Akute Schwangerschaftsfettleber mit fetalem Defekt im Enyzm Langketten-3-hydroxyacyl-CoA-Dehydrogenase (LCHAD)

Einleitung:

Acute fatty liver of pregnancy, characterized by microvesicular fatty infiltration of hepatocytes, it is rare, with an approximate incidence of 1 in 7000 to 1 in 20,000 deliveries. It is more common with multiple gestations and possibly in women who are underweight. It is not always diagnosed prior to delivery. The most frequent symptoms are nausea or vomiting (approximately 75 percent of patients), abdominal pain, anorexia, and jaundice. About one-half of patients have signs of preeclampsia at presentation. The diagnosis of acute fatty liver of pregnancy is usually made clinically based upon the setting, presentation, and compatible laboratory results (abnormal liver tests, bilirubin, The platelet count may be decreased with or without other signs of disseminated intravascular coagulation (DIC), elevations in serum ammonia, prolongation of prothrombin time, hypoglycemia and hyperuricemia). The major other condition that must be excluded is the HELLP syndrome, which is characterized by hemolysis, elevated liver enzymes, and a low platelet count. The primary treatment is prompt delivery of the fetus after maternal stabilization.

Fall:

31-jährige, I. Gravida I. Para mit BMI 16,3 wurde bei V.a HELLP-Syndrom, vorzeitiger zervixwirksamer Wehentätigkeit, sowie IUGR in der 34/0 SSW übernommen. Die Frau klagte über Übelkeit, Erbrechen, sowie zunehmende Oberbauchschmerzen seit 2 Tagen. Im Aufnahme-Labor zeigten sich erhöhte Transaminasen, Bilirubin, Kreatinin, PTT, CrP Werte, sowie niedrige Thrombozytenzahl und ein erniedrigter Quick. Bei pathologischem antenatalen CTG und mütterlicher Hepatorenaler Entgleisung wurde der Entschluss zur Sectio in der 34/1 gefasst. Es wurde ein Mädchen entwickelt, das auf die Neonatologie verlegt wurde. Postoperative stabilisierende Maßnahmen führten zu allmählicher klinischer Besserung der Wöchnerin und Normalisierung der Laborwerte. Beim auffälligen kindlichen Stoffwechselscreening (LCHAD Enzym-Mangel) wurde die mütterliche Vorstellung nach 2 – 3 Monaten zur genetischen LCHAD- Abklärung empfohlen.

Diskussion:

The association of cases of acute fatty liver of pregnancy with one of the inherited defects in mitochondrial beta-oxidation of fatty acids, (LCHAD) deficiency, suggested that some affected women and their fetuses might have an inherited enzyme deficiency in beta-oxidation that predisposes the mother to this. The LCHAD catalyzes the third step in the beta-oxidation of fatty acids in mitochondria. The accumulation of long-chain 3-hydroxyacyl metabolites produced by the fetus or placenta is toxic to the liver and may be the cause of the liver disease.

Schlussfolgerungen:

Early diagnosis for acute fatty liver of pregnancy and prompt delivery has dramatically improved the prognosis. All women with acute fatty liver of pregnancy and their children should undergo molecular testing for LCHAD. Acute fatty liver can recur in subsequent pregnancies.

Quellenangabe:

Uptodate, Acute fatty liver of pregnancy, Authors: Richard H Lee, MDTram T Tran, MD