Porphyria?

[curedmaybe]

Hi,I'm a 43 year old woman with
1985 Stabbed in head in right temple/6" drain got blood poisoning because ER never gave me any antibiotics, no brain damage or anything
1987 pos TB
1993 severe hypo/hyperpigment, high ALTs, alopecia, high ANA, malar rash, neg lupus,dx polyendo dysfuntion, scoliosis, DJJ, single encapsulated tubercule, dx HCV (dx?pos surface ant/RIBA inconcl, bx no inflammation,damage to portal triads, fat, no PCR done)
1994 Intron A tx PCR neg after tx, horrible side effects, Tubercule gone
1998 pco hysterectomy, left sialedectomy and lymph nodes/benign hyperplasia, RLL pneumonia severe, COPD/chronic bronchitis, 4 shattered molars when biting down other teeth broken, chronic hypoxemia
2002 meningitis
2003 mild atrophy of heart and tricuspid valve insufficiency, mild diffuse atrophy of the brain
2004 cervical fusion plate, foramenotomy, deg disk stenosis spondyl throughout spine
2005 diverticulosis, adenoma  colon, gi bleeding, IBS,Metabolic Syndrome/Severe Steatosis/NASH tx glucophage
2006 dx/tx hashis hypothyroid,sjogrens
2007 inflamed lacrimal glands/eyes (gallium), bloody spot in duodenum, trigonitis
Family hx: fatty liver in everyone on P. grandma side, all have diabetes, autoimmune, endo complications, test false positive for surface antigen for HCV, neg or inconclusive RIBA, neg PCR.

I get chills, big lumps on my temples that take month to go away often, pit and scar. My hairline is growing into my eyebrows where bumps are. I get headaches, dizziness, loss of mental capacity that persists. No dark urine on plaquenil ( 200 bid).  BP 118/80 usually, basal temp 95-96, temp 96-7 during the day, I get low fevers, have to use heating pad to stay warm, sun sensitivity w/o blistering rash,sensitive to CYP3A4 type drugs esp. SOMA and toradol.Others with porphyria say I get tested. Should I  see hematologist to test for porphyria or similar disease?

[curedmaybe]

Thanks.  My primary care physician is unconcerned and feels the condition is too rare for me to have, yet doesn't know why I am having the current problem. She says there are too many wierd syndromes and rare diseases for any doctor to keep up with. My hepatologist also says I can't possibly have it because it is rare. I plan to see if Mayo may take in me in the liver transplant dept for at least a review and better dx, given all the complications and my continuing poor health and unexplained symptoms.  I would like to know is porphyria is something dangerous, something that it is of benefit for my doctors to know if I have and whether it would make a difference in my treatment?

[Kevin Pho, MD]

It is difficult to say without evaluation.

If prophyria is suspected, the testing is done via a 24-hr urine sample.

Urinary ALA, PBG, and porphyrin concentrations are normally obtained.  

If the disease continues to be suspected, further testing can be done with an erythrocyte enzyme assay.

If the symptoms continue, you can consider a referral to a hematologist to discuss these tests.

These options can be discussed with your personal physician.

Followup with your personal physician is essential.

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, M.D.
www.kevinmd.com