What do high porphyrins mean?

What is this test? This test looks for chemicals called porphyrins in your urine. If you have high levels of these chemicals, you may have porphyria. Porphyria refers to a group of inherited or acquired diseases that prevent your body from correctly making heme, the pigment in red blood cells that contains iron.

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What causes high porphyrin levels?

Porphyria cutanea tarda (PCT) typically is acquired rather than inherited, although the enzyme deficiency may be inherited. Certain triggers that impact enzyme production — such as too much iron in the body, liver disease, estrogen medication, smoking or excessive alcohol use — can cause symptoms.

What does a porphyrins blood test look for?

This test is used to diagnose porphyrias . This is a group of rare disorders often passed down through family members. It may also be used along with other tests to diagnose lead poisoning and certain nervous system and skin disorders.

How are porphyrins excreted?

The porphyrin precursors and the initial porphyrins in the pathway (5-aminolevulinate, porphobilinogen, uroporphyrin, and coproporphyrin) are water soluble, circulate freely in the plasma, and are largely excreted in urine.

What can trigger porphyria?

Porphyrias are rare disorders that mainly affect the skin or nervous system. These disorders are usually inherited, meaning they are caused by gene mutations link passed from parents to children.

What kind of disease is porphyria?

The term porphyria describes a group of eight disorders that affect the skin and nervous system. Most of these disorders are inherited (passed down from family members). One type of porphyria, porphyria cutanea tarda (PCT), isn’t always inherited.

What drugs can cause porphyria?

In general, drugs that lead to increased activity of the hepatic P450 system, such as phenobarbital, sulfonamides, estrogens, and alcohol, are associated with porphyria.

How can I reduce porphyrins?

Periodically drawing blood (phlebotomy) to reduce the iron in your body, which decreases porphyrins. Taking a drug used to treat malaria — hydroxychloroquine (Plaquenil) or, less often, chloroquine (Aralen) — to absorb excess porphyrins and help your body get rid of them more quickly than usual.

How do you confirm porphyria?

Lab tests are required to make a definitive diagnosis of porphyria and to determine which form of the disease you have. Different tests are performed depending on the type of porphyria your doctor suspects. Tests include a combination of blood, urine or stool testing.

How is porphyria diagnosed?

Diagnosis and Tests

If doctors suspect you have porphyria, blood and urine tests screen for porphyrins and other porphyrin precursors. Feces (stool) tests may be necessary to confirm the diagnosis. Doctors also diagnose porphyria using genetic testing of a blood sample. This type of test is very accurate.

What are porphyrin precursors?

What happens to porphyrin when exposed to light?

Fluorescent substances, when exposed to light at certain wavelengths, emit light with a different wavelength. Porphyrins appear intensely red when exposed to long-wave ultraviolet light (UV-A). This makes them visible with a Wood’s lamp, and enables them to be measured accurately with a spectrofluorometer.

What does porphyria pain feel like?

The most commonly reported debilitating symptoms are diffuse severe pain affecting the abdomen, back, or limbs; other common attack signs and symptoms include nausea and vomiting, constipation, hypertension, motor weakness, insomnia, or anxiety [1–3, 5].

What medications trigger porphyria?

What part of the body does porphyria affect?

Some types of porphyria, called cutaneous porphyrias, primarily affect the skin. Areas of skin exposed to the sun become fragile and blistered, which can lead to infection, scarring, changes in skin coloring (pigmentation), and increased hair growth.

What part of the body is affected by porphyria?

Porphyria occurs when the body cannot convert compounds called ‘porphyrins’ into heme. While all tissues have heme, those that use it the most are the red blood cells, liver and bone marrow. Porphyria can affect the skin, nervous system and gastrointestinal system. More women than men are affected by porphyria.

How are porphyrins detected?

The porphyrin precursors porphobilinogen (PBG) and aminolevulinic acid (ALA) and porphyrins are readily measured in urine. Normal urine contains appreciable amounts of these substances, and different individuals may have widely different levels.

What color is urine in porphyria?

The terms porphyrin and porphyria are derived from the Greek word porphyrus, meaning purple. Urine from porphyria patients may be dark or reddish in color due to the presence of excess porphyrins and related substances, and may darken further after exposure to light.

What is the most common porphyria?

The most common type of cutaneous porphyria—and the most common type of porphyria overall—is porphyria cutanea tarda, which affects about 5 to 10 out of every 100,000 people. The most common type of porphyria in children is a cutaneous porphyria called erythropoietic protoporphyria.

What are the 8 types of porphyria?

The cutaneous porphyrias [Porphyria Cutanea Tarda (PCT), Hepatoerythropoietic Porphyria (HEP), Congenital Erythropoietic Porphyria (CEP), Erythropoietic Protoporphyria (EPP), and X-linked protoporphyria (XLP), present with blistering and scarring of the skin, pain, and/or redness and swelling in sun-exposed areas.

What tests are done to diagnose porphyria?

Does porphyria cause joint pain?

People who have acute porphyrias commonly suffer fatigue. This may be due to symptoms affecting muscles and joints (such as pain, numbness and weakness) and the sleep disturbance this may cause.

Does porphyria affect the brain?

Acute hepatic porphyrias (AHP) can cause severe neurological symptoms involving the central, autonomic and peripheral nervous system. Due to their relative rarity and their chameleon‐like presentation awareness among neurologists is low and delayed diagnosis and misdiagnosis are common.

How does porphyria affect the liver?

Liver problems
Porphyria cutanea tarda can damage the liver and increase the chance of developing cirrhosis and liver cancer. Some people with protoporphyria also develop liver damage and cirrhosis, and up to 5 percent of people with protoporphyria develop liver failure.

What do high porphyrins mean?