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Porphyria (poor-FEAR-e-uh) refers to a group of disorders that result from a buildup of natural chemicals that produce porphyrin in your body. The porphyrias are a group of metabolic disorders which is a term used when there is a problem with one of the chemical processes within the body. In the porphyrias, the chemical process that are affected is the one that produces a substance called heme. Heme is produced in the bone marrow and liver through a complex process regulated by eight different enzymes. [1]

Porphyrins and Heme

Heme is mainly made in the liver and in red blood cells and is used to make hemoglobin in red blood cells which is used to transport oxygen to the tissues in the body. This process is complex and has several steps; each step is controlled by a specific protein known as an enzymeand uses substances that are known as heme precursors. Porphyrins are important for hemoglobin function, which is a protein in the red blood cells and attaches porphyrin, moves oxygen into the organs and tissues, and binds iron. High levels of porphyrins can cause significant problems.[2]

Porphyria is commonly known as the "The Vampire Disease", however, it is a rare genetic blood disease. Porhyria prevents the body to replicate heme, a part of hemoglobin, which is an important component of red blood. Legend has it that an insufficient amount of heme was believed to cause a porphyriac to experience blood cravings, causing the sufferer of this disease to attack people or animals for their blood in crazed attempt to replace the heme their body could not generate [3], but this is not clinically true

Causes, Risk Factors, and Incidence

Most types of porphyria are inherited where one or both parents pass along an abnormal gene to their baby. That is, they are passed on in families through the genes. If you inherit a faulty gene you can develop porphyria. An exception to this is porphyria cutanea tarda. This type of porphyria may sometimes be genetically inherited in families. However, in many people there may be no family history. Some forms of porphyria, are influenced by environmental factors which trigger the development of symptoms.[2] In some cases porphyria can be triggered in susceptible people by exposure to certain medicines or chemicals, including birth control pills/hormones and alcohol (see below for more information).

Most types of inherited porphyria however, are passed on in families through what is called autosomal dominant inheritance. Briefly, this means that if you have porphyria (and therefore a gene that is faulty), each child that you have has a 50:50 chance of inheriting the faulty gene and also developing the condition.[4]

Porphyria cutanea tarda is the most common type of porphyria worldwide. It affects about 1 in 25,000 people in the UK. About 1 in 75,000 people have acute porphyria attacks. They may either have one of the acute porphyrias or they may have a mixed porphyria.[4]

Types of Porphyria

There are seven different types of porphyria and in most cases they run in families (are inherited). In each type, there is a lack of one of the special proteins (enzymes) which controls one of the steps in the making of haem (haem synthesis). This means that substances that are made during the process leading up to haem synthesis (including porphyrins) are overproduced and can build up within the body and cause symptoms. It is important that the type of porphyria that you have should be identified. [1]

Porphyrias can be classified in several ways. Classification according to the specific enzyme deficiency is the most accurate [1]

A simpler classification system distinguishes porphyrias as acute or cutaneous:

1. Acute porphyrias Porphyria has many different symptoms but the most common symptom for acute illness is severe abdominal pain. The nervous system is also often affected causing numbness in parts of the body and muscle weakness. Acute porphyria can also cause psychiatric characteristics such as mania, agitation, hallucinations and depression.[5]

Symptoms are described in detail below. If there are both nervous system and psychiatric problems these are sometimes put together and called neuropsychiatric problems.

The acute porphyrias include: •Acute intermittent porphyria. •Aminolaevulinic acid dehydratase porphyria (plumboporphyria).[5]

2. Cutaneous porphyrias This mainly affects the skin and includes: •Porphyria cutanea tarda. •Erythropoietic protoporphyria. •Congenital erythropoietic porphyria (also known as Günther's disease).[5]

3. Mixed porphyrias This kind of porphyria may cause symptoms of both cutaneous porphyria and acute porphyria. They can therefore cause abdominal pain, affect the skin and the nervous system and may also cause psychiatric problems. The mixed porphyrias include: •Variegate porphyria. •Hereditary coproporphyria. [5]


Many signs and symptoms of porphyria can be mistaken for other diseases that are more commonly seen. As Porphyria is one of the most rare diseases; primary care specialists find it difficult to clinically diagnose it as most family practice providers have never encountered patient cases in their professional practice before. The signs and symptoms can be so subtle that laboratory tests must be performed in order to clinically determine the specific type of porphyria an individual has.Outbreaks of symptoms of acute porphyria often require hospitalization. [6]

In many of the porphyrias of both types, the urine may take on a red or reddish brown discoloration. Sometimes the discoloration appears only after the urine has stood in light for about 30 minutes. [6]

Symptoms of Cutaneous Porphyria These symptoms occur when the skin is exposed to sunlight. The most commonly affected areas include the back of the: • Hands • Forearms • Face • Ears • Neck Other symptoms include: • Blisters • Itching • Swelling of the skin • Pain • Increased hair growth • Darkening and thickening of the skin [6]

Porphyria Attack Triggers

Common triggers include medicines (birth control pills and sedatives, tranquilizers, antibiotics, barbiturates and sulphonamide) physical and mental stress, hormonal changes during menstruation, alcohol use, dieting or fasting, smoking, and exposure to sun and excess iron in body, infections.[5]

Porphyria cutanea tarda (PCT) is often an acquired disease. Although the enzyme deficiency that causes this type of porphyia can be inherited, most people who inherit it never develop symptoms. Instead, the disease becomes active when the deficiency is triggered by certain conditions or lifestyle choices. These include: • Drinking alcohol • Excessive intake of iron • Hepatitis C • HIV • Smoking [5] Episodes of acute porphyria, which quite rarely occur before puberty, can be triggered by some drugs. These include: • Barbiturates • Tranquilizers • Birth control pills • Sedatives [5] Other triggers include: • Fasting • Smoking • Drinking alcohol • Infections • Menstrual hormones • Stress • Sun exposure [5]

Diagnosing Porphyria

"There are several tests that need to be performed in order to diagnose Porphyria but typically, they are first detected by a primary care provider (MD, DO, ARNP, or PA) and then if tests indicate a possible Porphyria diagnosis, then patients are referred to Hematology specialists who perform more comprehensive testing States Kimmer Collison-Ris a MSN and ARNP."

A Urine Test may show how high the levels of delta-aminolevulinic acids, porphobilinogen, and porphyrins. •Blood Tests can also detect a high level porphyrins inside of the blood plasma, in case of cutaneous porphyria. •Blood Gases. •Comprehensive Metabolic Panel. •A Stool Sample Test can show risen levels of porphyrins that might not be detected by urine samples. The Analysis of the stool sample test should also help in determining the specific form of porphyria that the patient has. •Abdominal Ultrasound. [2]


Flare ups of acute porphyria often require hospitalization. Patients often require specific medicine for severe nausea, vomiting, and pain. Additionally they often receive glucose or Panhematin injections which is the only heme therapy approved for use in the U.S. Severe attacks of acute porphyria can cause lifelong muscle weakness and nerve damage that can take months to improve. Treatment of cutaneous porphyria depends on the specific type and the severity of the symptoms. Outbreaks of symptoms of acute porphyria often require hospitalization. [5]

Severe attacks of acute porphyria can cause lasting nerve damage and muscle weakness that can take months to resolve. Treatment of cutaneous porphyria depends on the specific type and the severity of the symptoms. Treatment of porphyria cutanea tarda includes:

•Regular blood removal (phlebotomies) to reduce the amount of iron in the liver •Avoidance of triggers •Low doses of the antimalarial drug chloroquine or hydroxychloroquine •Treatment of any underlying condition such as HIV or hepatitis C •Stopping medications that may have triggered symptoms. •IV Hematin. •Medications for malaria such as hydroxychloroquine (Plaquenil) and chloroquine (Aralen). •Propranolol to control the heartbeat. •Sedatives to help with anxiety and insomnia. •Immediate treatment of infections or other illness which have triggered the symptoms. •Intravenous sugar (glucose) to maintain adequate carbohydrate level. •Beta-carotene supplements •Pain killers. •Glucose and fluids to maintain adequate carbohydrates. [7]

Lifestyle Changes for Porphyria

Depending on the type of porphyria, the following lifestyle changes will be recommended by your physician: •Avoiding those drugs that may trigger an attack. •Eating a diet which is rich in carbohydrates. •Staying away from sunlight as much as possible and using sunscreen whenever outdoors. •Abstaining from alcohol. •Avoiding any damage or injury to the skin.[8]


General video about the impact of porphyria on individuals. Retrieved from

Circulatory Diseases


  1. 1.0 1.1 1.2 Bonkovsky, Herbert. Overview of Porphyria Merck manual. Web. January 7, 2017.)
  2. 2.0 2.1 2.2 Mayo Clinic. [ Porphyria] Porphyria. Web. accessed January 7, 2017. )
  3. Vampire Disease xfiledisease. Web. last-modified November 6, 2010.
  4. 4.0 4.1 Genetics medaline plus. Web. last modified January 5, 2017.)Unknown author.
  5. 5.0 5.1 5.2 5.3 5.4 5.5 5.6 5.7 5.8 Porphyria Web MD. Web. accessed January 7, 2017. Unknown Author.
  6. 6.0 6.1 6.2 Shiel, William. Abdominal pain Medicine Net. Web. last modified January 8, 2015. )
  7. Grossman, Marc. Porphyria cutanea tarda Science Direct. Web. accessed January 7, 2017.)
  8. Kerkar,Pramod. Porphyria Pain Assist Inc.. Web. last modified May 2 , 2016.)