Possible porphyria??

I am 26 years old. An RN from my family recently suggested that my ongoing symptoms remind her of porphyria. Here's what's happening:  

--Light sensitivity: Sunlight hurts my eyes. I am very fair skinned and burn even when I wear sunblock. My hands are red and chapped, and sometimes actually crack and bleed. When I am in the sun for a few hours, I tend to feel very drained and exhausted. My mother is also extremely sensitive to light.
--Abnormal periods: I go 30-40 days between periods. My actual period lasts for 24-36 hours, and is accompanied by severe cramps.
--I have unexplainable stomach, leg and back pain.
--I have frequent migraines.
--I frequently feel sick to my stomach, no matter what I have eaten.
--I have frequent bouts of diarrhea and constipation.
--I have excessive fine hair on my face, hands and other areas.
--Tingling in the feet and hands
--I constantly crave food with sugar.
--I have had bad reactions to several medications. I cannot take any penicillin based antibiotic, zithromax, cipro, keflex or ceftin. When I had my tonsils removed, the anesthesiologist tested IV Ceftin before putting me under. I had convulsions and vomited on the table.


I have allergies and asthma which are kept completely under control with Singulair, Zyrtec and albuterol as needed. I have had my tonsils, appendix, umbilical hermia and an infarcted appendix epiploicum removed. I had scarlet fever at age 7 and Rocky Mountain Spotted Fever at age 6, chicken pox at 19 (treated with zovirax to prevent shingles) and mononucleosis and pneumonia in college. I have also been treated for anemia and many ear/throat infections.

Between 1998 and 2000 I have had a huge battery of tests, including EKGs, X-Rays, ultrasounds, bloodwork, urinalysis, etc. They have checked for Crohn's, gallstones, etc. All of the tests have had normal results. My blood pressue is normal--usually 110/70--and I do not have high cholesterol. In 2000 my doctor ordered a number of blood tests to check for Epstein-Barr, Cyclomegavirus, etc.--these came back negative. I do not suffer from depression and lead an active life.

I am uninsured and I do not have the financial means to pay for unnecessary tests. I would like to know if I should actually pursue testing for porphyria. Does it seem likely? If so--does anyone know of a doctor in the New York area that might be willing to see me on a sliding fee scale?

Thank you for any help you can offer.

[Kevin Pho, MD]

Hello - thanks for asking your question.

The incidence of porphyira is approximately 1-2 per 100,000.  The disorder is expressed clinically almost invariably after puberty, and more commonly in women than in men. Abdominal pain, which may be generalized or localized, is the most common symptom and is often the initial sign of an acute attack.  Other gastrointestinal features may include nausea, vomiting, constipation or diarrhea, abdominal distention and ileus. Urinary retention, incontinence, and dysuria are also common, and tachycardia, hypertension, and, less frequently, fever, sweating, restlessness and tremor may be seen. In up to 40 percent of patients, hypertension may become sustained between acute attacks.

Peripheral neuropathy is a common feature of porphyria. Muscle weakness often begins proximally in the legs but may involve the arms or the distal extremities. Motor neuropathy may also involve the cranial nerves, or lead to bulbar paralysis, respiratory impairment, and death. Sensory, patchy neuropathy may also occur.

Psychiatric complaints such as hysteria, anxiety, apathy or depression, phobias, psychosis, organic disorders, agitation, delirium, and altered consciousness, ranging from somnolence to coma are also associated.

Without examining you myself, I cannot comment on the probability of whether you have porphyria.  Diganosis is obtained via urinary tests for porphobilinogen (PBG) and delta-aminolevulinic acid (ALA).  

If you are having constant stomach pain, you may want to consider an upper endoscopy since this can evaluate many diseases that can cause that symptom.  

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.

Thanks,
Kevin, M.D.

Bibliography:
Sassa.  Acute intermittent porphyria.  UptoDate, 2002.

[PAJ]

have you considered a yeast infection as a cause of your symptoms ? You are describing classic symptoms . I regularly give out this info on the forum . Yeast infections are endemic , doctors are in denial about the condition.
The more negative tests the more likely it

[IsabellaD]

Hi,

Thank you for your comment and information.

My doctor has already looked into CFIDS and some of the related illnesses (Cytalomegavirus, fibromyalgia, etc.). I have been experiencing some of the symptoms, such as horrible stomach pains and extreme light sensitivity, since I was 13 or 14. My allergies and ENT infections didn't start acting up for a few years after that.

I looked into buying Mycostatin/Nystatin but it appears to be a precription drug.

I have sought two other doctors' opinions and they both suggested that I be tested for porphyria, and in particular HCP and PCT. I will bring up the yeast issue when I speak to my GP again and see what she thinks.

Thanks,
Isa

[lisa10342]

A related discussion, cyclomega virus was started.