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

Patrick Soldath 1,2, Allan Lund 1,3, John Vissing 1,2

1 Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark; 2 Copenhagen Neuromuscular Center, Department of Neurology, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark; 3 Centre for Inherited Metabolic Diseases, Departments of Paediatrics and Clinical Genetics, Rigshospitalet, Copenhagen University Hospital, Copenhagen, Denmark

DOI 10.36185/2532-1900-003

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.

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