Fungal Skin Infection

What is porphyria? Causes, symptoms and treatment.

The term porphyria or porphyria describes a group of eight disorders that affect the skin and nervous system. Most of these disorders are hereditary (passed on from family members). Porphyria cutanea tarda (PCT) is a type of porphyria that is not always inherited.

How common is porphyria?

Porphyria is rare. Doctors do not know the exact number of people suffering from this condition, because many people have no symptoms of the disease.

What are the causes of porphyria?

Each type of porphyria is caused by low levels of a specific enzyme (each type of porphyria has a specific enzyme [chemical]) that is needed during the formation of heme. Heme is an iron-rich pigment that is important for all parts of the body. Heme is part of the hemoglobin in your blood. Hemoglobin carries oxygen to the body’s tissues and gives red blood cells their color. Heme is also a part of the liver protein that helps the liver function properly.

In the several-step process of making heme, several other compounds – called porphyrins and porphyrin precursors – are made. If levels of one of the enzymes needed to make heme are low, these porphyrins and porphyrin precursors accumulate in the liver, skin, and other tissues of the body. As they progress, people may develop symptoms typical of one of the types of porphyria.

What are the types of porphyria?

The specific names of eight types of porphyria are as follows:-

1. Delta-aminolevulinate-dehydratase deficiency porphyria

2. Acute intermittent porphyria

3. Hereditary coproporphyria

4. Variegated porphyria

5. Congenital erythropoietic porphyria

6. Porphyria cutanea tarda

7. Hepatoerythropoietic porphyria

8. Erythropoietic protoporphyria

Doctors classify porphyria in several different ways. In addition to defining each specific type, doctors also classify porphyria into the following two broad categories:

1. Acute porphyria – onset is rapid. Symptoms last for a short time, but they may return from time to time. Often, acute porphyria affects the nervous system.

2. Cutaneous porphyria – Only the skin is affected.

Doctors also classify porphyria on the basis of which body system becomes overactive:

1. Erythropoietic porphyrias – The bone marrow produces porphyrins in higher than normal levels.

2. Hepatic porphyrias – The liver makes too many porphyrins and porphyrin precursors.

What are the symptoms of porphyria?

Symptoms of porphyria vary depending on the type. Symptoms range from mild to severe. Some people with porphyria have no symptoms. In some cases, symptoms can be life threatening unless treated.

People with the cutaneous type of porphyria, which affects the skin, often experience symptoms including:

1. Excessive sensitivity to sunlight

2. Itching

3. Swelling of the skin due to exposure to sunlight

4. Scratches, skin blisters, skin erosion

5. Lesions on areas of the skin exposed to sunlight causing the skin to become fragile

Acute porphyria can cause symptoms that affect the nervous system. These symptoms usually occur suddenly and usually last for a short period of time. Symptoms of acute porphyria include the following: –

1. Pain in stomach, chest, arms, legs or back

2. Nausea or vomiting

3. Constipation (difficulty in passing stools)

4. Urinary retention (inability to completely empty the bladder)

5. Mental status changes, including delusions and hallucinations

6. Epilepsy

7. Muscle weakness

Who is most at risk for porphyria?

Porphyria often results from a genetic mutation passed from parent to child. You have a higher risk of getting porphyria if a parent has the disorder.

Unlike other types of porphyria, porphyria cutanea tarda (PCT) occurs when a dormant acquired disease such as hepatitis C or human immunodeficiency virus (HIV) becomes active in the body. Disease activity causes a deficiency of the enzymes needed to produce heme. Factors that trigger PCT include:

1. Smoking

2. Drinking alcohol

3.HIV

4. Chronic hepatitis C

5. High iron levels in the body

6. Estrogen containing drugs

Genetic changes resulting from hemochromatosis, a disease that causes excessive iron absorption in the body.

Symptoms of other types of porphyria can arise due to the following reasons: –

1. Smoking

2. Exposure to sunlight

3. Stress

4. Diet/Fasting

5. Using Estrogen

6. Medications, including barbiturates, tranquilizers, birth control pills, and sedatives

How is porphyria diagnosed?

Diagnosis can be difficult because the symptoms of porphyria can resemble those of many other diseases.

If doctors suspect that you have porphyria, a blood test screen and urine test screen for porphyrins and other porphyrin precursors. A stool test 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. Doctors often use it if family members are diagnosed with porphyria.

How is porphyria treated?

Treatment for porphyria depends on the type of porphyria you have and your symptoms.

For people with cutaneous porphyria, avoiding sunlight is key to recovery. Your doctor may also recommend that you avoid substances, such as alcohol, that trigger symptoms. Some people with cutaneous porphyria benefit from therapeutic phlebotomy (blood withdrawal). Drawing this type of blood reduces the amount of iron in the liver.

Treatment of acute porphyria includes intravenous (IV) heme or glucose infusion (adding heme or glucose directly into a vein). These treatments reduce the number of porphyrins or porphyrin precursors produced in the liver. Other drugs are under investigation and may become available through clinical trials. Ask your doctor if diagnostic testing should be considered for your specific type of porphyria.

Dietary changes, including eating foods high in carbohydrates and calories, also help manage symptoms.

Patients with acute porphyria who have severe symptoms or who have other types of porphyria may require more aggressive treatment to manage symptoms. Treatment options may include blood transfusions, surgery to remove the spleen, and liver and bone marrow transplants.

What complications are associated with porphyria?

For some people, erythropoietic porphyria causes liver failure. If this happens, a liver transplant may be a life-saving treatment.

Some types of acute porphyria cause muscle weakness. Muscle problems can be life-threatening if weakness affects the muscles that make respiration (breathing) possible. Hospitalization is required if porphyria affects the respiratory muscles.

Can porphyria be prevented?

Because genetic mutations cause most types of porphyria, the disorder cannot be prevented. However, you can avoid triggers that can cause symptoms. These triggers include smoking, alcohol consumption, and exposure to sunlight. Medications that may need to be avoided include barbiturates, tranquilizers, birth control pills, and sedatives.

Note, do not take any medicine without doctor’s advice. Self-medication is life-threatening and can lead to serious medical conditions.

 

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