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Doctor insights on: Porphyria Emedicine

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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

Dr. Aletha Tippett
92 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 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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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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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 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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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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What are the differences between porphyria and aip (acute intermittent porphyria)?

Classification: Porphyria is a general term for a host of conditions, and acute intermittent porphyria is a variety of a more common variation in this disease category. ...Read more

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Ayurvedic treatment for von hippel lindau disease?

Ayurvedic treatment for von hippel lindau disease?

Questionable: Others might disagree, and certainly ayurvedic treatment can be used along with other things if it makes you feel better, but I would concentrate on traditional treatments and diagnoses for this very serious syndrome ...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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What causes wilson's disease?

What causes wilson's disease?

Genes: Wilson's disease is due to mutations in the wilson disease protein (atp7b) gene. Wilson's - konovalov's disease or hepatolenticular degeneration is an autosomal recessive genetic disorder in which copper accumulates in tissues like the liver and cornea; this manifests as neurological or psychiatric symptoms and liver disease. It is treated with medication and sometimes liver transplant. ...Read more

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Can someone with porphyria cutanea tarda make babies?

Can someone with porphyria cutanea tarda make babies?

YES!: Although rare, pregnancies have been reported in women suffering from porphyria cutanea tarda with good outcomes. Expert care from a maternal-fetal medicine, dermatology, hepatology and metabolism specialist is essential. ...Read more

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Hello docs, is alpha-1 antitrypsin deficiency life-threatening?

Hello docs, is alpha-1 antitrypsin deficiency life-threatening?

Yes: With some variation, the form presenting in childhood can lead to liver failure and death if a liver transplant is not available. The chronic lung issues are disabling for some. ...Read more

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Can you tell me about the difference between porphyria and aip (acute intermittent porphyria)?

See below: Please consult this site for an explanation of this group of disorders. http://www.mayoclinic.org/diseases-conditions/porphyria/basics/definition/con-20028849 ...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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Online site relating to hellp syndrome?

Online site relating to hellp syndrome?

Yes I wil: Her it is>http://en.Wikipedia.Org/wiki/hellp_syndrome good luck.

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Why's addison's disease so rare?

Why's addison's disease so rare?

Life threatening: We're lucky it is uncommon, because untreated addison's disease can be fatal. Most addison's in developed countries is autoimmune, and sometimes associated with other autoimmune diseases (eg. Hashimoto's, type 1 diabetes, etc). ...Read more

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What causes Gaucher's disease?

What causes Gaucher's disease?

Inherited: Gaucher's disease GD is an inherited / genetic metabolic disorder that causes an enzyme deficiency. This deficiency disables the process that allows for the breakdown of a class of compounds called glycolipids causing them to accumulate in abnormal concentration in various organs resulting in damage to these organs. ...Read more

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What causes Hyperkalemia in Addison's disease?

What causes Hyperkalemia in Addison's disease?

Distal tubule: In the absence of aldosterone and its like from the adrenal cortex, the proximal tubule has some mechanisms that ordinarily waste sodium and hang onto potassium. This will get you started. ...Read more