FAQ - Porphyria, Variegate
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Is Porphyria a sex linked disease?


i need answers quick!!! help?
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With Porphyria, can more symptoms arise with age?


ohjoy - CP is an important medical condition because porphyria attacks can be very serious. Prevention and early management of attacks is the main goal. With a sensible approach and good medical supervision a person can have a normal lifespan and normal quality of life.

Symptoms
There are various symptoms which a person can experience during an attack of porphyria however most involve the nervous system and skin. Attacks are rare before puberty and uncommon after menopause. The majority of attacks can be traced to a precipitating factor.
The most common symptoms during an attack of acute porphyria are:
1. stomach/abdominal pain (90% of patients)
2. dark urine (74%)
3. pains, numbness or tingling of arms and legs (40-50%)
4. constipation (48%)
5. nausea/vomiting (43%)
6. hallucinations or mood swings (40%)
Others are weakness in arms or legs, loss of feeling in hands and feet, seizures or fits, fevers or chest pain. For most people, mild symptoms are more frequent than acute attacks.
Chronic skin problems occur in 30% of people and may fluctuate in severity. Episodes are not generally related to porphyria attacks. Patients can develop liver disease, but this is later in the condition, and very rare.  (+ info)

what is the medical definition of porphyria?


Porphyrias are a rare group of disorders passed down through families in which an important part of hemoglobin, called heme, does not develop properly. Heme is also found in myoglobin, a protein found in certain muscles.  (+ info)

does anyone know what porphyria is?


my doctor said I might have a mild version of this and as soon as he said this my mother made me leave the room( even though I am 17) while she talked to him about this. If you could help me out please do. what is this porphyria?
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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.  (+ info)

Does anyone here have Porphyria?


I was just diagnosed with porphyria,after 3 yrs. of suffering. The doctor said there is nothing they can do for me, as it is inherited and in my genes. I suffer terribley with pain. I weigh 77lbs. now and am 5'5". There must be some kind of relief for me! I pray someone out there can give me advice. Thank you
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I don't have porphyria, but I am sorry you haven't gotten much help so far. At least you have a diagnosis, though. That is a start. It seems that the porphyrias are such rare conditions that most doctors are not very familiar with them. You might be better off finding a specialist with experience with porphyria, because it seems (from the first 2 sources below) that there are treatments. You might also check into support groups for people with porphyria (the last 2 sources below) -- they probably have a lot of good advice as well. Good luck, and I hope you get some relief soon.  (+ info)

Description of Porphyria (what is it)?


I'm doing a science project on Porphyria. I can't figure out the actual description of the disease, due to the amount of medical jargon that I'm unable to understand. I know it has to do with heme, and porphyrins, but I don' t know what they are or what they do... Please explain!!!
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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, including porphyrin or its precursors, may build up and be excreted in the urine and stool.  (+ info)

Please tell me about porphyria.is it life threatening? My brother is 61.?


Finally a doctor told him what it is and gave him some cream that helped. He said there are only 1-100,000...so they don't know much about it. He is wearing everything he can to stay out of the sun, but has long blisters on his hands, arms and one on his ear. Back when he first started he had diarrhea very bad for days and lost 5 lbs. I am a R.N. and would like to know where I can find the most info about it, also.
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Porphyrias result from genetic deficiencies of enzymes of the heme biosynthetic pathway. These deficiencies allow heme precursors to accumulate, causing toxicity. Porphyrias are defined by the specific enzyme deficiency. Two major clinical manifestations occur: neurovisceral abnormalities (generally the acute porphyrias) and cutaneous photosensitivity (generally the cutaneous porphyrias).
Please see the web pages for more details and images on Porphyrias  (+ info)

Porphyria... What is this illness?


the doc's say my mum may have acute Porphyria, what is this
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this site will help you http://www.porphyria.org.uk/acute_facts.htm  (+ info)

can a person fake porphyria?


If a specialists in this field states that this person does not have porphyria, and special tests were completed, what else could mimic this disease? Please help
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I think porphyria is sometimes diagnosed incorrectly as a mental issue, so apparently some psychological problems can cause similar symptoms.
Physical stuff- Guillan Barre (sp?) or lupus or lead poisoning I think, I'm sure there are others. Porphyria is misdiagnosed a lot as something else entirely, so I think it must have similarities to a lot of health issues.

I don't think you can 'fake' it to the point of being officially diagnosed with it really, there are medical tests that prove the diagnosis. I suppose a certain number of symptoms can be faked though?  (+ info)

what type of doctor treats porphyria?


This is a disease which the sunlight makes blisters all of the body, affects the liver....
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