Hi Cher - I dragged out my Merck Manual for med professionals - it's 5 years old so not cutting edge. But I learned some things. Porphyria occurrence = 1/10,000, supposedly. (I think these "rare" numbers are often cited because diseases go undiagnosed, so it may be more common.)
Google "heme" for some information on protein molecules (like hemoglobin) which have iron included. There is one article under (no w's) themedicalbiochemistrypage(dot)org which looks good, if you know some chemistry. I am NOT a doctor, and it's been long time since I was in class, but here goes...
There are 8 different enzymes involved in the synthesis of heme, and they produce and transform molecules called porphyrins; there are 7 types of porphyria, tied to 7 enzymes (problems with the 8th enzyme causes sideroblastic anemia). Urine screening is the best test to start with. You can then get genetic testing to confirm the diagnosis.
Symptoms can range from mild to severe and can wax and wane.
One type of porphyria (cutaneous), the result of 2 possible malfunctioning enzymes, mainly affects the skin (fragile skin and blistering, sun sensitivity). This tends to be chronic.
The second type of porphyria (acute), caused by a problem in one of the other 5 enzymes, is called neurovisceral, and can be set off by any number of drugs, physical or emotional stress, alcohol, hormonal changes or low-carb or fasting diets. Here is what the Merck Manual says - signs and symptoms: "…involve the nervous system, abdomen OR both…. Attacks develop over hours or days and last up to several weeks. Some gene carriers experience few attacks in their lifetime. Others experience recurrent symptoms. In women, attacks often coincide with phases of the menstrual cycle."
Also, From the Merck Manual of Diagnosis and Therapy, 18th Ed., 2006, pp.1227-1228, The caps are my added emphasis for fibro patients to note!
"The acute porphyric attack: Constipation, fatigue, irritability, and insomnia typically precede an acute attack. The most common symptoms with the attack are abdominal pain and vomiting. The pain may be excruciating and is disproportionate to abdominal tenderness. Abdominal manifestations may result from effects of visceral nerves or from local vasoconstrictive ischemia…there is no inflammation…Temperature and WBC count are normal or slightly increased. Bowel distention may develop…. The urine is red or reddish brown and positive for PBG during an attack.
"ALL COMPONENTS OF THE PERIPHERAL AND CENTRAL NERVOUS SYSTEMS MAY BE INVOLVED. MOTOR NEUROPATHY IS COMMON WITH SEVERE AND PROLONGED ATTACKS MUSCLE WEAKNESS USUALLY BEGINS IN THE EXTREMITIES BUT CAN INVOLVE ANY MOTOR NEURON OR CRANIAL NERVE….
"CNS INVOLVEMENT MAY PRODUCE SEIZURES OR MENTAL DISTURBANCES (EG., APATHY, DEPRESSION, AGITATION, FRANK PSYCHOSIS, HALLUCINATIONS)…. [some of these may be due to low sodium or magnesium] which can also contribute to arrhythmias [or heart palpitations].
"Subacute/subchronic symptoms: SOME PATIENTS EXPERIENCE PROLOGED SYMPTOMS OF LESSER INTENSITY (eg. OBSTIPATION [severe constipation], FATIGUE, HEADACHE, BACK OR THIGH PAIN, PARESTHESIA [numbness and tingling], TACHYCARDIA [rapid heartbeat], DYSPNEA [shortness of breath], INSOMNIA, MENTAL DISTURBANCE, SEIZURES)."
I found this very interesting, as when I became severely ill during the last decade, I repeatedly experienced some of these symptoms, including the reddish urine (which is diagnostic during an attack!). I was at the time undergoing surgeries and therapy with an antibiotic that is listed as UNSAFE for people with porphyria.
Analgesics which are listed in the Merck as UNSAFE in porphyria are: dextropropoxyphene, propoxyphene, diclofenac, meprobamate. Unsafe Anesthetics are lidocaine and certain barbiturates. A number of antibiotics (chloramphenicol, clindamycin, erythromycin, ketoconazole, sulfonamides, and others) are included on the list, as well as ergot for migraines, the hormones Danazol and progesterone, and muscle relaxants Carisoprodol and orphenadrine.
Here's the information about reddish urine which is interesting:
"Reddish or reddish-brown urine, not present before onset of symptoms, is a cardinal sign and is present during full-blown attacks. A urine specimen should be examined in patients with abdominal pain of unknown cause, especially if severe constipation, vomiting, tachycardia, muscle weakness, bulbar involvement or mental symptoms occur." (Ibid. p.1228)
(I would think that you could check this at home by peeing in a clear jar and keeping it around for a day or two to see if a reddish ring develops on the glass… just a wild guess, not a medical opinion!)
Urine should be tested for PBG, and if positive, a quantitative test for PBG and ALA. If PBG and ALA are normal, another diagnosis is considered. However, "Elevated ALA with normal or slightly increased PBG suggests lead poisoning or ALAD-deficiency porphyria. Analysis of a 24-h urine specimen is not useful. Instead a random urine specimen is used, PBG and ALA concentrations being corrected for dilution by relating to the creatinine concentration of the sample. Electrolytes and [Magnesium] should be measured. [Low sodium] may be present from excessive vomiting or diarrhea with hypotonic fluid replacement or from the syndrome of inappropriate ADH secretion (SIADH)." (ibid. p.1228)
Thank you for sharing your info Cher! I have learned something today. SIADH is another avenue for me to study up on, as I suspect I had a problem with this myself. (And I TOLD them so!) ADH is anti-diuretic hormone - if your body isn't producing ADH, you can drink liters of water, but your body cannot retain fluids, they go right through you - and you get severely dehydrated.
I became so extremely ill from "medical treatments" that I have PTSD and cannot even consider minor surgery or antibiotic use in the future. No doctor took my opinions seriously, and no one has ever been able to explain what was so wrong with me for close to a decade. I healed myself, somewhat, and now avoid "medical treatment" as much as possible.
I apologize for this long post, but I'm sure there is SOMEONE out there with porphyria (maybe NOT you or I!) who is not being diagnosed correctly, so I hope this can help someone else out! For fibro patients who see themselves in this information, it wouldn't hurt to ask for a simple urine test to check your PBG levels!
Best of luck with the testing Cher. Don't think you need to be scared. This can be managed if you have it. Hang in there!