My name is Ronald Go, I'm one of the hematologists at Mayo Clinic and I have
clinical and research interests in histiocytosis or histiocytic disorders
including Erdheim-Chester disease Langerhans cell histiocytosis and
Rosai-Dorfman disease. I am Gaurav Goyal, I'm a fellow at Mayo Clinic in
hematology oncology just finishing up my training. My interests are in
histiocytosis and lymphoid malignancies
So Erdheim-Chester disease is a rare blood disorder now it is actually
included in the World Health Organization classification of cancers
as blood cancers but it's a slow-growing type of blood disease which involves
various organs. It can act on any organ system of the body throughout the course
of patients disease
It present with various signs and symptoms as mentioned earlier can affect
multiple organs and the symptoms unfortunately and the signs are not
specific for Erdheim-Chester disease and therefore it is common to be
diagnosed late. It could be as long as seven, eight, or even 10 years after
initial disease presentation. Some of the common presenting signs and symptoms
include the following, diabetes insipidus is one of the signs Erdheim-Chester
disease so this is a condition where in the pituitary gland which is a gland in
the brain that controls secretions of certain hormones. One of the hormones
affected is called vasopressin and this hormone allows our body to retain the
fluid that we drink every day and the lack of this hormone, if it's destroyed
by Erdheim-Chester in the pituitary gland can result in a lot of urination
frequent urination and being thirsty all the time
are initial signs and symptoms of diabetes insipidus. The diabetes
insipidus is especially, it's not a common condition, however it is not
uncommon to have diabetes insipidus presenting five or even more than ten
years before the diagnosis of Erdheim-Chester disease because diabetes
insipidus can be due to other causes as well. Other signs and symptoms would
include bone pains. And it's not really specific usually the pains involve the
legs, the long bones of the legs, could be the arms, not common to be like in the
spine. And because bone pains are commonly due to other conditions it is
not easy. ECD is not one of the initial diagnosis, however imaging studies such
as bone scan can show some signs that would be very suggestive or supportive
of ECD. Skin findings can also be present usually it presents as yellowish
cholesterol patches around the eyes could be in the other areas of the body
as well. Kidney involvement is also common.
Usually patients do not have symptoms but if they do it may be pain in the
back or what we call the flank above the hip areas and that's because the disease
produces a lot of scar tissue wrap around the kidneys. Rarely patients can
present with kidney obstruction. Another sign is neurologic signs or symptoms:
headaches, problems with balance, problem with coordination of the body and this
is due to involvement the disease in the back of the brain we call the cerebellum.
Yeah other organs involved not so not as common would include the heart and so
patients can present with inflammation around the heart, chest pains, fluid
around the heart and also inflammation of the lungs usually fluid around the
lungs and thickening of the covering of the lungs and can patients can present
with shortness of breath. So these are more serious symptoms and signs
unfortunately again they're not specific the Erdheim-Chester disease. Frequently
the doctors will think of the more common diagnosis other than Erdheim-
Chester disease. I think you're pretty much covered all of them
Other hormones can be affected as well
They are nonspecific symptoms. You could have you know fatigue so not all
hormonal changes can be found on a CT scan or such so you know blood tests are
and so forth can help tease them out for the patients with ECD. But like Dr. Go
said, there is no one set of symptoms that we can right away point
toward ECD so it's more the constellation of symptoms and science
together that we that should make someone raise suspicion for the
diagnosis