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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
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 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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How's porphyria cutanea tarda diagnosed?

How's 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

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What is porphyria and what sets it off?

What is porphyria and what sets it off?

Porphyria: The porphyrias are hereditary conditions in which heme, the oxygen carrying molecule inside red cells, isn't made correctly. Several different enzyme mutations are responsible. A patient's symptoms depend on the enzyme affected. Some people are "set off" by exposure to light and others by certain diets or medications. You need to know the type of porphyria you have in order to know what to avoid. ...Read more

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How is porphyria cutanea tarda treated?

How is porphyria cutanea tarda treated?

See below: Pct is the most treatable of the porphyrias. Treatment seems to be equally effective in familial and non-familial pct. Factors that tend to activate the disease should be removed. The most widely recommended treatment is a schedule of repeated phlebotomies (removal of blood), with the aim of reducing iron in the liver. This actually reduces iron stores throughout the body. ...Read more

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What is the scientific term for porphyria?

What is the scientific term for porphyria?

Porphyria: There are nine subtypes, each different, due to deficiency of a particular enzyme. ...Read more

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How to prevent attacks of acute porphyria?

How to prevent attacks of acute porphyria?

Become pro-active: One of my study cases with the medical students involves an unfortunate woman whose illness was missed and was given Phenobarbital for her "nerves", with lethal results. Learn what medications and stressors to avoid. Stay fit. Good hydration and perhaps a sugary drink may help if you can sense an attack coming up; your physician will know whether to offer hematin. Best wishes. ...Read more

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What is this rare disease called porphyria?

What is this rare disease called porphyria?

Porphyria: From adam: "porphyrias are a group of rare disorders passed down through families, in which an important part of hemoglobin, called heme, is not made properly. Heme is also found in myoglobin, a protein found in certain muscles... Patients with porphyria have a deficiency of certain enzymes needed for this process. Porphyrias involve 3 major symptoms: abdominal pain, rashes, and neurologic symptom. ...Read more

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What can cause porphyria victims to crave blood?

What can cause porphyria victims to crave blood?

Old legend: There's an idea, probably ill-founded, that congenital erythropoietic porphyria, which produces hairiness, a mutilated face, red teeth, and pain on going into sunlight is the origin of vampire / werewolf tales. The tale that these people crave blood (this isn't a classic feature) may have been added as the story grew, though heme is one factor that suppresses some forms of the illness. ...Read more

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Do high level of porphyrins always mean you have porphyria?

Do high level of porphyrins always mean you have porphyria?

Not always: Increased protoporphyrin levels may be a sign of: anemia, chronic disease, infection, iron deficiency anemia and lead poisoning to name a few. ...Read more

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Is it possible for you to die from porphyria cutanea tarda?

Is it possible for you to die from porphyria cutanea tarda?

No, but...: There is often underlying hemochromatosis, alcohol abuse or hepatitis c and these are often deadly if missed. Depending on the gene that gave you the pct, you may have none of these above. It won't kill you, but it can mutilate your skin. Get with someone good at managing this illness. ...Read more

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Sunlight hurts when it hits my skin. Have you heard of porphyria?

Sunlight hurts when it hits my skin. Have you heard of porphyria?

Sun sensitivity: Porphyria is a disease of hemoglobin metabolism where abnormal chemicals are produced in the body that are sensitive to ultraviolet light. In severe forms of porphyria, people get red teeth and lips, and it is believed that count dracula had porphyria, and could only go outdoors at night. It is likely that you have another form of sun sensitivity, so use a sunscreen, and use long sleeve shirts. ...Read more