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Mortal Hepatomegalia


I wanna ask for advice for a 23-years old girl who has hepatomegalia. Her liver is VERY large (as you can see at the photo), so her life is in danger, her weight is less than 40 kg now, she could hardly eat and she has strong stomach ache. No one of our doctors could diagnose the reason.

What could be the reason? There exists some tests results, but I do not have them in English now. Which tests are to be done? Any valuable information are very welcome!

Thanks in advance!
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Avatar universal
Look into Niemann Pick Type B or Gaucher disease if there is also an enlarged spleen.  Niemann Pick Type B is pan ethnic and Gaucher is typically Ashkenazi.  There are a bunch of Ashkenazi diseases related to spleen and liver enlargement.
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Avatar universal
Have they done a liver biopsy? If so, the pathology results may provide additional insight. Also, any US or MRI data that maybe pointing to steatosis, etc?
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317787 tn?1473358451
Hi am so sorry, there are no doctors on here just patients trying to help each other. I tried to look this up.  Are the doctors saying that they don't know what is causing this?  Did they suggest anything to help her?

I found some causes for it.  I hope this is right, when I looked up hepatmegilia it was in Spanish so I think below is the English spelling.

The liver is involved in many of the body's functions. It is affected by many conditions that can cause hepatomegaly, including:

    Alcohol use
    Cancer metastases (spread of cancer to the liver)
    Congestive heart failure
    Glycogen storage disease
    Hepatitis A
    Hepatitis B
    Hepatitis C
    Hepatocellular carcinoma
    Hereditary fructose intolerance
    Infectious mononucleosis
    Niemann-Pick disease
    Primary biliary cirrhosis
    Reye syndrome
    Sclerosing cholangitis
    Steatosis (fat in the liver from metabolic problems such as diabetes, obesity, and high triglycerides, also called nonalcoholic steatohepatitis, or NASH)
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Avatar universal
P.S. Liver functions normally, size is the only problem.
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