FAQ - porphyria, erythropoietic
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What is the scientific name for porphyria?


I have to research the genetic disorder porphyria for Biology. One of the requirements for the project I have to do is to find the scientific name for the disorder. I tried looking it up on Google but couldn't find it so I was wondering if there actually was a scientific name for porphyria. Please give me the website in which I can find the scientific name (if there is one) if possible.
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Porphyria IS the scientific name for porphyria. There are various types of porphyria (variegate porphyria, acute intermittent porphyria, etc.) but there isn't any other term to describe this set of conditions in common medical use.  (+ info)

What is porphyria? Is it related to vampirism? How do I know if I have it?


My grandmother, mother, and I are very sensitive to sunlight and our heritage is from Transylvania. I sometimes feel like passing out when I don't get enough iron (and I am not anemic). I have always liked the taste of raw meat and blood. Does this mean I have porphyria or that I may be a vampire (if vampires exist).
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u are not a vampire, lets get that clear.

What is porphyria?(copied and pasted)

Porphyria is a term that refers to a group of disorders—the porphyrias—that affect the nervous system or skin, or both. Each type of porphyria is due to the deficiency of one of the enzymes needed to make a substance in the body called heme. Enzymes are proteins that help chemical reactions happen in the body. Making heme involves a series of eight different enzymes, each acting in turn.

Heme is a red pigment composed of iron linked to a chemical called protoporphyrin. Heme has important functions in the body. The largest amounts of heme are in the blood and bone marrow in the form of hemoglobin within red blood cells. Hemoglobin gives blood its red color and carries oxygen from the lungs to all parts of the body. In the liver, heme is a component of proteins that have many functions, including breaking down hormones, drugs, and other chemicals and generating high-energy compounds that keep liver cells alive and functioning normally.

The body makes heme mainly in the bone marrow and the liver. The process of making heme is called the heme biosynthetic pathway. Each step of the process is controlled by one of eight enzymes. If any one of the enzymes is deficient, the process is disrupted. As a result, porphyrin or its precursors—chemicals formed at earlier steps of the process—may build up in body tissues and cause illness.  (+ info)

I Have Acute Intermittent porphyria Do you have it? Would like to talk to others with this disease?


Would like to talk to others with this disease. I know it is a rare disease but it is effecting my everyday life.
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Robbie, if you live in So. California, there's a good support group in this area. We meet twice a year and do our best to help each other feel less distant from other people. A rare disorder is not fun. I have VP and have experienced all kinds of mistreatment from MDs, etc. Nita  (+ info)

what's the difference between porphyria and Photosensitivity?


I know I didn't spell those diseases wrong,
They are diseases of the sun, and I don't now the difference between them.
Give me differentiation please.
Thank You
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Your spelling is refreshingly correct. Your question is a good one. And the short answer is that porphyria is a group of disorders which includes the other, photosensitivity, as a subtype. Photosensitivity is both a stand-alone condition and a subtype or symptom of several other conditions.

Porphyria is a group of enzyme disorders in the heme producing systems in the body, primarily the blood, liver and the bone marrow. The function of heme as a component of hemeglobin, the molecule which carries oxygen. The disorders are considered to be primarily genetic but can also be triggered or caused by certain medications, infection, alcohol, smoking, hormones/hormone changes during menstruation or pregnancy, illness, stress, fasting. Diagnosis can be very difficult.

Although there are many types of porphyrias, there are two basic types of porphyrias. While neither is curable, the Mayo Clinic says that there are treatments for certain types and lifestyle changes which can make some conditions manageable.

The first type affects the nervous system and symptoms include chest and/or abdominal pain, vomiting, diarrhea or constipation. While suffering an attack a person my feel muscle numbness, tingling, cramps, paralysis, personality changes, hallucinations, anxiety, seizueres, coma.

The other type is cutaneous tardive porphyria which affects the skin. The primary symptom is photosensitivity. This type causes the skin to be extremely sensitive to sunlight. Symptoms include reddness, rash, increased hair growth, scarring, infections, pigmentation changes, blisters.

Photosensitivity can be a symptom of porphyrias, it can be a trigger for conditions such as epilepsy, and it can stand alone as what is often considered an allergy condition or a drug-induced condition. It can also occur with cutaneous lupus. There are several medications (most of which have the warnings printed on the bottle or info sheet) which can trigger photosensitivity such as acne meds, tetracycline, St Johns wort (where UV exposure can trigger cataract development) It is not just strong, long sun exposure which can create the conditions for rashes, blistering, swelling. Winter sunlight, even reflected sunlight can trigger reactions in as little as 10 minutes.

Photosensitivity is defined by the American College of Rheumatology as "a skin rash as a result of unusual reaction to sunlight. According to Healthline, there are over 36 diseases, 24 drugs and several perfune and cosmetic components which can cause photosensitivity which they define as "any increase in the reactivity of the skin to sunlight." In addition there are several different types of reactions: phototoxicity, photoallergy and polymorphous light erruption (which causes those little bumps and blisters in a delayed reaction to UV exposure.)
I know this is long but I though that your question merited the long version.
Sources and suggested reading:
http://ghr.nlm.nih.gov/condition=porphyria
http://www.nlm.nih.gov/medlineplus/porphyria.html
http://www.mayoclinic.com/health/porphyria/DS00955
http://porphbook.tripod.com/12.html
http://www.lupus.org/webmodules/webarticlesnet/templates/new_aboutdiagnosis.aspx?articleid=94&zoneid=15
http://www.healthline.com/galecontent/photosensitivity  (+ info)

Are people with porphyria proven insane?


Are people with porphyria actually insane? Some mental disorders cooccur with porphyria which makes them seem insane, but I can't find out anywhere if they are insane or if that is just a deceiving concept of the mind.
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Very Interesting question. I could discuss this issue with you for hours. I have a page saved in my Computer talking about this issue. I believe its titled Porphyria scams. Ill link it for you,
Good Day

http://business.gorge.net/zdkf/osd-psc.html  (+ info)

Does anyone have any experience with accute porphyria?


My girlfriend has accute porphyria and I was just wondering if anyone has any advice to help her. She has done the blood tranfusions at Emory which helped out a lot. Any other idea?
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That's a tough thing to have. It's great that you're supportive.  (+ info)

Can anyone give me some information about porphyria?


This is a rare blood disease in which heme (a normal factor in our blood) is? This is not the skin form of the disease that I am looking for information on.
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Porphyria is a rare blood disorder. It occurs when there is a disorder of the haem production pathway enzymes.

The wiki page is a good place to start.  (+ info)

Does anyone out there know about the disease Porphyria?


I know quite a bit because I have it, but my doctors (even the one who finally diagnosed it) don't listen to me when I talk about symptoms such as severe abdominal pain, muscle pain and weakness, and severe numbness in my feet and ankles. I have read about a drug called "heme". Can anyone tell me what they know or have experienced? I am getting sicker and desperate.
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Porphyria is not a single disease but a group of at least eight disorders that differ considerably from each other. A common feature in all porphyrias is the accumulation in the body of "porphyrins" or "porphyrin precursors." Although these are normal body chemicals, they normally do not accumulate. Precisely which of these chemicals builds up depends upon the type of porphyria.

The clinical manifestations of the different types of porphyria are not the same. Forms of treatment also depend on the type of porphyria. Therefore, it is difficult to make general statements that apply to all these disorders.

The symptoms arise mostly from effects on the nervous system or the skin. Effects on the nervous system occur in the acute porphyrias. Proper diagnosis is often delayed because the symptoms are nonspecific. Skin manifestations can include burning, blistering, and scarring of sun-exposed areas.

The terms "porphyrin" and "porphyria" are derived from the Greek word "porphyrus" meaning purple. Urine from some porphyria patients may be reddish in color due to the presence of excess porphyrins and related substances in the urine, and the urine may darken after exposure to light.   (+ info)

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


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.
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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?


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?
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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)

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