Please Help! Undiagnosed

[Redsnapper]

I have not had any luck in finding a reason for these sudden and awful symptoms that have shown up in the past 2 years.  I am a 22 year old female who has been healthy and active aside from frequent ear infections and sinus infections as a child.  Someone please help me put this all together!!!!
Symptoms:
vertigo
rashes (some itchy, some just "serpent" shaped and red)
mouth ulcers
joint pain
weakness
weight loss
facial and back scabbing
easy bruising
vision disturbances
night sweats-constant
constant low grade fever
tremors
extreme blood pressure variance (100/60 and then 160/110)
skin sensitivities
flushing
back pain
frequent urination (day aand also nocturia as well)
nausea
sensitivity to light
amonorhea

Findings/Diagnosis so far:
Minimal scattered T2 hyperintensities within the supratentorial white matter (head MRI)
FUO -Findings during several appointments after blood work showed no infection
Vertigo- testing found right beating nystagmus with downward gaze and left beating nystagmus on stationary postional testing
reduced perception to pinprick and temperature in a bilateral stockind distribution
Malabsortion from 48 hour stool sample
Visual disturbance( not sure if optic neuritis or inflammation)
weight loss (115lbs to 92lbs in one year without trying)
Depigmentation of skin on chest and neck
Blood in urine consistently
Livedo changes
stomatitus
irratible skin (overactive histamine production)
premature arthiritis in hips
slight curvature of lumbar spine
low fasting glucose
high lymphocytes
depression
Low RBC
low neutrophils
high MCH
Low bun
GFR decrease in 3 months from 164 to 130
Low C4

Tested for with negative result:
Celiacs Disease (blood and biopsy)
Thyroid disorder
Lupus
rheumatoid arthritis
Lyme disease (only Elisa done)
Stomach ulcer
Spinal tap normal
Chest x-ray normal
Hepatitis A,B,C
Sleep apnea
CT scan of chest, abdomen, and pelvis with and without contrast normal

[Gaburrea]

"The criteria" were not intended to be used to diagnose individual patients.
They were establishing for inclusion in clinical trials.

Patients must meet the following three criteria to be classified as having SLE:
(i) patient must present with four (4) of the following eleven symptoms, (YOU HAVE 8!)
(ii) either simultaneously or serially,
(iii) During a given period of observation.
So, I suggest you to see, either, your primary care doctor or a rheumatologist (again).

[Gaburrea]

Although you have negative lab test for Systemic lupus erythematosus, your clinical manifestations are very suggestive of having it.  (Or a collagen disease at least)

Do you have rash on your cheeks?

The American College of Rheumatology (ACR) established eleven criteria for Dx LES
•  Serositis: Pleuritis or pericarditis
•  Oral ulcers
•  Arthritis: nonerosive arthritis of two or more peripheral joints
•  Photosensitivity (exposure to ultraviolet light causes skin rash, or other symptoms of Lupus flareups)
•  Blood—hematologic disorder—Low C3 / C4
•  Renal disorder:
•  Antinuclear antibody test positive;
•  Immunologic disorder: Positive anti-Smith, anti-ds DNA, antiphospholipid antibody, and/or false positive serological test for syphilis
•  Neurologic disorder:
•  Malar rash (rash on cheeks)
•  Discoid rash (red, scaly patches on skin that cause scarring)

I agree, it is very frustrating seen different “specialists” an none of them have been able to put all it together.

[WorriedMom15]

I Just wanted to say that I feel for you! My 15 year old daughter has many of your symptoms as well and we are hitting roadblocks here also. Each specialist is looking at only their system and not looking at the whole picture. It is so frustrating.
Currently, the most recent finding with her is optic nerve swelling. She has to undergo a spinal tap to check for suspected pseudotumor cerebri but they absolutely do not feel that would cause any of her other symptoms.
Please keep me posted and I can do the same and maybe we can find some answers. She has been ill since August and we are no closer now than when this first started!!!

[Redsnapper]

I have alrady gotten a referral to do the tilt table testing.  No infection shows up in my blood work according to my doctors although my lymphocytes are high.  I have seen a rheumatologist and a neurologist already.  The rheumatologist found the arthritis in my hips and the neurologist has found many of the neurologically related findings.  

I need someone who will look at everything that has been found and actually try to put it together but no one seems willing to do so.

[mike1234567654]

A related discussion, this is for red snapper was started.

[gatorsquirrel]

Reading the above about B12 seems to make sense. I had some of the same problems over 15 years ago - it took them about 3 years to find B12 deficiency. Had to do urine test and it still showed that levels were low and EMG showed nerve conduction  was very bad. Had a great neurologist send me to hematology clinic - been on b12 since, even though it showed in blood, my system could not absorb it. Fixed most of my problems. Lupus was the doctors first guess - was diagnosed with that for 5 years then another doctor said they made a mistake so they don't do anything. B12 helped greatly. Also, any chance your head CT or MRI showed an arachnoid cyst? Hope they find an answer for you.

[memphismommy]

Have you looked into it being a yeast infection????
http://www.truerenewal.com/fungal-infection-symptoms-s/158.htm

I've seen this work for alot of people...I'm willing to look at it myself as I've got some issues that have no answers so far from the 'typical' medical community and all of their testing(s).

God Bless!
Wendy

[SadieSunflower]

You need to order your medical records and make sure that your doctors have checked your methylmalonic acid levels. If that is elevated, then you probably have B12 deficiency. Doctors can also check for B12 levels present in your blood, but the methylmalonic acid level is better. Here is an article about it:

http://www.aafp.org/afp/20030301/979.html

It is very important that you order and review ALL of your medical records. The biggest mistake I made in trying to get a diagnosis, was that I did not do this sooner.

Do your research! Trust your instincts! Also, make sure that you are going to a major academic medical center such as Mayo Clinic, Johns Hopkins, or Cleveland Clinic. The doctors there are very skilled at solving complicated cases.

Goodluck!

[Redsnapper]

They only continue to look into a possible B12 deficiency.  I think it's weird that I take so much and yet still only manage to absorb a small amount. I don't know if I describe it well enough; does that make sense?

[SadieSunflower]

They only look at what when your B12 is really high?

[Redsnapper]

Thank you again.  I have an appointment with a gastro tomorrow so maybe he will have some good ideas.  SadieSunflower - they have tested me for b12 and I did not have it.  I do take trivita supplements and even with those my b12 was still pretty low.  I asked my burse but she said they only look at that when your b12 is really high....? I don't understand.
Thank you again.  I need all the help I can get !

[SadieSunflower]

Have you been tested for vitamin B12 deficiency? I'm shocked if you haven't. That is an obvious thing to look for, especially with a high MCH and absorption problems.

http://en.wikipedia.org/wiki/Vitamin_B12_deficiency

[Gaburrea]

Your welcome!
I know how awful is to be sick and nobody can tell you why, believe me!

Well, you may have either Lupus or  a connective tissue disorder. The fact your mother has it, increases the likeness even more...

Dermatographism is non specific finding and can be seen in many conditions (among them Lupus, collagen  diseases, etc).

I am a family doctor from Colombia (Now I am doing a fellowship in Houston) and I know how frustrating could be seen different “specialists” and no one can tell you what is wrong!

I don't think is dermatomyositis, but certainly is among the differential diagnosis..

Don't give up!
Go and look for either a new rheumatologist or a primary care doctor (any one whom is interested in treating you and no your labs results!!)

www.gabrielurreamd.com

[Redsnapper]

Thank you so much for all of your information! It would be so ironic if in the end it turned out to be lupus for so many reasons.  For starters, that was the very first thing I ever thought it might be (so that was 4 years ago and 100's of disease possibilities ago!) and just last night my mom (who has a connective tissue disorder- with suspicion of lupus) gave me this whole speech about how she thinks my ana is a false negative and I have lupus.  I will have to find a new rheumatologist because I really didn't like mine.  He totally dismissed everyhting I was saying!

Badmama3- I don't have the butterfly rash that I know is associated with Lupus.  Mine are weird and hard to explain but the allergist at the Mayo clinic said he would call them "serpental in shaped" (sp?) because it would pop up randomly, bright red on various parts of my body in a twisty, curvy, snake like pattern.  Does that make any sense? What do you think? The allergist at Mayo diagnosed me dermatographism. I can't take this anymore.  I want to die, but I can't even tell a doctor that because they immediately would discount EVERYTHING I have ever said on some sort of insanity basis, but they don't know how awful it is to be so sick and no one can tell you why!

Please help!!

[badmama3]

Where is your rash located? Lupus has a very distinct pattern and shows is certain parts of the body. There is another auto-immune disease I can think of called dermatomyositis. My son has it.

[Kevin Pho, MD]

You clearly have undergone a comprehensive evaluation, that would exclude many of the major causes for the symptoms.  It would be unlikely that I can come up with something that hasn't been thought of without examination.

The extreme blood pressure variance can be due to autonomic dysfunction, and can be evaluated by a cardiologist referral and tilt table testing.

I agree with the tests for lupus and rheumatoid arthritis - I assume that an ANA was performed.  

Blood cultures can be done to evaluate the low grade fevers, as an occult infection like endocarditis needs to be ruled out.

I would consider a referral to an academic medical center for another opinion.  Seeing a rheumatologist, neurologist, and hematologist (to evaluate the bruising) should all be considered.

This answer is not intended as and does not substitute for medical advice - the information presented is for patient education only. Please see your personal physician for further evaluation of your individual case.

Kevin Pho, M.D.
www.kevinmd.com
www.twitter.com/kevinmd