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Doctor insights on: Hematin Porphyria

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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

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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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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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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What's porphyria cutanea tarda?

What's porphyria cutanea tarda?

See below: Pct is one of the hepatic porphyrias. Large amounts of porphyrins build up in the liver when the disease is becoming active. The disease becomes active when acquired factors, such as iron, alcohol, hepatitis c virus (hcv), hiv, Estrogens (used, for example, in oral contraceptives and prostate cancer treatment) and possibly smoking, combine to cause a deficiency of urod in the liver. ...Read more

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What is porphyria cutanea tarda?

What is porphyria cutanea tarda?

Blistering disease: It is a disease that causes blistering seen more often in alcoholics because of enzyme defect causing increased porphyrins in blood. See dermatologist for full details and treatment. ...Read more

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Porphyria cutanea tarda symptoms?

Porphyria cutanea tarda symptoms?

Skin changes: A physician familiar with pct can make the call just on physical exam. The labs are confirmatory. A check for iron overload and hepatitis c are wise, but you'll manage the illness by becoming educated and doing a few simple things. Best wishes. ...Read more

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Can porphyria cause high bilirubin?

Can porphyria cause high bilirubin?

Might occur: Some variants of porphyria can affect the liver and cause abnormal liver testing. You can get answers by analyzing your urinary and serum porphyrin levels, and this could allow interventional approaches to bring under full control. ...Read more

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What are the risks of acute porphyria?

What are the risks of acute porphyria?

Very serious: The pain is often agonizing, the mental confusion can land the person in the mental hospital permanently, the hyponatremia can be dangerous, and even the constipation sufficient to wreck the quality of life. Management of the illness is successful only if the patient can become educated and proactive in their own care. ...Read more

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Hows porphyria cutanea tarda diagnosed?

Hows porphyria cutanea tarda diagnosed?

See below: The preferred screening test for pct is a measurement of porphyrins in plasma. This can differentiate pct from variegate porphyria. The patterns of porphyrins in urine (predominately uroporphyrin and 7-carboxylate porphyrin) and feces (predominately isocoproporphyrin) help to confirm the diagnosis. The presence of an inherited deficiency of urod can be demonstrated by measuring the enzyme in rbcs. ...Read more