Case 84 – update 2

So we have the results of our patient’s bone marrow and it looks to be consistent with Gaucher’s disease!

Our patient has a raised serum ACE and ferritin which is typical of Gaucher’s disease.

Our bone marrow shows the typical ‘crushed silk’ appearance of Gaucher’s cells.

Questions:

  • What tests would you do to confirm this?
  • What is Gaucher’s disease?
  • What types of Gaucher’s are there?
  • What type of Gaucher’s disease do we think our patient has?
  • What symptoms and lab findings can be associated with Gaucher’s disease?

Join us on Twitter @TeamHaem and let us know what your thoughts are, what questions you have and what you want to do as we see this case evolve over the next week. Remember to use #teamhaem on all your posts to help us follow the case! Please note – all cases on TeamHaem are entirely fictional to protect patient confidentiality. TeamHaem are not a position of authority. It is an educational platform to allow discussion and learning.

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Online education and discussion about all things haematological
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