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possible diagnosis
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possible diagnosis

I have been suffering from various non specific symptoms for long time but no definite diagnosis has been made in the context of global picture of symptoms and abnormal lab findings. They are as follows:
Positive ANA with speckled and nucleolar pattern
Positive atypical P-ANCA
Elevated Kappa light chain
erratic blood level of triglycerides from normal to slightly elevated to very high. (no medications)
Chornic skin rash on the side of neck and at the base of head and neck for almost seven years. No treatment has cured it.
Skin biopsy showed acanthotic psoriasiform dermatitis, infiltration of leukocytes looking like lichenified ezema
Difficulty with thermoregulation and severe anhidrosis, hyper-keratinization
severe damage of Post ganglionic sudomotor sympathetic fibers  causing autonomic neuropathy diagnosis of sjogren.
no diabetes
severe insomnia
fleeting pains and aches, inflammatory arthralgia
mucosal lesion which are very painful in mouth and vagina
above problems occurred after uterine fibroids were removed and blood transfusion was received
After blood transfusion, positive for CMV and EBV (only one partner)
short sun exposoure causes unexplained severe fatigue, permanent pigmentation rash and swelling of feet and hands without pitting edema.
QSART test positive for unmyelinated post ganglionic fibers damage
unexplained fever
rapid transition on barium swallow test to rectum in only 15 min instead of an hour.
Severe blurred vision off . Slit lamp exam confirmed punctate cornea. Cyst formation tendency. ganglionic cyst removed. ovaries have some mass or cyst or dermoid cyst
rapid loss of hair, testosterone very low
niacin abnormal.unexplained sweating on face and neck only at night even when it is a freezing temperature.
trigger fingers,
ppd test positive
rare side effects to medications like INH, phenothiazine group, benadryl. demrol, metronidazole and niacin. My research showed all these chemicals have a common thread of having aromatic ring with N and their metabolism is through hepatic Cytochrome P450. Rare side effects experienced were blurred vision, dizziness, loss of appetite; oral dystonia invloving tongue; paradoxical effect, insomnia; its metabolites related symptoms (due to is prolonged half life); dizziness; severe hypotension (blood pressure dropped to 80) and developed rash on arms.
Severe hypoglycemia in the middle of night, causing palpitation, hunger pangs and urge to eat food like banana

Question for : paraneoplastic pemphigus, carcinoid, lymphoma, insulinoma, autoimmune hepatitis, pancreatitis, systemic lupus or mixed connective tissue disorder, autoimmune autonomic ganglionopathy, polycystic ovarian disease, or any cause due to underlying infections.

Precipitating factors: Emotional and psychological distress caused by victimization multiple times; blood transfusion and post hysterectomy. No family history, no social history no smoking no drinking. No other coexisting medical conditions.
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Avatar_f_tn
Wow, this must be overwhelming! From my own experience, I can only add a couple of ideas, places to go to to maybe get help.

First, I would start on D3 right away while you are still searching for help. I would guess you are deficient in D3 as they say 1 out of 2 people are deficient. You have problems with the sun, so you need to supplement. Costco, Walmart etc has D3 that is cheap and easy to take. Start at 5,000 IU a day and see if after a month it is helping. It does take time to build up in the body.
I personally take 10,000 IU a day and my blood work shows a 57.

Go to www.vitamindcouncil.org for lots more info on D3 and the role it plays in the body. The info is amazing.
They suggest a blood level of between 50 and 70 mg to be in good health. Not the 20 mg that is currently considered "normal"

Also I would try the web-site of the IDF the immune deficiency foundation. Their site is www.primaryimmune.org They can suggest an immunologist in your area and they have several publications that are free and helpful. You can access them on the web or they will mail for free.
The have a lot of info there too! They do say there are 150 different known types of immune deficiency and they have lots of helpful people too.
They have a diagnostic book that can recommend testing for you and your doc to try to rule out or verify an immune deficiency.

Lots of other people on this site also have great ideas.
Hang in there, keep searching.
elbamom
5 Comments Post a Comment
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Avatar_f_tn
Wow, this must be overwhelming! From my own experience, I can only add a couple of ideas, places to go to to maybe get help.

First, I would start on D3 right away while you are still searching for help. I would guess you are deficient in D3 as they say 1 out of 2 people are deficient. You have problems with the sun, so you need to supplement. Costco, Walmart etc has D3 that is cheap and easy to take. Start at 5,000 IU a day and see if after a month it is helping. It does take time to build up in the body.
I personally take 10,000 IU a day and my blood work shows a 57.

Go to www.vitamindcouncil.org for lots more info on D3 and the role it plays in the body. The info is amazing.
They suggest a blood level of between 50 and 70 mg to be in good health. Not the 20 mg that is currently considered "normal"

Also I would try the web-site of the IDF the immune deficiency foundation. Their site is www.primaryimmune.org They can suggest an immunologist in your area and they have several publications that are free and helpful. You can access them on the web or they will mail for free.
The have a lot of info there too! They do say there are 150 different known types of immune deficiency and they have lots of helpful people too.
They have a diagnostic book that can recommend testing for you and your doc to try to rule out or verify an immune deficiency.

Lots of other people on this site also have great ideas.
Hang in there, keep searching.
elbamom
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1530171_tn?1418143903
Hey Lasie74, welcome to the forum.

  In light of your research regarding CYP450 and metabolism of  INH, phenothiazine group, benadryl. demrol, metronidazole, niacin and more:

A mild Cytochrome P450 oxidoreductase deficiency, may never get diagnosed, as the symptoms can be so varied, non significant and not exclusive to be connected to this, and unfortunately mimicking a plethora of other conditions.

  The POR gene provides instructions for making the enzyme cytochrome P450 oxidoreductase and there 50 different mutations discovered that change a single aminoacid, which in turn causes enzymatic CYP450 impairment, affecting hormonal production , synthesis & metabolism of substances/molecules/chemicals and possibly causing  other complications in any organ or system.

This is something you may consider to have ruled out.
As you have probably realized, this area of investigation is
very complex, costly and likely frustrating due to the lack of answers.

If you need some references, you can access it for free at the
U.S National Library of Medicine.

I would suggest that you look also into locating a good geneticist.
You could also benefit form visiting the Rare Genomics Institute website,
  to look into the possibility of obtaining a genetic sequence of your  condition.

The blood transfusion you had is also suspect.
Did you discuss/report all the effects following the transfusion, with
the Hematologist and your treating doctor? Any explanation or further investigation regarding this?
Unfortunately, there's always the possibility of infectious pathogens being transmitted by blood transfusion, or other types of complications.

Hope this helps. And keep us posted.
Niko

  
      
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Avatar_m_tn
Thank you for your prompt response. I appreciate for suggesting some useful information,

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Avatar_m_tn
Do you know if there is any genetic test available for confirming any abnormality with n acetyl transferase enzyme casuing people to become slow acetylators in metabolizing certain medications? If so , please provide me the information for testing center, Thank you.
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1530171_tn?1418143903
Hi Lazie.

NAT2 and  NAT1 (of lesser relevance) and are the genes you may want to look into.
For more information on these genes-if you are a health professional/genetic researcher/ biochemist etc. you can go to the
OMIM--Online Mendelian Inheritance in Man- website.
The article ref.# 243400 and is titled:
ACETYLATION, SLOW

For testing, you can do a fast search in the National Centre for Biotechnology Info (NCBI) website -under "Gene Tests"
for a clinic in your  area.
They provide a listing of all the Clinics by Country, State (if in the U.S.A.) and by Type of Service.
Hope this helps.
Cheers!
Niko

















  
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