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Doctor insights on: Porphyria Emedicine

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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

Dr. Aletha Tippett
89 doctors shared insights

Porphyria (Definition)

The porphyrias are metabolic disorders caused by abnormalities in the synthesis of heme, the portion of hemoglobin which carries the iron inside red blood cells. The manifestations of porphyria vary considerably depending on the mutation involved, ranging 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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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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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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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