Porphyria

Question: Porphyria ? Any one out there have this. I was told 5 years ago that I have this...If you do what do you take other then meds from Dr.....Any good web sites regarding this? Thanks

Answer: Porphyria is a disorder caused by a change in the amount of porphyrins (nitrogen-containing substances) found in the blood. This can cause abdominal pain, skin lesions, light sensitivity, anemia, and neurological changes. Please see the webpages for more details on Porphyria.

Question: 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.

Answer: 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

Question: What is the sequence of the mutation of porphyria AIP? Also, anyone know the location on the gene on the chromosome?

Answer: it's on chromosome 11q24.1-q24.2 i don't know hte mutation though good luck

Question: 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

Answer: 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

Question: 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).

Answer: 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.

Question: 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.

Answer: 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

Question: 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.

Answer: 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.

Question: 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.

Answer: 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.

Question: 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?

Answer: That's a tough thing to have. It's great that you're supportive.

Question: How long can someone survive with having Porphyria? Any type of Porpyria will do.

Answer: Actually, the prognosis for porphyria is usually good if the disease is recognized early and treatment and preventive measures are started before there is severe nerve damage. The problem is that there are at least 8 known types of prophyria with a wide variety of symptoms - photosensitivity, blistering, necrosis of the skin, abdominal pain, vomiting, neuropathy, seeizures, hallucinations, depression, paranoia, caridac arrhythmias, chronic severe pain and darkened urine. In addition, symptoms related to an acute attack of porphyria are similar to those found in many other diseases, such as systemic lupus, Guillian-Barre syndrome, lead poisoning, certain psychotic disorders, etc. But assuming the diagnosis is made, prompt treatment of acute attacks and lifestyle changes can help in increasing periods of latency, meaning periods of time where the disease is inactive. Preventive measures would include avoidance of exposure to the sun and the taking of certain medications, such as sedatives, barbituates, birth control pills and tranqualizers. Also, one should not engage in fasting, smoking or alcohol consumption. Any infections need to be treated immediately and treatment for porphyria should be provided if surgery is needed for any reason and when there is an increase in menstrual hormones. Finally, someone with porphyria needs to avoid stress. The American Porphyria Foundation provides information for those with the disease and their families.

Question: What will people with porphyria do if we have to use fluorescent lights? Porphyria causes burns and blisters on the skin in the presence of sunlight, halogen light and fluorescent light. Migraine sufferers and those with certain types of lupus are also sensitive to fluorescent light. I am referring to the proposed ban on incandescent lights. Is the weather nice beneath that rock?

Answer: "You bring up good points. you must be silenced. We can't worry about the minority! we must have our way. we must imposed. if you have a problem with our new lights, that's a 'you problem'." And with that Al Gore climbs into his jet and flies home.

Question: How long can someone survive with having the disease Porphyria?

Answer: Which one? There are 8 different types: http://www.porphyriafoundation.com/about… With AIP, an attack can be fatal, and this occurs about 1% of the time. People with porphyria can live a normal life span, but are more prone to complications like high blood pressure and renal failure, which carry their own morbidities.

Question: Could having Porphyria result in having to drink blood? 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.)

Answer: 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.

Question: Are there any metaphors in Porphyria's lover? I know that the whole poem is a metaphor but I cant find any actual examples where it says that one thing IS another. There are similes - as a shut bud that holds a bee. Please help!

Answer: Have you forgotten the definition of simile? It's "a metaphor using 'like' or 'as.' " On another note, I'd say the hair is definitely a metaphor- being that this is a Victorian poem, a metaphor for sexuality. Victorians only "let their hair down" around those they were closest to- their husbands or lovers. Unrestraint, in the Victorian era, was a bit like sexual invitation in the Victorian era- when ankles were covered, dresses went to the neck, and hair was always kempt.

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

Answer: 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.

Question: Is Obama's Purple lips from his Marfan's Syndrome or from Porphyria if the latter should we expect more Change? I understand this has happened to other World Leaders. Maybe it is stress related, like the Graying of the Presidents hair.

Answer: More likely from the cigarettes. He's too short for a Marf and he doesn't have blisters or hair on his forhead for a Porph