Porphyria: Types, causes, and management

All types of porphyria are characterized by a slower than normal production of heme. Heme is an important component of the bloodstream.

Porphyria refers to a group of genetic disorders that can affect the nervous system or the skin.

1 in 10,000 people have the most common form of porphyria (porphyria cutanea tarda). Symptoms of the condition can range from changes in skin pigmentation to hypertension.

This article explains what porphyria is, how it is diagnosed, and ways to manage and prevent its symptoms.

Contents of this article:

1. What is porphyria?
2. Types of porphyria
3. Symptoms
4. Diagnosis
5. Management and prevention

What is porphyria?

Porphyria is a group of relatively rare metabolic disorders.

It is an inherited condition, meaning that an abnormal gene is passed on from one or both parents. It is not contagious and cannot develop through any other means.

Porphyria affects blood composition. All forms of porphyria slow the production of heme, which is used in hemoglobin and other chemicals that transfer oxygen through the bloodstream.

Heme is made from porphyrin, but people with porphyria are unable to fully convert porphyrin into heme. This means that porphyrin can accumulate in tissues and the blood, causing problems in the nervous system, skin, and other organs.

Types of porphyria

There are two main types of porphyria: acute and cutaneous.

Acute

Acute porphyria primarily affects the nervous system.

This type of the condition causes damage to nerve cells due to the build up of raw chemicals that are typically used to make heme.

It can also cause extreme discomfort. However, only 1 in 5 people who carry the gene for acute porphyria experience symptoms. Acute porphyria attacks are uncommon before puberty or after menopause.

Cutaneous

Cutaneous porphyria affects the skin and does not typically damage nerve cells.

In this type of porphyria, the build up of porphyrin causes oversensitivity to sunlight.

Cutaneous porphyria typically has less severe symptoms than acute porphyria does, but attacks tend to occur more often.

One type of cutaneous porphyria, porphyria cutanea tarda (PCT), can also be triggered by environmental factors, such as heavy alcohol consumption or iron supplements. For this reason, PCT is the most common form of porphyria.

Symptoms

One of the possible symptoms of porphyria is urine that
is an unusual color, particularly red or brown

Acute porphyria attacks can be severe and last up to 1 or 2 weeks.

Symptoms of acute porphyria may include:

• pain in the abdomen, chest, limbs, or back
• increased heart rate and blood pressure
• nausea and vomiting
• red or brown urine
• impaired movement of the limbs
• constipation
• electrolyte imbalances

Attacks of cutaneous porphyria typically occur as a result of exposure to sunlight and can last several days.

Symptoms of cutaneous porphyria can include:

• burning pain on the skin
• redness and swelling on the skin
• red or brown urine
• itching
• lasting blisters

Both forms of porphyria can cause long-term complications, including:

• liver or kidney failure
• high blood pressure
• breathing difficulties
• gallstones
• permanent skin damage
• muscle weakness
• paralysis

Diagnosis

Porphyria is usually diagnosed using blood, urine, or stool samples. In some cases, doctors may use CT scans or X-rays to help make a diagnosis.

Diagnosis is most accurate around the time of a porphyria attack, so it can take several tests to determine the type of porphyria.

It is common for a person to carry a gene for porphyria and never experience any symptoms associated with the disorder. In other cases, multiple attacks can occur, which may trigger long-term complications.

An early diagnosis is essential for handling the disorder and avoiding complications.

Unfortunately, there is no cure for porphyria, but it is possible to manage its symptoms.

Management and prevention

Glucose or heme injections may be used to treat porphyria.

Effective management of porphyria depends on which type a person has.

Ways to manage acute porphyria include:

• prescription or over-the-counter medications for pain, nausea, and vomiting
• intravenous glucose injections
• injections of hemin to reduce the production of porphyrin

Ways to manage cutaneous porphyria include:

• the removal of blood to reduce iron levels
• medications that absorb excess porphyrins
• medications that reduce skin sensitivity to sunlight

Since it is genetic, there is no way that a person can prevent porphyria from developing.

However, understanding certain environmental triggers can reduce the risk of an attack.

These include:

• certain antibiotics or medications
• stress
• excessive exposure to sunlight
• heavy consumption of alcohol
• use of recreational drugs
• dieting or fasting
• menstrual hormones
• excess iron levels

Triggers will vary from person to person. It may take time for an individual to discover their triggers for an attack.