Learn About Porphyria?


Porphyria is a rare hereditary disease where hemoglobin in the blood is not metabolized properly.  This causes a buildup of natural chemicals that produce porphyrin in your body, and at high levels this porphyrins can cause a wide array of issues in the body.  Although porphyrins are essential for the function of hemoglobin having very high concentrations of them are not healthy.  The effect of this disease is mainly seen in the nervous system and in the skin.  The signs of the disease vary according to the severity and type of porphyria which you are affected by.   The same goes for treatment of the disorder.  It depends on the type and severity.   Porphyria is usually inherited, but cannot usually be cured.  Lifestyle changes, however, could be the answer to managing the condition.

What are the symptoms of a porphyria?

There are two different groups that the porphyrias falls into.  These are acute porphyrias and cutaneous porphyrias.   Each group has its own specific symptoms.  In acute porphyria, the disease typically causes nervous system symptoms.  In cutaneous porphyria, the disease usually causes skin symptoms because of an oversensitivity to sunlight, without the effects on the nervous system.

Acute porphyria

·       Severe abdominal pain

·       Swelling of the abdomen

·       Pain in your chest, legs or back

·       Constipation or diarrhea

·       Vomiting

·       Insomnia

·       Heart palpitations

·       High blood pressure

·       Anxiety or restlessness

·       Seizures

·       Mental changes, such as confusion, hallucinations, disorientation or paranoia

·       Breathing problems

·       Muscle pain, tingling, numbness, weakness or paralysis

·       Red or brown urine

Cutaneous porphyria

·       Sensitivity to the sun and sometimes artificial light, causing burning pain

·       Sudden painful skin redness (erythema) and swelling (edema)

·       Blisters that take weeks to heal

·       Itching

·       Fragile skin

·       Scars or skin color changes from healing blisters

·       Increased hair growth

·       Red or brown urine

What causes porphyria?

Porphyria is most often caused by an inherited gene mutation in one of the genes involved in heme production.  The heme is the part of the hemoglobin protein in red blood cells which helps carry oxygen from the lungs throughout the rest of the body. Although most forms of porphyria are inherited, it can also occur due to environmental factors, but this is a much less likely cause.

Who is at risk for porphyria?

Although the most prominent risk factor for porphyria is genetics, certain drugs or environmental factors can also play a part.  These include:

·       Chemicals

·       Dieting or fasting

·       Smoking

·       Physical stress, such as infections or other illnesses

·       Liver disease

·       Emotional stress

·       Alcohol use

·       Menstrual hormones

·       Sun exposure

·       Excess iron in your body


What are the complications of a porphyria?

 Some of the most common complications of this illness include the following:

·       Dehydration

·       Breathing difficulties

·       Hyponatremia, orlow sodium in the blood

·       Hypertension, or high blood pressure

·       Chronic kidney failure

·       Liver damage

·       Permanent skin damage