A frustrated reader opens up her life looking for answers about what she thinks is an undiagnosed chronic medical condition.
I have had a chronic medical condition for almost a year now. My symptoms include fatigue, abdominal pain, headaches, nausea (mostly pain related), and reoccurring flu. I have had various blood tests, urine, stool, etc. Only two have turned up positive: an endoscopy showed inflammation (the medication they gave helped with that, but the cause is still unknown) and an x-ray showed malabsorption in my small intestine (negative for Celiac and gluten sensitivity).
Whatever this is has cost my job, my insurance, and a year of my life. My home and my sanity are soon to follow. I am now on the county's (in Houston) insurance plan, which takes months to get a first visit, while taking hours to kick me out of the ER and clinics with no help. I don't know what to do next and my condition is getting worse. Please help.
Sincerely,
Let me just say, for the record, I'm not your doctor and anything I write here or any responses by readers is to be considered for entertainment purposes only and not as medical advice as no physician relationship has been established.
Here's my list of studies I would consider, if not already done for someone with this chronic/progress type presentation.
1) ANA to screen for autoimmune disease
2) Iron studies to screen for iron deficiency
3) Cosyntropin stimulation test to screen for adrenal insufficiency which most commonly is an idiopathic condition (nobody knows the cause). This is the top of my differential diagnosis for anyone with nonspecific complaints such as fatigue, abdominal pain and nausea.
4) B12 level to screen for deficiency.
5) Inflammatory markers (CRP and sed rate (ESR)). When these are low, I am comforted as a physician for the patient.
6) Heavy metal poisoning. Arsenic, lead. This can be done in urine or serum. Is someone trying to kill you? Do you drink well water?
7) Porphyria. This is more specific testing for chronic unexplained abdominal pain. It has a laboratory panel.
8) Carcinoid syndrome/tumor can do funny stuff. Screen for metabolites
9) Hepatitis screening for Hepatitis B and C. These can sometimes do funny stuff clinically.
10) Thyroid studies
11) CPK levels to look for muscle damage.
12) Of course the basic panels: CBC and electrolytes/renal function.
13) Carbon monoxide poisoning. I think this is mandatory that you check both your blood and for your home for possible toxicity.
14) Whipples disease caused by a bacteria. I doubt, but possible?
15) LDH (lactate dehydrogenase) to screen for lymphoma.
16) Serum Protein Electrophoresis to screen for monoclonal gammopathies ( such as multiple myleoma)
17) Urinalysis looking for red cells or more importantly the spilling of protein.
18) CT scan of chest/abdomen/pelvis screening for tumors/ enlarged lymph nodes.
21) Consider MRI pituitary gland to check for pituitary adenoma if screening hormones are abnormal.
19) Bone marrow biopsy if any of the blood counts are abnormal.
20) Endometriosis? Perhaps a laporoscopic surgical evaluation of the abdomen is in order.
I'd be curious on what the endoscopic biopsy showed. Eosinophils? Gastritis?
Plus I've never heard of an xray that can show malabsorption. I don't have any idea what this test is.
Do the readers have any other suggestions in the differential diagnosis of this type of persistent undiagnosed condition?
I’ll bite.
ReplyDeleteYour tests…
Stool sample would rule out most parasites (have you traveled to any other countries in the past two years?)
“Various Blood tests” means nothing.. Need more specs
X-ray malabsorption (?) Means nothing.. CYA medicine
Inflammation of colon = probably a systematic response to stress, means nothing if it responds to treatment.
Questions.
Age?
General health?
Family History?
Medications?
Any derm issues (dry skin, rash, chipped nails, hair etc)?
Define “Abdominal pain” Location, quality etc’?
Differential Diag’
1. Porphyria (abdominal pain), microcytic anemia (heme issue)
2. ANA (SLE, other autoimmune)
3. Thyroid
4. Vitamin def’ (megaloblastic anemia, b12/folic acid)
5. Cancer/ tumor (endocrine related responses = hypothalamus, pituitary etc’)
6. MS/GBS (long shot)
7. Parasitic infection.
8. Heavy metal/CO poisoning (super long shot)
Jeez, you really ARE an Internist, aren't you...Lots of fancy non specific tests that won't do anything but deplete your patients wallet...
ReplyDeletebut if you're gonna do some tests, you left out 2 that might actually be useful,
1: Drug Screen
2: HIV
Its that old "Common Things are Common" theory...
What about a Pneumoencephalogram???
Frank, M.D.
Houston has excellent medical facilities.
ReplyDeleteMy guess is that if the reader is truly at wit's end, most of this stuff has already been done.
Also, nobody mentioned possibilty of functional disease, ie chronic pain syndromes,migraines,IBS,CFS, Fibromyalgia variant, etc
I'm forced to wonder about inflammatory bowel disease or perhaps an infiltrative diease like amyloid (lymphoma, leukemia much more likely though).
ReplyDeleteI have no idea what the labs, physical exam and previous workup show (Showed?). I'd be most interested in serial weight - if the pt is malbasorbing, what is the weight now and what was it 1 month, 2 months, 3 months ago?
Issues sound either psychiatric (?factitious disease?) or that whoever pt saw before was a quack ("wellness expert" ND, multiple chemical sensitivity expert or other nut).
If I get one quesiton - how many allergies does the pt have? I bet it's over 10!
Lots of good teaching hospitals in Houston - if she can't get admitted then her labs are not impressive; I bet there is nothing but subjective issues here.
Description of PQRST would be helpful as would a transvag sonogram if you were to go that direction. Manual pelvic exam done by endo specialist... you'd be surprised at how many docs don't know what they are rooting around for in there! If lap, that done by endo specialist. Again, you'd be surprised at how many docs don't know what they are rooting around for in there...
ReplyDelete-Second career nursing student
Lets put these into perspective here. Here is a middle-aged (I suppose) lady with the following symptoms.
ReplyDelete1. Fatigue (chronic by description)
2. Headaches (type?)
3. Abdominal pain and nausea (resolved w/ PPIs)
4. Malabsorbtion (on x-ray)
How about a depression screen and a short, maybe two month trial with an SSRI before embarking on a million dollar work-up?
Her symptoms are highly suggestive of chronic fatigue, depression, and possibly somatization.
And you really can't definitively diagnose malabsorbtion with an x-ray. Let's find out if she really has malabsorbtion with a simple D-xylose test.
Good One, Mehmet, when the SSRI makes her suicidal she won't come back...
ReplyDeleteDrackman's Rules of Medicine #42...
NEVER NEVER NEVER NEVER NEVER NEVER NEVER (infinity) let your name be within 2000 miles of a prescription for a medication with a "Black Box Warning"...and I know they're bogus, but I don't like giving all my stuff to malpractice lawyers...
and Yeah, my daughters are on Depo-Provera...
ReplyDeleteI didn't sign the Rx...
When i got a patient than im pretty sure (he or she) is hyperventilating I try to rule out as much as i can potential ilness with medical examination and assessment.
ReplyDeleteIts not crazy at all to think on pretty weird disease, if anyone have read the DSM IV, you now that in order to make a diagnose on mental ilnesses you need to rule out organic causes first.
If this lady was depressed any doctor would have noticed it first, nowadays there are excelent medications for depresion. this is not a first consult patient, the patient seems to have gone trough several doctors, when a patient goes trough several docs its most likely an odd disease or a common disease with an uncomon presentation.
that was a hell of a differential. scary.
ReplyDeleteIgGAM, pneumovax pre&post titers, C4
ReplyDeleteIs this poor woman reading these responses?
ReplyDeleteinflammation, malabsorption, fatigue, abdominal pain, nausea...should follow up with Methodist GI doc at the medical center downtown Houston. (the top rated GI department in the area). These guys see wierd cases of bizarre diseases every day as well as atypical presentations of inflammatory bowel disease.
ReplyDeleteWell although you might be right... I'd sure hope that I had a good relationship with my PCP (which is harder because of insurance these days) so that if I ever presented with these symptoms over time, there would be some chance that I might avoid being seen as nutty if I'm just not on my game... as I recall a friend wished she had, when she perfed and became septic years back. She had asked me months later, about to lose her job because she just couldn't keep up with the rigors of it, (still weak) if she should sue. I said yes :o)
ReplyDelete-Second career nursing student
he is right he doesnt have a HX or PE, so he cant limit the differencial with the current data, despite of the fact a non organic cause is seen more frecuently, we still dont know the onset of symptons, not even the cronology of them or the number of doctors she went. So the assumption that is a non organic cause exclusively denotes ignorance, the contrary is also. we dont even know if the info is accurrate, patient tends to mistake the data from exam.
ReplyDeleteYou'd think if she REALLY had malabsorption, she wouldn't be kicked out of a ton of clinics/ERs; she'd have electrolyte imbalances to correct.
ReplyDeleteif she is unisured yes.... the greed of capitalism. haha
I'm guessing the XR was something like a GI series/small bowel follow-through and had nothing to do w/actual malabsorption per se.
Agreed.
is she nuts? or the doctors are dumb enough to skip diagnoses?, I have seen both.
Nice. Make everyone and everything that frustrates you or you can't figure out a BPD.
ReplyDeleteAlexy
ReplyDeletei think you have a huge amount to read up on in Psychiatry...you obviously know very little about it. Who are you, any way??? You certianly seem to enjoy bunching people together and neatly labeling them to suit your own needs. You are being very hurtful, whether you realize it or not.
i think you have a huge amount to read up on in Psychiatry...you obviously know very little about it.
ReplyDeleteyou seem to know a lot... and you dont even know me.
Im not labeling anyone, i dont enjoy it.you are right i need to apologize for being harsh.
i dont understand your concern about me, there are some many jackasss comments above. you didnt bother to mention.
I don't see error in Alexys comments/corrections in relation to psych. Pretty simple 101. Everybody knows the knee-jerk reaction of a poor physician is to say that the patient is "nuts" when he/she cannot Dx. The physicians that can bring themselves to say, "I don't know what it is" and "lets go another direction" before we "bail-out" are the ones I tend to trust and take the time to listen to - I can learn from these.
ReplyDelete-Second career nursing student
being nuts is an abreviation for Psychiatry diseases, very inapropiate and harsh, but it doenst mean you got nothing. there is always a diagnose.
ReplyDeleteyou got cancer people feel depressed and deny it, even get angry.
you told someone he got physch patology, they usually feel offended, because you are telling then they got nothing,
Psychiatry patology is as important as every other field, it has treatments too and diagnoses too.
PD: im not an english speaker so its easy to find harsh some of my comments.
Understood, not knocking psych Dx, and its prevalance as comorbidity even. I just don't like how common it is emphasized as reason to dismiss.
ReplyDelete-Second career nursing student
She has hysteria and needs a hysterectomy.
ReplyDeleteJust kidding - so glad times have changed.
Like a previous poster wrote, inflammatory bowel disease, e.g., Crohns disease. too little information, too little time. Does she have diarrhea? It could be anything based on her info.
ReplyDeleteAs others have suggested, it could be Crohns disease. Unfortunately, due to the general nature of the complaints, it's hard not to want more data (i.e. extensive testing), but I think there is still information that can be gleaned inexpensively (and without waiting months for that first visit). Above, a possible vitamin deficit was suggested "4. Vitamin def’ (megaloblastic anemia, b12/folic acid)", and I'd also like to suggest a possible magnesium deficiency, which is another possible effect of malabsorption. Alcoholics are particularly at risk of B12, folate, and magnesium deficiency, as unfortunately are people who, in despair over their medical problems, use alcohol to "self-treat". (Poorly controlled diabetes is another culprit in such deficiencies.) Since 1) it's not terribly hard or expensive to eat foods rich in these essential nutrients (i.e. fortified breakfast cereals, yogurt, etc.), and 2) implementation can be begun near immediately, and 3) this is unlikely to cause any harm, I would suggest increasing intake of B12, folic acid, and magnesium and seeing if symptoms decrease. This would not rule out an underlying disease, but it certainly would be a useful data point to have--and eating more healthful foods and avoiding excessive drinking would be beneficial anyway.
ReplyDeleteDon't know if anyone has said it yet, but malabsorption on an x-ray probably means the patient had some sort of barium study (such as a small bowel follow through) and the test showed early break up of the barium column due to an abnormal amount of fluid in the small intestine. (The abnormal fluid present because of "malabsorption".) It's actually a very legitimate radiologic diagnosis.
ReplyDeleteWow, that sure is a lot of commentary about me and my situation. For the record, my name is Lilia. I am 32 years old. I am a real person with a condition that is very real to me and my family.
ReplyDeleteAlthough I knew some responses would tell me that I couldn’t be diagnosed by blog and in the same breath call me crazy, my hope was to have someone say “you know, a patient, friend, etc. of mine had something like this and a "blank" test helped them out.”
To that end, I have posted additional information on tests below:
The exact wording of the malabsorption diagnosis was from a UGI Air Contrast w/small bowel that reads “shortened transition in the small bowel suggestive of malabsorption.”
My electrolytes and Vitamin D consistently place either at the low mark or just underneath it. For example, my last two Vitamin D numbers were 24 and 29.6.
Another number that has twice tested off is my albumin, which comes in high.
The inflammation and hiatal hernia were also confirmed.
Tests that have come up negative include a small bowel biopsy, food allergies, hepatitis, HIV, something called a US - Abdomen complete, a Nuc Med-Gastric Empty Solid, Abdominal CT scans, a recent colonoscopy, and multiple blood tests with the exception of the above.
My history is:
No major family medical issues.
No drinking from a well.
No traveling outside U.S. in last three years.
No health problems prior to this.
Regular exercise and healthy diet before this.
No recreational or chronic drug use.
I live alone with no pets.
I have been taking a multi-vitamin everyday of my life for years.
I know I have taken awhile to repost, so HH if you feel up to it or think it would do me any good: please repost and thanks to everyone for their help.