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Doctor insights on: Is Porphyria Progressive Or Lethal

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Is porphyria progressive or lethal?

It can be: There are many forms of porphyria, some of which are rather mild and inconsequential, others of which are progressive and possibly lethal. If you suspect that you have porphyria, then you need to see your doc right away for diagnosis and treatment. ...Read more

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Dr. Aletha Tippett
91 Doctors shared insights

Porphyria (Definition)

Metabolic disorders caused by abnormalities in the synthesis of heme, the portion of hemoglobin which carries the iron inside red blood cells. Symptoms can range from light sensitivity to liver failure to nerve damage to bouts of terrible pain. Special testing is required to ...Read more


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What's porphyria?

What's porphyria?

Disease family: Maybe 1 person in 1000 is born with a strong tendency to porphyria cutanea tarda and some forms of hepatitis can bring it out even in a normal person; it blisters and scars sun-exposed skin. Other porphyrias masquerade as abdominal pain, mental illness, constipation, low sodium, and chronic nerve pain -- and screening tests are often done wrong. Good luck. ...Read more

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How does one get porphyria?

How does one get porphyria?

Inherited: Typically inherited problem in the breakdown of red blood cells, in particular heme. The abdominal pain and crises can be set off by medications, alcohol, or low calorie diets. Medications that cause include but are not limited to barbiturates, anticonvulsants, estrogens, oral contraceptives, or even supplements (chromium for example). ...Read more

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Can men have acute porphyria?

Can men have acute porphyria?

Yes: Both men and women can have acute porphyria. However, attacks are more common in women because of hormonal changes that occur during the menstrual cycle. ...Read more

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What cause a porphyria attack?

What cause a porphyria attack?

Porphyria results…: From lack of an enzyme in the path for making heme, the oxygen-carrying part of blood. There are many triggers for attacks:alcohol; smoking; drugs (barbiturates, sulfa antibiotics) phenytoin; progesterone; sun exposure; increased iron intake; chronic viral illness (hcv, hiv); stress (illness, emotional/ psycho-logical, physical); dieting/fasting. Http://www. Porphyriafoundation. Com/ for more info. ...Read more

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Can porphyria improve with age?

Can porphyria improve with age?

With treatment: Since most forms of porphyria are inherited there is not a cure for them. Depending on the type, treatment can relieve symptoms and improve quality of life. Acquired porphyria can improve with removal of the triggering causes. ...Read more

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What is the prognosis of porphyria?

What is the prognosis of porphyria?

Very challenging: Porphyrias are life-long diseases with symptoms that come and go. Some forms of the disease cause more symptoms than others. Proper treatment and avoidance of triggers can help prolong the time between attacks. But attacks are quite painful and can be fatal. Life is a real struggle for someone with porphyria but it is possible to even do great things - some historical figures have suffered it. ...Read more

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What are the symptoms of porphyria?

What are the symptoms of porphyria?

See below: Porphyrias involve three major symptoms: •abdominal pain or cramping (only in some forms of the disease) •light sensitivity causing rashes, blistering, and scarring of the skin (photodermatitis) •problems with the nervous system and muscles (seizures, mental disturbances, nerve damage). ...Read more

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What precipitates a porphyria attack?

What precipitates a porphyria attack?

Depends on the type: There are 8 different kinds of porphyria. Depending on the type of porphyria, an attack can be precipitated by sunlight exposure, alcohol, inadequate diet, carbohydrate restriction, certain drugs or chemicals, hormonal changes & stress. Often a combination of triggers can precipate an attack. For more info, see the porphyria foundation's website: http://www. Porphyriafoundation. Com/about-porphyria. ...Read more

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How is acute porphyria usually treated?

How is acute porphyria usually treated?

Supportive care: Glucose and hematin derivatives can be used to manage the acute attacks. The key to treatment is patient education -- it's a lifetime of learning to avoid the triggers and becoming more familiar with the illness than a physician specialist. ...Read more

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Do I need a special diet with porphyria?

Do I need a special diet with porphyria?

Probably not: There are different types of porphyrias and most of them are not affected by dietary manipulation. There is some evidence that a high carbohydrate diet will alleviate some of the acute attacks. All this should be coordinated through a physician who deals with this type of metabolic problem. ...Read more

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I have porphyria what can I do about it?

I have porphyria what can I do about it?

See a hematologist: This is a genentic disease of the blood. You would best be served by seeing a hematologist. ...Read more

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How is acute porphyria diagnosed usually?

How is acute porphyria diagnosed usually?

Urine PBG: Porphobilinogen. It's a test fraught with pitfalls and if the specimen isn't collected exactly right, you'll get a false negative. A few variants require other assays. ...Read more

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Please help! What is the disease porphyria?

Please help! What is the disease porphyria?

Porphyrias: Porphyria (poor-FEAR-e-uh) refers to a group of disorders that result from a buildup of natural chemicals that produce porphyrin in your body. Porphyrins are essential for the function of hemoglobin — a protein in your red blood cells that links to porphyrin, binds iron, and carries oxygen to your organs and tissue. High levels of porphyrins can cause significant problems. Porphyria mainly affects your nervous system, skin and other organs. The signs and symptoms of porphyria can vary, depending on the specific type and severity. Porphyria is usually inherited — one or both parents pass along an abnormal gene to their child. But in some types of porphyria, environmental factors may trigger the development of symptoms. ...Read more

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What is the most serious type of porphyria?

What is the most serious type of porphyria?

Porphyria: Probably Acute intermittent Porphyria with multiple organ involvement. Consult a Neurologist for more details. ...Read more

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What is porphyria and how can it be treated?

What is porphyria and how can it be treated?

Dermatology: Group of 8 different inherited disorders in which enzymes responsible for heme synthesis are deficient or absent. As a result, porphyrins are produced, accumulates in tissues, excreted in urine, stool. S/s: nausea, vomiting/constipation, abd. Pain, muscle weakness, seizure, photosensitivity, scar, anemia, etc. Rx: adequate nutrition, hydration, avoid sunlight/some drugs/alcohol. Follow mds advise. ...Read more

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Are people with porphyria going to die early?

No: The porphyrias are troublesome illnesses, but once diagnosed, patients usually learn to manage them on their own, avoid the triggers, and get through life like the rest of us. ...Read more