Rare Diseases That Are Often Misdiagnosed As LAM

There are a few diseases that are eerily similar to LAM but are not LAM.   I know firsthand some women who were incorrectly diagnosed with several diseases prior to finding out they have LAM. There were other women who were told by doctors intially they had LAM, but did not in fact have it upon further investigation by clinician-researchers of LAM. It was then discovered that they were incorrectly diagnosed with  LAM.  Why blog about this?

Because there are other rare diseases out there that are now getting their proper attention because they are not the rare illness that they first appear to be.  Also anyone who has a rare disease tough as it may become to arrive at it, deserves a proper & correct diagnosis.

Many of us with LAM understand the frustration with being misdiagnosed.  Often sporadic LAM cases (with no history of tuberous sclerosis complex) were misdiagnosed for years as other lung disorders.  This led many women to suffer & be frustrated long before they received the proper diagnosis.

Additionally, a pet peeve of mine that I’ve noticed is errors in medical records reporting. I’ve picked up on instances where the diagnosis code for Lymphangiomatosis was used instead of the diagnosis code for LAM. Or if the medical professional couldn’t spell it they googled or abbreviated it later to the wrong disease.  I’ve never run into an issue from this & found it years after the fact, but I’m waiting for the day to come when it does pose an issue. Plus if I’m doing my best to spoon feed & educate professionals who may not see this often, if ever, the least that can be done is for them to pay attention & get it right.

Sometimes we’re tagged incorrectly by other larger nonprofits looking to raise awareness about rare diseases. This happens innocently enough, but that’s another reason why I am blogging about this topic.  Such an instance led me to an article that was not about LAM but about Lymphangiomatosis (this link was tagged LAM inadvertently by the American Thoracic Society (ATS) in a tweet about their Rare Lung Disease Week.  I am not slamming them for this, they are a wonderful organization who has done so much to raise awareness. I also think it’s awesome they devote a whole week just to making people aware of rare lung diseases.  I am merely pointing out it’s very easy to make a mistake like this, even for scientific organizations).

There are 2 other rare diseases that are commonly mistaken for LAM. Though these two may share some of the same symptoms or cause many of the same issues (like chyle, effusions, lung collapses)  they can affect both children & adults.  Often LAM strikes primarily women in adulthood (though there are a few reported cases in children & a few cases in men).

Lymphangiomatosis is one.  This disease under a microscope looks strikingly similar to LAM and LAM cells, but when researchers further look into it, there are differences.  Lymphangiomatosis may also mimic many symptoms of LAM to add to the confusion.  Thankfully though, those who are finally diagnosed with this illness do have a nonprofit that is researching the disease & providing support to patients. The LGDA can provide further information on this devastating disease.

Langerhans cell histiocytosis (LCH) cells & markings look similar to  LAM on imaging (like CT scans/xrays). Yet again it is not LAM.  This rare disorder is caused by an overproduction of a certain white blood cell. Langerhans cell histiocytosis (LCH) also has a nonprofit organization for support & research.

Tying this back to transplant, in severe cases both of these diseases can lead to organ failure & require transplantation.





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