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.
“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.
Acute - It primarily affects the nervous system, as it causes damage to nerve cells due to the build-up of chemicals that are used to make heme. Only 1 in 5 people experience symptoms, and the symptoms are usually not seen before puberty or after menopause.
Cutaneous - This type affects the skin. Here, the build-up of porphyrin causes rashes and blisters on the skin to sunlight (photosensitivity). It is less severe than acute porphyria and is more common than the acute type.
It can also be classified into:
Hepatic - These types of porphyrias are associated with liver problems. The subtypes include:
Acute intermittent porphyria (AIP).
Hereditary coproporphyria (HCP).
Variegate porphyria (VP).
Aminolevulinic acid dehydratase deficiency porphyria (AVADDP).
Porphyria cutanea tarda (PCT).
Erythropoietic - These types are caused due to problems in RBCs. The subtypes are:
X-linked dominant protoporphyria (XLDPP).
Congenital erythropoietic porphyria (CEP).
Erythropoietic protoporphyria (EPP).
The most common type of porphyria is porphyria cutanea tarda (PCT).
Depending on the severity, type, and individual, the symptoms of porphyria can vary widely. Some of the common symptoms include:
Severe stomach pain.
Pain in the chest, legs, and back.
Constipation or diarrhea.
Tingling sensation in the muscles.
Muscle weakness, numbness, or paralysis.
Red or brown discoloration of urine.
Burning sensation in the skin on exposure to the sun or artificial light.
Spontaneous skin redness and swelling, which can be painful.
Blisters on hands, arms, and face
The skin becomes thin and fragile.
Change in skin color.
Excessive growth of hair in affected areas.
Red or brown discoloration of urine.
Pain in arms and legs.
Sun exposure results in erratic behaviors.
Change in skin color or pigmentation.
As most types of porphyria are inherited, they are genetic. It can be either:
Autosomal dominant - When you inherit a defective gene from one of your parents.
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.
Some factors that can trigger symptoms are:
Too much iron in the body.
Too much stress.
Dieting and fasting.
Some of the complications of porphyria are:
Permanent skin scarring.
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.
There is no specific treatment for porphyria. Treatment is done by avoiding triggers and treating symptoms.
Acute porphyrias -
Hemin Injections - It is a form of heme, which limits the production of porphyrins.
Intravenous or oral glucose - Helps to maintain the required intake of carbohydrates.
Hospitalization - To treat severe symptoms like severe pain, dehydration, and breathing difficulties.
Cutaneous porphyrias -
Phlebotomy - To reduce the iron content, blood is drawn periodically, which also reduces the concentration of porphyrins.
Antimalarial drug - Hydroxychloroquine or Chloroquine is used to absorb excess porphyrins.
Vitamin D supplements - For vitamin D deficiency, as patients tend to avoid sunlight.
For hepatic disease:
Beta-blockers for hypertension.
A diet that is rich in carbohydrates.
Opioids for pain relief.
Hematin to shorten the length of attacks.
For erythropoietic disease:
Transfusion of blood.
Iron supplements for anemia.
Bone marrow transplantation.
There is no sure way to prevent this disease, but preventing some triggers can help prevent
Avoid using medications that trigger acute attacks.
Do not consume alcohol or recreational drugs.
Do not fast and diet.
Do not take hormonal drugs containing Estrogen.
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.
Some of the drugs that can cause porphyria are:
- Hormonal drugs containing Estrogen.
- Some antimicrobials like Clindamycin, Erythromycin, and Ketoconazole.
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.
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.
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.
No, porphyria is not contagious. It is a rare inherited condition, so it can only be passed on in the genes.
Porphyria can affect mental health, as it can lead to anxiety, restlessness, paranoia, insomnia, confusion, and hallucinations.
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.
Last reviewed at:
03 Oct 2019 - 5 min read
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