How to visualize internal sarcoids/granulomas?

[mrs_r]

I selected "swallowing" from the topic list, however my problems are much more extensive.

More than seven years ago, I was a healthy weight, and was jogging a five-mile route every other day (and doing weight-lifting on the days in between). Then, I suddenly developed a constant low-grade fever, sweating and night sweats. I also developed pain in the area of my liver. It was absolutely debilitating.

Since then, I have developed problems with every organ system in my body.

Internally, I have an enlarged liver and spleen, with the liver extremely tender to palpation, and somewhat fatty. I have gallbladder enlargement (but no sludge or stones). I have bulky, smelly stools, which very often becomes diarrhea for days at a time, so I suspect that either the pancreas or the intestines are involved in this disease process. I had a colonoscopy with biopsy many years ago that identified lymphocytic colitis. I have a terrible difficulty swallowing; sometimes even liquids won't go down. I had kidney stones in *both* kidneys. About six months ago I developed a persistent, productive cough. I also have tachycardia (now on Bystolic), and suspect some type of heart involvement.

I had several blood counts that came back abnormal. One had "atypical reactive lymphocytes". Others have had high eosinophil counts and/or too-small red blood cells.

But the problems don't end with the abdominal and thoracic organs. I have skin rashes and psoriasis. I have thickened skin on the tops of my toes, the soles of my feet, and on my elbows. Something is affecting my nerves, causing tremors, myoclonic jerks and dizziness. I can barely move the muscles in my lower legs and feet now without getting charlie horses. My lymph nodes inside my parotid glands have been swollen for several years (I look as though I have the mumps). I have developed arthritic problems in my joints and my spine, and also tendonitis. I have had constant swelling in my feet and ankles, which was identified by a vascular specialist as being lymphatic in origin (lymphedema). He said that he suspected some type of lymphatic blockage. I also have a large area of lymphedema above my left clavicle.

I have dry eye, with constant tearing, and had a granuloma on my left eyelid. I had growths all over my lower legs. Over the years, a zillion of these popped out. My family doctor did a biopsy of one of the growths, and it came back as a granuloma, "mid dermal and deep." Some of them resemble something called erythema nodosum. The pathologist listed several things as possible causes: 1) drug reaction (I have ruled this out because I'm on a totally different set of drugs than I was when this all started); 2) connective tissue disorder, such as rheumatoid arthritis (we tested for R.A. early on and ruled it out); and 3) mycosis fungoides (another name for cutaneous T-cell lymphoma (interesting because both my parents had lymphoma, and also because of my multiple problems involving lymphedema and lymphocytic infections). The pathologist added, "Correlate with clinical findings."

After all of this, believe it or not, I still don't have a diagnosis! The problem is that I don't fit well enough into any one specific disease or category. I had a CT scan just recently which showed enlarged organs, but nothing else.

Then yesterday, I came across a discussion in one of these MedHelp forums when I did a Google search for "things that don't show up on CT scans." Several of the members were discussing sarcoidism, and the multiple granulomas that it causes. I started reading about sarcoidism online (in reputable places, such as the NIH's medical encyclopedia), and thought that there was a strong fit with what's going on with me. Apparently the internal granulomas do not necessarily show up on scans, but they do cause lots of adhesions, pain, etc. There was an imaging page that indicated that a small percentage of people have them in the kidneys (stones), the colon, the joints (arthralgia). Granulomas were defined by the NIH as clumps of immune cells. (And by the way, my immune system has not been normal either.)

I just *know* that these growths are there internally. I have *so* many of them externally that the probability is high for them to be growing on my internal organs.

I am very frustrated because I have been extremely ill for seven years with this granuloma-producing disease, but I still have no diagnosis! Many people treat me as though I am just some chronic complainer, but if they had so many problems with so many organ systems, I guarantee that they would not be very happy about it either. I feel that this disease is killing me very slowly. It is making my life painful and unbearable. The extrenal granulomas are also disfiguring.

So, my questions are: Is there any way to get internal granulomas to show up on some kind of scan? (Or are they sometimes there on scans, but hard to see, and therefore missed by some radiologists?) Is there any kind of treatment we could try to make the granulomas go away? (One medical professional that I know, who was getting them on his legs just like me, said that he was on Enbrel for a while, and stopped forming new ones while he was on that drug, but had to stop due to the high cost.) And finally, on the page where sarcoids/granulomas were being discussed, the medical person who answered the question stated that approximately 20-40 percent of them are malignant. I feel that these growths are occurring more quickly now than they once were, and that I'm having more systemic problems (recurring infections, etc.). Yet nobody seems at all concerned. Every specialist I have seen simply adds another drug to "patch" the sign or symptom, but still no diagnosis and no cure!

A simple search on Google shows that there are something like 30 million people out there who have chronic disease, but can't get a diagnosis. If you can point me in the right direction, I'm sure that you will be helping countless other people as well.

[mammo]

I think you're correct in MRI's being more precise.  I believe you would benefit greatly from seeing a geneticist, and I definitely feel it's genetic in nature.  Not only can a geneticist help with recommending treatments, they give you so much information so you know what doctors to see, and what questions to ask.  Keep looking, I know you must be miserable, and I pray you get some answers quickly.

[mrs_r]

Thank you for your suggestion of seeing the genetic specialist. You know, I had thought about doing that a couple weeks ago, but had temporarily forgotten. Thank you for reminding me. I had been watching Charlie Rose on PBS, who was interviewing James Watson (of Watson & Crick, the discoverers of DNA), and Dr. Watson mentioned that it's now possible to have one's entire genome mapped out, and then compared with that of various genetic diseases, and I immediately about the implications of that for my situation. I know that my parents had lymphatic problems and auto-immune-type problems, so it may be that this is something genetic.

To answer your question about seeing an endocrinologist---yes, you guessed it. I've seen one. I have been tested for so many of the most common things. An internal medicine specialist said, "Well, I think we've finished looking for horses. Now, we're looking for zebras." I have been tested for some rare things, such as psittacosis, cat scratch fever (having been around parrots and cats), pheochromocytoma, carcinoid syndrome, and a zillion other things.

I think that the pathologist's report about the granulomas, combined with the vascular specialist's finding of lymphedema, and another CBC report I once had, which indicated immature granulocytes and rare reactive lymphocytes, are all pointing toward this being something of lymphatic origin. Maybe a genetic specialist could help throw a light on that...

...But in the meantime, I'm wondering whether an abdominal MRI would be able to image granulomas better than CT scans. According to this page:

http://www.listen-up.org/med/ct_mri.htm

it's better at imaging soft tissues than CT scans (which are better at imaging bones). Because the granulomas on my legs feel different from the surrounding tissue, I would think that the same would be true internally. The trick will be in convincing an insurance company that this should be done. I feel that it is only a matter of time before one of these starts to grow in some vital place.

[mammo]

Have you been seen by an Endocrinologist?  You probably have, but if not I would see one.  The endocrine system is vital to every organ in the body, and all of yours are affected.

[mammo]

Your story just breaks my heart.  I've been doing a lot of research, and can't find any more than you.  However, we have a rare condition in our family and found help thru the link below.  We also found that a geneticist is most knowledgeable when it comes to rare, hereditary diseases.  You truly need to meet with one so that they can do your pedigree and start aimimg you in the right direction.  We saw so many doctors with my children, but it was the geneticists that finally got the answers for us.

http://www.rarediseases.org/rare_disease_day/rare_disease_day_partners