What is the disease Porphyria? How do I know if I have it or not?

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I dont think i spelled the disease name right but whtev. Wht is it. wht r the symptoms? and how do I know if I or someone I know cld have it? and another thing i shld metion. imma blonde. so if u cld make it easy 2 understand. tht wld b great.
Porphyrias are a group of inherited or acquired disorders of certain enzymes in the heme biosynthetic pathway (also called porphyrin pathway). They are broadly classified as acute (hepatic) porphyrias and cutaneous (erythropoietic) porphyrias, based on the site of the overproduction and accumulation of the porphyrins (or their chemical precursors). They manifest with either neurological complications or with skin problems (or occasionally both). An induced clinically and histologically identical condition is called pseudoporphyria. Pseudoporphyria is characterized by normal serum and urine porphyrin levels.

Signs and symptoms

[edit] Acute porphyria
The acute, or hepatic, porphyrias primarily affect the nervous system, resulting in abdominal pain, vomiting, acute neuropathy, seizures and mental disturbances, including hallucinations, depression, anxiety and paranoia. Cardiac arrhythmias and tachycardia (fast heart rate) may develop as the autonomic nervous system is affected. Pain can be severe and can, in some cases, be both acute and chronic in nature. Constipation is frequently present, as the nervous system of the gut is affected, but diarrhea can also occur.

Given the many presentations and the relatively uncommon occurrence of porphyria the patient may initially be suspected to have other, unrelated conditions. For instance, the polyneuropathy of acute porphyria may be mistaken for Guillain-Barré syndrome, and porphyria testing is commonly recommended in those scenarios.[4] Systemic lupus erythematosus features photosensitivity, pain attacks and shares various other symptoms with porphyria.[5]

Not all porphyrias are genetic, and patients with liver disease who develop porphyria as a result of liver dysfunction may exhibit other signs of their condition, such as jaundice.

Patients with acute porphyria (PCT, AIP, HCP, VP) are at increased risk over their life for hepatocellular carcinoma (primary liver cancer) and may require monitoring. Other typical risk factors for liver cancer need not be present, such as hepatitis B or C, iron overload or alcoholic cirrhosis.


[edit] Cutaneous porphyria
The cutaneous, or erythropoietic, porphyrias primarily affect the skin, causing photosensitivity (photodermatitis), blisters, necrosis of the skin and gums, itching, and swelling, and increased hair growth on areas such as the forehead. Often there is no abdominal pain, distinguishing it from other porphyrias.

In some forms of porphyria, accumulated heme precursors excreted in the urine may cause various changes in color, after exposure to sunlight, to a dark reddish or dark brown color. Even a purple hue or red urine may be seen.


[edit] Diagnosis

[edit] Porphyrin studies
Porphyria is diagnosed through spectroscopy and biochemical analysis of blood, urine, and stool.[6] In general, urine estimation of porphobilinogen (PBG) is the first step if acute porphyria is suspected. As a result of feedback, the decreased production of heme leads to increased production of precursors, PBG being one of the first substances in the porphyrin synthesis pathway.[7] In nearly all cases of acute porphyria syndromes, urinary PBG is markedly elevated except for the very rare ALA dehydratase deficiency or in patients with symptoms due to hereditary tyrosinemia type I.[citation needed] In cases of mercury- or arsenic poisoning-induced porphyria, other changes in porphyrin profiles appear, most notably elevations of uroporphyrins I&III, coproporphyrins I&III and pre-coproporphyrin. [8]

Repeat testing during an attack and subsequent attacks may be necessary in order to detect a porphyria, as levels may be normal or near-normal between attacks. The urine screening test has been known to fail in the initial stages of a severe life threatening attack of acute intermittent porphyria.[citation needed]

The bulk (up to 90%) of the genetic carriers of the more common, dominantly inherited acute hepatic porphyrias (acute intermittent porphyria, hereditary coproporphyria, variegate porphyria) have been noted in DNA tests to be latent for classic symptoms and may require DNA or enzyme testing. The exception to this may be latent post-puberty genetic carriers of hereditary coproporphyria.[citation needed]

As most porphyrias are rare conditions, general hospital labs typically do not have the expertise, technology or staff time to perform porphyria testing. In general, testing involves sending samples of blood, stool and urine to a reference laboratory.[6] All samples to detect porphyrins must be handled properly. Samples should be taken during an acute attack, otherwise a false negative result may occur. Samples must be protected from light and either refrigerated or preserved.[6]

If all the porphyrin studies are negative, one has to consider pseudoporphyria. A careful medication review often will find the inciting cause of pseudoporphyria.


Additional tests
Further diagnostic tests of affected organs m  (+ info)

what is porphyria? why is it called the vampire disease?

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someone was telling me about this disease and i was confused as to why it is called the vampire disease. how can you get it?
porphyria is a condition in which one reacts badly to sunlight, Ex: boils, blisters, instant sunburn. It is not at all contagious, and may cause mild to severe delusions. It is sometimes called the vampire disease because in common mythology a vampire could not walk into sunlight without dieing, or sustaining some sort of heat related damage like spontaneous combustion.  (+ info)

Do you know anyone or anything about Porphyria?

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I know someone with it that says he has this as a mutation and is a modern day vampire. He has said as well he biting someone and making them bleed they are becoming one and they say they are afterwords about how their heart is a different place, they have fangs and, blah, blah . Do he and them just have their heads in the clouds? What do you know about this "vampire disease"?
i think their heads in the clouds. it's a rare genetic disease. I've never heard of it if I wasn't vampire fans.
this all info you need :
http://en.wikipedia.org/wiki/Porphyria

add: and there also a group gathering about sanguine and physic vampires who explain everything in their own way :
http://www.sanguinarius.org/links/  (+ info)

Could having Porphyria result in having to drink blood?

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Porphyria is a rare hereditary disease that stops the production of Heme, the main component of red blood cells. If suffering from this disease, could you possibly drink human blood and replace the Heme in your body through digestion? And if so, would we not categorize Porphyria victims of Vampirism? (Porhyria also makes you extremely sensitive to sunlight, AND makes you allergic to garlic, which slows the production of Heme even more. Making a subtle case of porphyria more severe.)
A lot of treatment in the past used to be bloodletting. Eg. if you had a fever, they would use a lance and let some of the hot blood out to restore balance in the body. Its where The Lancet medical journal gets its name. In Porphyria, treatment tried may have been drinking blood or animal blood to restore balance.

Severe Porphyria also results in florescent, sharp teeth.  (+ info)

What is porphyria or vampire disease?

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What exactly is it?
How does a person get it?
What kind of doctor would you go to if you think you have it?
  (+ info)

How can I tell if I have depression or if its just caused by porphyria?

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Well since depression and psychiatric changes are a symptom of the disease i imagine it could be both. Being sick all the time is known to cause depression. Compounded by the fact that its already a symptom of porphhyria.
Speak to you doctor about your concerns. Get a second or third opinion if you don't feel you are being heard or treated properly.  (+ info)

In real-life terms, what is porphyria? How do you live with it? What happens to you? Is it a death sentence?

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A friend of mine was diagnosed, but didn't say what type. She said it was eating away at her liver and needs a transplant in the future. She said they also told her she is infertile.

Is this a death sentence for her or is this livable?
There are MANY types of porphyria, but I'll try to explain the general idea. They are all disorders of haeme synthesis (haem as in haemoglobin). Basically, there is accumulation of the intermediate molecules in the haeme synthesis process. Exactly what is accumulated depends on which step(s) is affected, i.e. where the defect is (type of porphyria).

The enzyme/etc. defects causing the porphyrias are usually inherited, although porphyrias can be acquired as well (.e.g. lead poisoning!). The accumulation of the intermediate products damages various organs, most notably the liver.

How she lives with it depends on which type of porphyria she has. I obviously can't say from this distance, but since you mentioned both liver involvement and infertility, one guess is porphyria cutanea tarda, which is associated with iron accumulation in the body (haemochromatosis). This causes both liver damage and infertility.

The porphyrias are not a 'death sentence' per se, they are manageable to a certain extent depending on the type and what/any damage done before diagnosis. They certainly require careful and constant follow-up with doctors though, to minimise complications and deal with them when needed.

Hope this helps.

Feel free to contact me if I can help any more, since it's really hard to go into much detail in this limited space.  (+ info)

Did you know your first and last clue to porphyria in your family may be a fatal drug reaction?

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Acute flaccid paralysis, fatal seizures, pancreatitis, bowel infarction, acute liver failure, psychosis, catatonia, depression, mania, suicide, photosensitivity, blistering skin lesions, early onset renal failure, pericarditis/myocarditis, sudden cardiac arrest with autonomic arrhythmia, rhabdomyolysis (muscle condition associated with statin drugs), lactic acidosis, eosinophilic fasciitis (another drug or chemical induced reaction) are all presentations of porphyrias. These are complex inherited metabolic disorders that are aggravated by drugs, chemicals, hormones, heavy metals, nutrition, infections and stress, but also modified by the inheritance of other genes including the inheritance of two porphyrias known as dual porphyrias. They are not easy to diagnose with present limited technology and there are multiple DNA subvariants. They are especially difficult to diagnose before puberty and in autopsies. The information is out there in libraries and on Pubmed.
is this a question???  (+ info)

If an individual suffered from porphyria and rabies, what creature of European folklore would they resemble?

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Porphyria is an allergy to sunlight.

Rabies is a contagious disease spread by saliva of those infected with it. Rabies makes those infected with it want to bite others. It is also known as hydrophobia - meaning "fear of water" - because those afflicted with it do not want to get wet. Therefore they tend to shy away from water.
Dracula  (+ info)

Why does acute intermittent porphyria (AIP) cause abdominal pain?

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Abdominal pain is the tell-tale sign of AIP, so much so that doctors sometimes mistakenly think surgery is required! Why does AIP cause abdominal pain?
your disease causes porphyrin precursors, notably porphobilinogen and amino-levulinic acid, to be secreted and accumulate to toxic levels causing damage to nerves. this can manifest as stomach pain. much of the details of this condition is still unclear.  (+ info)

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