first visit 2 days to 12 years) met our criteria.

Methods:

The children were divided into 2 groups: group 1 ‘bad prognosis’, meaning the patients which were on the waiting list for liver transplantation (LTx), had a liver transplantation or had died, and group 2 ‘good prognosis’, containing the patients they were living with their own liver. We analysed family history including smoking, gestational age, maternal age at delivery, date of birth, sex, neonatal history, breast-feeding, symptoms at presentation, clinical and laboratory data and date of LTx and/or death.

Results:

Various anamnesis parameters such as manifestation of neonatal cholestasis showed no prognostic significance. In contrast the laboratory parameters thrombocytes (p=0.008), bilirubin (p<0.001), prothrombin time (p<0.001), choline­sterase (p<0.001), gamma-GT (p=0.001) and GOT (p=0.002) showed a correlation with a liver transplantation and/or death.

Conclusion:

Prognosis is difficult to determine at an early stage of this disease, but various laboratory parameters can help to predict an outcome. Therefore a regular follow-up is necessary for the children.

Zusammenfassung

Hintergrund:

Nur einige Patienten mit Alpha1-Antitrypsin-Mangel (A1ATD) PiZZ entwickeln eine Leberzirrhose und eine portale Hypertension. Ziel dieser Studie war es, den Verlauf der Lebererkrankung bei A1ATD zu verfolgen und Prognosefaktoren dafür zu identifizieren.

Patienten:

Es wurden retrospektiv erhobene klinische Daten und Laborparameter aller Patienten mit PiZZ im Alter von<18 Jahren ­analysiert, die seit dem Jahr 1978 an der Medizi­nischen Hochschule Hannover untersucht wurden. 53 Kinder (im Alter zwischen 2 Tagen und 12 Jahren) entsprachen den Kriterien.

Methode:

Die Patienten wurden in 2 Gruppen eingeteilt: Gruppe 1 „schlechte Prognose“, beinhaltet die Kinder, die auf der Warteliste für eine Lebertransplantation stehen, lebertransplantiert wurden oder verstorben sind, und Gruppe 2 „gute Prognose“ die Kinder, die mit eigener Leber leben.

Ergebnisse:

Sämtliche untersuchten klinischen und anamnestischen Parameter wie z. B. Vorhandensein oder Abwesenheit einer neo­natalen Cholestase zeigten keine prognostische Signifikanz. Dafür korrelierten die Laborparameter Thrombozyten (p=0,008), Bilirubin (p<0,001), Quick (p<0,001), Cholinesterase (p<0,001), Gamma-GT (p=0,001) und GOT (p=0,002) mit einer Lebertransplantation.

Schlussfolgerung:

Prognosefaktoren für das Frühstadium dieser Erkrankung sind schwer zu ermitteln. In dieser großen Langzeitstudie konn­ten wir zeigen, dass verschiedene Labor­parameter den Verlauf der Lebererkrankung prognostizieren können, sodass regelmäßige Verlaufskontrollen der Patienten notwendig sind.

Key words

pediatric hepatology - alpha1-antitrypsin deficiency - prognostic marker - liver transplantation

Schlüsselwörter

pädiatrische Hepatologie - Alpha1-Antitrypsin-Mangel - Prognosefaktoren - Lebertransplantation

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