What is Porphyria?

Question

I've looked it up in medical dictionary's, but I don't understand what it means. So....... can someone tell me in dummies terms what it means?

wikipedia don't help!

Answer 1

I field thru a lot of materials on this interesting disease.and this is a synopsis in simple terms: Medical dictionary and Wikipedia are not so reliable sources. Try yahoo Search.


Porphyria

Definition:

Porphyrias are a rare group of disorders passed down through families; (inherited autosommal recessive disorder) in which an important part of hemoglobin, called heme, does not develop properly. Heme is an impt part of hemoglobin- the molecule that carries the oxygen in the blood. Heme is found in the liver, blood,and bone marrow. Heme is also found in myoglobulins, proteins in certain muscles.


Alternative names

Acute intermittent porphyria; Hereditary coproporphyria; Congenital erythropoietic porphyria; Erythropoietic protoporphyria


Causes, incidence, and risk factors

Normally, the body breaks down chemicals, called porphyrins, into heme. The porphyrins leave the body through urine ; bile, stools and skin. But persons with porphyria have a genetic defect( gene mutation- enzyme deficiency ) that interrupts this process. As a result, porphyrins build up in the body. - accumulate in bone marrow, liver, skin, or other tissues and produce toxicities. These precursors may appear in excess in the blood; urine, bile and stools. This can lead to rashes ( photodermatitis), light sensitivity, abdominal pain, and other symptoms

Types of Porphyria

The major types of porphyria are each caused by mutations in one of the genes required for heme production. Forms of porphyria include ALAD deficiency porphyria, acute intermittent porphyria, congenital erythropoietic porphyria, erythropoietic protoporphyria, hepatoerythropoietic porphyria, hereditary coproporphyria, porphyria cutanea tarda, and variegate porphyria.

In addition to the genetic forms of porphyria, some cases of this disorder are caused by nongenetic factors such as infections or exposure to certain prescription drugs. These cases are described as sporadic or acquired porphyria.


The signs and symptoms of porphyria vary among the types. Some types of porphyria (called porphyrias cutaneous tarda is the most common and not inherited) cause the skin to become overly sensitive to sunlight. Areas of the skin exposed to the sun are fragile and easily damaged. Exposed skin may develop redness, blistering, infections, scarring, changes in pigmentation, and increased hair growth. Cutaneous tarda porphyrias include congenital erythropoietic porphyria, erythropoietic protoporphyria, hepatoerythropoietic porphyria, and porphyria cutanea tarda.

Other types of porphyria (called acute porphyrias) mostly affect the nervous system. Appearing quickly and lasting from days to weeks, acute signs and symptoms include abdominal pain, vomiting, constipation, and diarrhea. During an attack, a person may also experience muscle weakness, seizures, severe electrolyte imbalance, low blood pressure and shock; fever, loss of sensation, and mental changes such as anxiety and hallucinations. These symptoms can be life-threatening in rare cases, especially if the muscles that control breathing become paralyzed. Acute porphyrias include acute intermittent porphyria and ALAD deficiency porphyria. Two other forms of porphyria, hereditary coproporphyria and variegate porphyria, have a combination of acute symptoms and symptoms that affect the skin.



Additional medical problems associated with some types of
porphyria include a low number of red blood cells (anemia), enlargement of the spleen, abnormal liver function, and an increased risk of developing liver cancer.

Some people with the genetic changes that cause porphyria, particularly the acute forms of porphyria, never experience any features of this condition.


Environmental factors can strongly influence the occurrence and severity of signs and symptoms in some types of porphyria. Alcohol, smoking, certain drugs, hormones, such as estrogen exposure to sunlight, other illnesses, infections ,stress, and dieting or periods without food (fasting) can all trigger the signs and symptoms of these attacks.


Porphyrias result from genetic deficiencies of enzymes of the heme biosynthetic pathway. These deficiencies allow heme precursors to accumulate, causing toxicity. Porphyrias are defined by the specific enzyme deficiency. Two major clinical manifestations occur: neurovisceral abnormalities (generally the acute porphyrias) and cutaneous photosensitivity (generally the cutaneous porphyrias).


Etiology and Pathophysiology

Porphyrias result from a deficiency of any of the last 7 enzymes of the heme biosynthetic pathway (deficiency of the 1st enzyme in the pathway, δ-aminolevulinic acid [ALA] synthase, causing sideroblastic anemia).



Pathophysiology, gene mutation can be found in the site below:
:

http://ghr.nlm.nih.gov/condition=porphyria

Another link worth mentioning is the the site below which lists all symptoms,


http://www.nlm.nih.gov/medlineplus/ency/article/001208.htm

Simply put, porphyria is a autosommal recessive disorder usually inherited wherein the deficiency of certain enzyme prevents the synthesis or conversion of porphyrins into hemoglobin. producing toxicites. Porphyrins are complex molecules in the body that combine with iron to produce heme, which is responsible for giving blood its red color and combines with globin to form hemoglobin. Besides delivering oxygen through the body’s circulatory system, heme is important in metabolism and human physiology.

Porphyria is a genetic disease that is caused by an enzyme deficiency in heme production. Heme is synthesized from smaller molecules through several enzyme-catalyzed steps in a biochemical pathway. An enzyme deficiency in any of these steps inhibits heme production, causing porphyrins to accumulate and clog the pathway. The high level of porphyrins is responsible for the physical symptoms, such as port-colored urine, sensitivity to sunlight, and the mental instability that sometimes accompanies this disease. Attacks occur when porphyrins become elevated, depending on the patient’s tolerance. Alcohol, smoking, or prescription drugs that cause the body to respond by accumulating porphyrins can precipitate attacks.

Answer 2

Define Porphyria

Answer 3

basically what i got from reading was it is a basically when your doesnt make a certain substance the right way and there fore it causes certain symptoms depending on what part of the body it effects...

Porphyrias are a group of genetic disorders caused by problems with how your body makes a substance called heme. Heme is found throughout the body, especially in your blood and bone marrow, where it carries oxygen.

Porphyrias affect the skin or the nervous system. People with the skin type develop blisters, itching, and swelling of their skin when it is exposed to sunlight. The nervous system type is called acute porphyria. Symptoms include pain in the chest or abdomen, vomiting, and diarrhea or constipation. During an attack, symptoms can include muscle numbness, tingling, paralysis, cramping, and personality or mental changes. Certain triggers can cause an attack, including some medicines, smoking, drinking alcohol, infections, stress and sun exposure. Attacks develop over hours or days. They can last for days or weeks.

Porphyria can be hard to diagnose. It requires blood, urine and stool tests. Each type has a different treatment. It usually involves medicine, treatment with heme or drawing blood.

Answer 4

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Answer 5

Dude, I am a vampire and I don't have any of that stuff. No necrosis stuff, no blisters, my hair is pretty slow growing and my piss doesn't change color. The two things aren't the same.

Answer 6

http://en.wikipedia.org/wiki/Porphyria

this should help