What is Porphyria?

Porphyria stands for a group of ailments thatresult in accumulation of chemicals called porphyrins in your body. Albeit porphyrins are normal body chemicals, it's quite abnormal for them to develop it. The cause is generally an inherited variation.

Porphyria basically attacks your skin cells or nervous system or may be both. The specific symptoms of porphyria are based on kind of your genes which is abnormal.

Treatment is administered on the type of porphyria you carry. Nevertheless, porphyria can't be cured, a few lifestyle changes may enable you handle your porphyria.

Symptoms of Porphyria

Porphyria is typically separated in two categories:

  • Acute Porphyrias: These involve forms of the disorder that cause largely nervous system symptoms and, in a few cases, skin symptoms also.
  • Cutaneous Porphyrias: These involve types of the disorder that causes skin signs because of excessive sensitivity to sunlight, but does not affect your nervous system.

Specific signs are based on kind of porphyria you are having, but general signs and symptoms of porphyria are as under:

Acute Porphyrias

  • Acute stomach ache
  • Constipation
  • Diarrhea
  • Seizures
  • Fever
  • Paranoia
  • Vomiting
  • Arms, legs or back pain
  • Muscle tingling, pain, numbness, weakness or often paralysis
  • Confusion
  • High blood pressure
  • Disorientation
  • Red urine

Cutaneous Porphyrias

  • Itchness
  • Blisters
  • Painful skin rashes (erythema)
  • Bulging skin (edema)
  • Red urine

Acute porphyria is rarely witnessed prior to puberty and post menopause. Some types of cutaneous porphyria start showing signs and symptoms during childhood.

Causes of Porphyria

Porphyria surfaces from a hindrance in production of a substance called heme.

Heme is present in all of your tissues, but the biggest amounts are in your bone marrow, red blood cells, and liver. Heme is a prominent component of hemoglobin that gives your blood its red color. It enables red blood cells to carry oxygen from your lungs to other parts of your body, and to bring carbon dioxide from other portions of your body to your lungs to allow it to exhale.

Most Forms are Inherited

Porphyrias are mostly inherited. Some types of the disease are inherited from a defective gene from one of your parents (autosomal dominant pattern). Yet another type may come from inheriting defective genes from both parents (autosomal recessive pattern). 
Common Causes may include:

  • Drugs (a few selected)
  • Smoking
  • Surgery
  • Alcohol use
  • Dieting or fasting
  • Sun exposure
  • Infections
  • Stress
  • Menstrual hormones
  • Excessive quantity of iron in your body

Complications Involved with Porphyria

Possible complications can be:

  • Dehydration
  • Breathing difficulties
  • Low sodium level in your blood
  • High blood pressure
  • Chronic Kidney Failure
  • Liver damage
  • Permanent skin damage

Tests and Diagnosis

Many symptoms of porphyria are identical to those of other general diseases. As porphyria's symptoms generally aren't unique, laboratory tests are needed to make a certain diagnosis of porphyria and to ascertain the type of the disease you have.

If your physician suspects porphyria, he recommends the following tests:

  • Urine Test
  • Blood test
  • Stool sample test

Treatments and Medications

Acute Porphyrias

Treatment of acute porphyrias emphasizes on eliminating symptoms. This may need hospitalization in acute cases. Treatment may include:

  • Stopping drugs that may have stirred symptoms
  • Pain killers
  • Prompt treatment of infections or other ailments that may have surfaced symptoms
  • Intravenous glucose to balance a right intake of carbohydrates
  • Intravenous liquids to fight dehydration
  • Hemin or hematin injections, drugs that is a type of heme, which can alleviate the burden placed on your body to generate heme, thus reducing porphyrin levels
Cutaneous Porphyrias

Treatment of cutaneous porphyrias emphasize on cutting down the amount of porphyrins in your body to assist eliminate your symptoms. This may include:

  • Phlebotomy: Phlebotomy involves taking a specific amount of blood from one of your arteries which reduces the iron in your body, and decreases porphyrins.
  • Activated Charcoal: It is taken orally, which can absorb excess porphyrins and enable your body to get rid of them faster than usual.
  • Beta Carotene: Treatment of cutaneous porphyrias may involve regular administration of beta carotene or other carotenoid.

Lifestyle and Home Remedies

  • You should know what could trigger symptoms.
  • Inform your health care providers about your condition.
  • Wear a medical information bracelet or card.


Nevertheless there is no way to prevent porphyria, if you have already contacted the disease you should take the following steps:

  • Avoid drugs potent to trigger acute attacks.
  • Avoid alcohol or illicit drugs.
  • Avoid dieting or fasting significantly calorie restriction programs.
  • Quit smoking.
  • Avoid sun exposure.
  • When going outdoors, wear protective clothing and apply sunscreen.
  • Treat infections and other illnesses immediately.
  • Cut down stress.

Because porphyria is a genetic disorder, your offspring and other members of your family should undertake genetic tests to determine the possibility of having the disease.