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Late-onset MADD: a rare cause of cirrhosis and acute liver failure?

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DOI

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Vis graf over relationer

Late-onset multiple acyl-CoA dehydrogenase deficiency (MADD) is a severe inborn error of fat metabolism. In late-onset MADD, hepatopathy in the form of steatosis is commonplace and considered a benign and stable condition that does not progress to more advanced stages of liver disease, however, progression to cirrhosis and acute liver failure (ALF) has been reported in two previous case reports. Here, we report a 22-year-old man, who suffered from late-onset MADD and died from cirrhosis and ALF. In the span of three months repeated clinical examinations, blood tests, and diagnostic imaging as well as liver biopsy revealed rapid progression of hepatopathy from steatosis to decompensated cirrhosis with portal hypertension. Routine studies for recognized etiologies found no evident cause besides MADD. This case report supports the findings of the two previous case reports and adds further evidence to the suggestion that late-onset MADD should be considered a rare cause of cirrhosis and ALF.

OriginalsprogEngelsk
TidsskriftActa Myologica
Vol/bind39
Udgave nummer1
Sider (fra-til)19-23
Antal sider5
ISSN1128-2460
DOI
StatusUdgivet - mar. 2020

Bibliografisk note

©2020 Gaetano Conte Academy - Mediterranean Society of Myology, Naples, Italy.

ID: 61072840