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Porphyria - Types, Symptoms, Causes, Diagnosis, Treatment and Prevention

Published on Sep 26, 2019 and last reviewed on Oct 03, 2019   -  5 min read

Abstract

Porphyria is a group of inherited blood disorders that result in reddish-purple urine and blisters on sun-exposed skin. Read more about this disease.

Contents
Porphyria - Types, Symptoms, Causes, Diagnosis, Treatment and Prevention

What Is Porphyria?

“Porphura” is an ancient Greek word which means purple, and porphyria is named after this word. Porphyrias are a group of blood disorders, which is rare and inherited, where people do not make heme properly. Heme is a component of hemoglobin that gives red blood cells (RBCs) the red color and helps them carry oxygen. Heme is made of porphyrin, which is bound to iron and occurs naturally in the body. This compound is also found in myoglobin, which is a protein found in muscles.

Porphyria patients lack the enzymes necessary to complete the process that is needed to produce heme. This results in the accumulation of porphyrin in tissues and blood, which causes various symptoms. Depending on which enzyme is missing in the body, the symptoms vary. Stomach pain, rash or blister due to light sensitivity, and muscle problems are the most common symptoms.

Porphyrias are mostly inherited, but rarely they are acquired. All types of porphyrias are inherited as autosomal dominant disorder except congenital erythropoietic porphyria (CEP), which is autosomal recessive. Some porphyrias result in severe and acute symptoms, while some are chronic and cause less severe symptoms.

What Are the Types of Porphyria?

The two main types of porphyria are:

It can also be classified into:

The most common type of porphyria is porphyria cutanea tarda (PCT).

What Are the Symptoms of Porphyria?

Depending on the severity, type, and individual, the symptoms of porphyria can vary widely. Some of the common symptoms include:

Acute porphyrias:

Cutaneous porphyrias:

Hepatic porphyria:

Erythropoietic porphyria:

What Causes Porphyria?

As most types of porphyria are inherited, they are genetic. It can be either:

  1. Autosomal dominant - When you inherit a defective gene from one of your parents.

  2. Autosomal recessive - When an individual inherits defective genes from both parents.

Some people have the gene or genes but do not show any symptoms.

There are some types of porphyrias that are acquired and not inherited. PCT (porphyria cutanea tarda) is an example of the acquired form, but the enzyme deficiency may be inherited.

What Are the Risk Factors for Porphyria?

Some factors that can trigger symptoms are:

Risk Factors for Porphyria

What Are the Complications of Porphyria?

Some of the complications of porphyria are:

How Is Porphyria Diagnosed?

As the signs and symptoms of porphyria are similar to some common diseases, tests are done to rule out all other possible conditions. Your doctor might suggest you take tests like computed tomography (CT) scans, chest X-rays, and echocardiogram (EKG) to rule out physical problems. You might also need blood and urine tests.

How Is Porphyria Treated?

There is no specific treatment for porphyria. Treatment is done by avoiding triggers and treating symptoms.

Acute porphyrias -

Cutaneous porphyrias -

For hepatic disease:

For erythropoietic disease:

Can Porphyria Be Prevented?

There is no sure way to prevent this disease, but preventing some triggers can help prevent

Frequently Asked Questions


1.

When was porphyria discovered?

Dr. J.H. Schultz was the first person to record a case of a 33-year-old male who had reddish urine, skin sensitivity, and an enlarged spleen. At that time he called the condition pempigus leprosus. Later on, Dr. Schultz was credited by giving the disease the name porphyria.

2.

Which drugs cause porphyria?

Some of the drugs that can cause porphyria are:
- Hormonal drugs containing Estrogen.
- Anesthetics.
- Anticonvulsants.
- Barbiturates.
- Some antimicrobials like Clindamycin, Erythromycin, and Ketoconazole.

3.

Does porphyria mean purple?

Porphyria is derived from the word “porphura,” which means purple in ancient Greek. Porphyrin is the byproduct of hemoglobin metabolism. In porphyria, this porphyrin accumulates in the body giving the urine reddish-purple color.

4.

Does porphyria cause blue urine?

Porphyria usually causes the urine to turn reddish-purple in color and not blue. Bluish discoloration of urine can be due to food coloring or a sign of bacterial infection.

5.

How long does a porphyria attack last?

Acute attacks of porphyria can last for a few days to weeks. But if it results in nerve and muscle damage, then it can take longer to get better.

6.

Is porphyria contagious?

No, porphyria is not contagious. It is a rare inherited condition, so it can only be passed on in the genes.

7.

Can porphyria cause mental illness?

Porphyria can affect mental health, as it can lead to anxiety, restlessness, paranoia, insomnia, confusion, and hallucinations.

8.

Which porphyria is most common?

The most common type of porphyria is porphyria cutanea tarda (PCT). This primarily affects the skin. It causes painful blisters and lesions on sun-exposed skin.

Article Resources

Last reviewed at:
03 Oct 2019  -  5 min read

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