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 Porphyria - the Unknown Disease 
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Post Porphyria - the Unknown Disease
Porphyria

Porphyria is a group of different disorders caused by abnormalities in the chemical steps leading to the production of heme, a substance that is important in the body. The largest amounts of heme are in the blood and bone marrow, where it carries oxygen. Heme is also found in the liver and other tissues.

Multiple enzymes are needed for the body to produce heme. If any one of the enzymes is abnormal, the process cannot continue and the intermediate products, porphyrin or its precursors, may build up and be excreted in the urine and stool.

The porphyria disorders can be grouped by symptoms—whether they affect the skin or the nervous system. The cutaneous porphyrias affect the skin. People with cutaneous porphyria develop blisters, itching, and swelling of their skin when it is exposed to sunlight. The acute porphyrias affect the nervous system. Symptoms of acute porphyria include pain in the chest, abdomen, limbs, or back; muscle numbness, tingling, paralysis, or cramping; vomiting; constipation; and personality changes or mental disorders. These symptoms appear intermittently.

The porphyrias are inherited conditions, and the genes for all enzymes in the heme pathway have been identified. Some forms of porphyria result from inheriting an abnormal gene from one parent (autosomal dominant). Other forms are from inheriting an abnormal gene from each parent (autosomal recessive). The risk that individuals in an affected family will have the disease or transmit it to their children is quite different depending on the type.

Attacks of porphyria can develop over hours or days and last for days or weeks. Porphyria can be triggered by drugs (barbiturates, tranquilizers, birth control pills, sedatives), chemicals, fasting, smoking, drinking alcohol, infections, emotional and physical stress, menstrual hormones, and exposure to the sun.

Porphyria is diagnosed through blood, urine, and stool tests. Diagnosis may be difficult because the range of symptoms is common to many disorders and interpretation of the tests may be complex. Each form of porphyria is treated differently. Treatment may involve treating with heme, giving medicines to relieve the symptoms, or drawing blood. People who have severe attacks may need to be hospitalized.


The symptoms of porphyria are many and varied. Each porphyria patients reacts differently from another, and each acute attack of porphyria varies from another. Also be aware when seeking medical care that many medical professionals including physicians are still learning about porphyria and many may never have treated a patient with porphyria. *Please be aware that there is no cure for porphyria. Also please be aware that some types of porphyria treatments are experimental. The following symptomology is classifed according to types.

General Symptomology:


___Abdominal pain
___Abdominal tenderness
___Loss of appetite
___Nausea
___Vomiting
___Constipation
___Carbohydrate craving
___Breast secretions
___Diarrhea
___Partial ileus [Intestinal blockage]
___Abdominal distention
___Dysuria [Painful Urination]
___Bladder Dysfunction
___Urinary Retention
___Amenorrhea [Lack of menses]


Physical Findings of Acute Attack

___Red or dark urine
___Tachycardia [Pulse] >100
___Labile hypertension >90 diastolic [blood pressure]
___Fever [Pyrexia]
___Profused sweating
___Edema [Retention of fluids] [Swelling]
___Postural Hypotension [Low Blood Pressure]
___Hypertrichosis [excessive body hair growth]
___Hyperpigmentation [skin coloring]


Neurological Symptoms of Acute Attack
[Peripheral manifestations]


___Peripheral neuropathy
___Muscle weakness
___Paresis . paralysis
___Sensory disorde
___Respiratory paralysis
___Foot drop
___Wrist drop
___Abnormal Gait
___Pain: Arms, legs, hips and/or lower back
___Loss of sensation
___Dyesthesia
___Numbness
___Tingling
___Burning Sensation
___Bulbar paresis
___Tongue paralization
___Mouth paralization
___Throat paralization

[Cerebral manifestations]


___Behavorial change
___Anxiety
___Irritability
___Delirium
___Depression
___Confusion
___Hallucination
___Insomnia
___ANS [altered neurological state]
___Restlessness
___Sensory loss
___Seizure
___Depressed or absent tendon reflexes
___Cranial nerve involvement


Hematology/Blood Chemistry

___Hyponatremia [Below normal sodium level] <130
___Increased Bun [Urea Nitrogen]
___Increased AST [Aspartate Aminotransferase]
___Elevated Alkaline Phosphatase [Liver panel test]
___Increased ALT [Aspartate Aminotransferase]
___Hypokalemia [Below normal potassium level]
___Leukocytosis [Abnormal increase in WBC] > 10,000
___Increased ESR >22
___Hypochloremia < 90 [A decrease in the chloride level]
___Anemia [Iron deficiency]


Cutaneous manifestations

___Skin photosensitivity
___Blistering
___Severe Tissue Scarring
___Increased Hair growth
___Pigmentation Darkening
___Thickening of skin
___Severe Itching


Special lab studies

___Decreased blood volume
___EEG abnormalities
___Electromyographic abnormalities
___Muscle denervation
___Decreased nerve conduction velocity
___Abnormal CSF
___Increased fibrillation potential

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Mon Aug 07, 2006 6:11 pm
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Some Fibromyalgia patients may feel that following a strict regimen of avoiding certain chemicals or following a strict diet may not give you enough improvement to justify the effort. However, there is recent evidence to suggest that chemical sensitivity can be the result of a liver dysfunction that is a component of a medical condition known as porphyria. Porphyria has been studied for decades, and it has long been accepted that it is often degenerative in certain types of porphyria, the disability can permanently worsen over time if the patient does not avoid the triggers of their episodes.

Although this research is not yet conclusive, it creates cause for concern. If in fact Fibromyalgia, CFIDS, MCS and GWS are all related in some way or in fact really just one in the same and if all involve this typed of liver dysfunction, then avoidance of chemicals may be an important therapy for these patient groups. I would urge all FM patients to carefully evaluate the possibility that they are reacting to environmental triggers to prevent the possibility of a permanent worsening of their condition.


*****************

Cynthia Perkins, M.Ed. is a holistic health counselor specializing in issues of living with chronic illness, chronic pain and disability as well as sexual intimacy. She is also author of the inspirational E-Book Finding Life Fulfillment when Living with Chronic Illness-A Spiritual Journey.

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Mon Aug 07, 2006 6:14 pm
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How does porphyria relate to Multiple Chemical Sensitivity? MCS

One of the characteristics of patients with MCS is that their symptoms are often made worse by using mainstream medications. Several drugs are known to cause porphyrinogenic reactions, such as: alcohol, anesthetics, barbituates, sulfa drugs, antibiotics, estrogen, and muscle relaxants. It may be helpful to recall any unusual reactions you may have experienced with such things as birth control pills, anesthetics administered for surgery, intolerance to alcohol, or medications prescribed for muscle pain, bladder or throat infections. In addition, patients with porphyria and MCS both react to toxins found in paints, solvents, PCB’s, hexochlorobenzene, formaldehyde, and heavy metals - especially lead. Two different doctors in Washington State have tested 150 patients with MCR. More than 70% showed excess porphyrins and/or enzyme abnormalities.

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Mon Aug 07, 2006 6:15 pm
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Hi Soul,

Thank you for posts on porphyria. I had heard about some people having it but I did not know much about how it was affecting their lives.

This post was very informative and i appreciate you taking the time to post them. :group

Thank You, Kathy

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Mon Aug 07, 2006 9:17 pm
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Thank you Soul,

This information is invaluable, you are so wonderful to take the time/research articles to help us. So many diseases seem to follow in the wake of FM/CFS.

Bonnie


Mon Aug 07, 2006 9:33 pm
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Thank you souls for posting about my illness. I appreciate the time and effort you have put into information regarding this. My porphyria looks genetic recessive, but probably became active due to multiple chemicals I used in the photo lab-formaldehyde, silver nitrate, etc. We do not use any chemicals in the household no more, and I eat a raw food diet to help, all organic.

Katrinasmom :group


Tue Aug 08, 2006 12:08 pm
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Post They also
Think that a lot of patients with fibro and or cfs have it as well. I hope that yours doen't turn out to be genetic.

TCOYS and in the meantime here is WUAB&LPD=wishing you a brighter and less painful day.

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Tue Aug 08, 2006 11:47 pm
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:bump

I am bumping this up due to the news that I have recently received. I have either variegate or corpo porphyria, which are the hepatitic form of the illness, and are not contagious. I inherited this but unsure of which parent, possibly both. The genetics doctor thinks I have a mutation of possibly both that would not show up easily on a genetic marker test. This is caused by a deficiency of an enzyme in the heme/porphyrin pathway that iron passes through and causes iron overload of the body, affecting the liver, pancreas, spleen, gall bladder and nervous system. My liver is fine but I am unsure fo the spleen and pancreas at this time. The meds used for the Lupus I have make the porphyria worst so only time will tell and hopefully seeing a hematologist will help.

I was exposed to many chemicals in art school in the photo lab using the old original chemicals/processes of photography from the 1800's. I was exposed to silver nitrate, formaldehyde, etc to name a few and that, meds and tanning lead to the flare of this disease. There is now cure for this illness but there is meds to make me comfortable. Also detoxing is a huge step as well.

I will try to keep everyone posted for the upcoming visits I have.

Katrinasmom


Mon Jan 08, 2007 1:48 am
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Kmom,

Thank you so much for the update. I hope they can help you at the hematologist. This is a disease that definately needs posted on. Thank you Soul for all the hard work you do for us.

Much love to all,
Belle

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Mon Jan 08, 2007 8:38 am
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