BMJ Case Reports 2013; doi:10.1136/bcr-2012-008185

An ACE diagnosis

  1. Anindya Gupta
  1. Department of Rheumatology, Nottingham University Hospitals NHS Trust—Queen's Medical Centre, Nottingham, UK
  1. Correspondence to Dr Omar Nasher, omar.nasher{at}


Gaucher's disease is not commonly considered in the differential diagnosis of adult patients with hepatosplenomegaly and increased serum ACE. A 19-year-old girl presented with recurrent epigastric and left hypochondrial pain over a period of 9 years, associated with episodes of nausea and diarrhoea. She was extensively investigated and found to have splenomegaly and raised serum ACE. A screen for haematological disorders was negative. She reported an insect bite during an overseas holiday preceding her symptoms. She was therefore also screened for infectious causes of hepatosplenomegaly but without success. Later on in life, she reported joint pain and discomfort. Sarcoidosis was thought to be the putative cause on more than one occasion. However, the presence of splenomegaly and her relatively young age, led the rheumatologist to the correct diagnosis.

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