Porphyria

What Is Porphyria?

In most cases, you get porphyria because of an inherited gene mutation. It can cause nerve pain and a range of other symptoms.Porphyria is a disorder of either the skin or the nerves, and sometimes both. It occurs when a group of chemicals called porphyrins, which are normally present in the human body, accumulate at excessive levels.

Porphyrins include hemoglobin, the protein in red blood cells that carries oxygen to cells, tissues and organs. Porphyrins also provide the pigment in red blood cells.

The gene mutation that causes porphyria can disrupt the production of a substance known as heme. Heme exists in many parts of the body, but the largest percentage can be found in red blood cells, bone marrow and the liver. It usually affects women between 20 and 40 years old and men between 30 and 50.

There are two general categories of porphyria.

• Acute porphyrias affect the nerves and skin. These are known as neuron porphyrias and neurocutaneous porphyrias respectively.
• Cutaneous porphyrias don't affect the nervous system, instead resulting in symptoms that affect the skin, such as a high degree of sensitivity to light.

Symptoms of porphyria

Porphyria is not always easy to diagnose because the symptoms are similar to many other disorders.

Not everyone who has the genetic defect that produces some for of porphyria will exhibit symptoms. Sometimes porphyria is latent, in which case there are no signs or symptoms.

Porphyria symptoms depend on which gene is abnormal, but most of the time, symptoms are triggered by an external factor. These factors might include certain drugs or medications, alcohol use, dieting or fasting, exposure to the sun, an infection, smoking, stress and anxiety, and surgery.

In women, certain menstrual hormones may produce symptoms. An excessive amount of iron in the body can also be a factor.

Typical symptoms of acute porphyrias include

• severe pain in the abdomen (this is often the first sign)
• nerve related problems like seizures, tingling, numbness, weakness or paralysis
• constipation or diarrhea
• fever
• muscular pain and aches
• pain in arms, legs, neck or back
• paranoia, confusion, mental disorientation, and possibly even hallucinations
• vomiting

High blood pressure (hypertension) and urine that is dark and tinged with blood are other symptoms of porphyria.

It's unusual for acute porphyria to occur before puberty and after menopause.

Cutaneous porphyrias and neurocutaneous acute porphyrias often present these symptoms

• blisters
• edema
• itching
• reddish urine
• skin redness and discomfort

Some forms of cutaneous porphyria present symptoms as early as infancy or childhood.

Porphyria Treatments

Porphyria treatments, of course, depend on the type of porphyria you have. But if you experience the symptoms listed above, you should seek professional medical attention.

If you have a type of porphyria known as porphyria cutanea tarda or PCT, your doctor will probably recommend a phlebotomy. This means some of your blood will be collected to reduce your stores of iron. Other treatments to help decrease your sensitivity to sunlight.

Anyone with PCT should wear protective clothing and use sunscreen at all times.

Acute intermittent porphyria, or AIP, is relatively rare but can be extremely serious. It can quickly progress into a life-threatening illness requiring hospitalization and intensive care.

Patients may be treated with intravenous fluids, a high-carbohydrate diet, and medications that suppress porphyrin production.

Porphyria can't be cured, certain lifestyle changes may help you manage your it.