Clinical Cases

Selected clinical observations have complemented my experimental and translational research. Four cases were particularly instructive because they revealed uncommon mechanisms of liver disease or limitations in routine diagnostic interpretation.

Systemic sarcoidosis primarily diagnosed in the liver. An unusual presentation in which liver findings led to the diagnosis of systemic sarcoidosis.

Hereditary hyperferritinemia-cataract syndrome. The first reported German family illustrated a genetic cause of marked hyperferritinemia without classical iron overload.

Gastrointestinal stromal tumor causing mechanical cholestasis. A rare mechanical cause of cholestasis that required integration of clinical, imaging and anatomical findings.

Systemic mastocytosis with markedly increased liver stiffness. The case demonstrated that extreme liver stiffness may arise from infiltrative disease and does not necessarily indicate conventional cirrhosis.

Selected publications

Extrapulmonary sarcoidosis primarily diagnosed in the liver. Mueller S et al. Scand J Gastroenterol. 2000;35(9):1003–1008.
Hereditary hyperferritinemia-cataract syndrome—the first family in Germany. Millonig G et al. Z Gastroenterol. 2009;47(12):1211–1215.
Gastrointestinal stromal tumor in a patient with undiagnosed neurofibromatosis type I: an uncommon cause of extrahepatic cholestasis. Millonig G, Giesel FL, Reimann FM, Topalidis T, Seitz HK, Mueller S. Z Gastroenterol. 2010;48:479–481. doi: 10.1055/s-0028-1109604. PMID: 20352594. PubMed
Systemic mastocytosis: a rare case of increased liver stiffness. Adolf S et al. Case Rep Hepatol. 2012;2012:728172.