TBA (26S201)

A Slam ‘Dunc’ Diagnosis: When Mono is not the only problem

Author(s)

Dr Áine Ní Chianáin; Dr Robert Henderson, Dr Chris Steele, Dr Ruth Morrell, Prof Susan McKiernan

Department(s)/Institutions

Hepatology Centre, St James' Hospital, Dublin 8, Ireland

Introduction

We would like to present the case of an 18 year old male who presented to hospital with fulminant liver failure and a severe life threatening haemophagocytic reaction, requiring multiple immunosuppressants after contracting a common infection. This young male was predisposed to such an illness due to a inherited genetic condition, Duncan Syndrome. As his fulminant hepatitis began to settle, his clinical condition acutely deteriorated with acute peritonitis, and plain film imaging showing pneumoperitoneum, confirmed on CT. He proceeded to emergency surgery, where a pinhole gastric perforation was identified, and managed via omental patch, and after 24 hours in ICU, progressed well and returned to the ward. His family history was notable for 3 maternal uncles, who all passed in early childhood, and for whom a diagnosis of Duncan Syndrome had been postulated. This is an X Linked lymphoproliferative disorder, resulting in severe immune dysfunction, typically triggered by EBV infection, and which can be fatal without early immunosuppression and ultimately a bone marrow transplant. Our patient has gone on to make a excellent recovery. He is now at home, returning to exercise and school, and is awaiting review in the UK for bone marrow transplant. His underlying condition was confirmed through genetic testing.

Aims/Background

Our patient presented to his GP with increasing fatigue, dizziness and an acute history of fevers. A monospot test was positive, but he was referred to ED due to development of jaundice, pale stool and dark urine. A diagnosis of EBV hepatitis was made, but the patient’s clinical condition deteriorated with worsening LFTs and a finding of splenomegaly on imaging. He also met other criteria for HLH, including hyperferritinemia, hypertriglyceridemia and hypofibrinogenemia. A bone marrow aspirate showed increased macrophage activity with haemophagocytosis. His treatment included urgent administration of high dose iV steroids, IV Ig and rituximab, in addition to N-acetylcysteine and Vitamin K however his indices failed to respond, with Bilirubin increasing to 200, and transaminases >2000, and he was transferred to our tertiary centre. He received further doses of rituximab, and subsequently was also given Anakinra. He was commenced on statin and Bezafibrate to augment the hypertriglyceridaemia. Ursodeoxycholic acid was started for the subsequent cholestatic hepatitis.

Method

As his fulminant hepatitis began to settle, his clinical condition acutely deteriorated with acute peritonitis, and plain film imaging showing pneumoperitoneum, confirmed on CT. He proceeded to emergency surgery, where a pinhole gastric perforation was identified, and managed via omental patch, and after 24 hours in ICU, progressed well and returned to the ward.

Results

His family history was notable for 3 maternal uncles, who all passed in early childhood, and for whom a diagnosis of Duncan Syndrome had been postulated. This is an X Linked lymphoproliferative disorder, resulting in severe immune dysfunction, typically triggered by EBV infection, and which can be fatal without early immunosuppression and ultimately a bone marrow transplant.

Conclusions

Our patient has gone on to make a excellent recovery. He is now at home, returning to exercise and school, and is awaiting review in the UK for bone marrow transplant. His underlying condition was confirmed through genetic testing.