A friend of mine has a been ill for more than two years with an undiagnosed condition, with a bewildering range of symptoms, for which he has been given many different tests. Finally, the doctors have pretty much narrowed down the diagnosis to either multiple sclerosis, or antiphospholipid syndrome.
He just had a liver biopsy. The result was, “increased stainable iron grade 2.”
Is this more consistent with either diagnosis than with the other?
(Yes, I know he should just ask the doctors. But by this point they’ve been wrong so often he no longer trusts them.)
A liver biopsy for someone where the diagnosis may be either MS or APLAS? I’m not sure I understand why it was done. I assume that your friend’s symptoms are neurologic (hence the MS possibility, and presumably APLAS is being considered as a cause of TIAs or strokes and thus neurologic symptoms).
As a rule, MS has essentially nothing abnormal in the blood (in MS, the “chemical” abnormalities, if present at all, tend to be in the cerebrospinal fluid). OTOH, APLAS is associated with lots of things that may manifest as abnormal blood tests, including those suggesting liver involvement.
Back to your question:
Is your friend African-American? (iron may be present in the livers of blacks in the absence of overt and/or serious disease)
Does your friend drink? Heavy drinkers have excess iron in their livers.
In general, many (?any) form of hepatitis (liver inflammation) may lead to some iron accumulation there.
If the iron is grossly overabundant in the liver, then you’re talking about hemochromatosis. But, that would be more than grade 2 staining and would not readily account for neurologic symptoms.
It sounds like they are looking for unusual presentations of already rare diseases. There just isn’t enough information in the post to help you much. With specialists already on the case and a workup in progress a decent reply from the docs here at SDMB would need a lot more background info.
My guess, and it is pure speculation, is that Wilson disease is being considered along with everything else, and the liver biopsy was done for that reason. It’s pretty common in medicine to be looking for one thing and find another. The finding of increased iron stores is another thing to track down but not pathognomonic (diagnostic of anything by itself).
Wilson disease is a rare inherited disease where you have trouble handling copper and you can get oddball neurologic symptoms. A liver biopsy can be helpful if you are missing other pathognomonic features.
Those two illnesses are so different that no differential diagnosis comes down to one or the other of only those two…they may feel that supporting data so far does not definitely rule out either of them. However if those are the two they are considering, they just don’t know what it is. Given that a liver biopsy is not very helpful for either of those two diagnoses, it wouldn’t surprise me if a consultant came along and said, “Let’s just do x procedure to make sure we haven’t overlooked y diagnosis…”
Anyway, if someone does manage to pin a diagnosis down, I’d love a followup and a little data of why a particular illness was specified as the diagnosis. I love to hear about interesting cases and every one teaches me a little more, even if it’s just on this type of casual forum.