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Disease: Porphyria Porphyria
Category: Blood diseases & tumors
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Disease Definition:

Porphyria, often results from an inherited mutation, refers to a group of disorders causing chemicals known as porphyrins to buildup in the body. It isn’t a normal condition for porphyrins to buildup, even though they are normal body chemicals.

This condition typically affects the nervous system or skin or both. Porphyria has particular signs and symptoms depending on which of the genes turns out to be abnormal, and according to the kind of porphyria, treatement could be determined. Even though this condition doesn’t have a cure, some lifestyle changes might control porphyria.

Work Group:

Prepared by: Scientific Section

Symptoms, Causes


In general, porphyria can be divided into two categories:

Acute porphyrias: Predominantly nervous system symptoms (neuron porphyrias) might result from acute porphyrias and, in some cases, skin symptoms (neurocutaneous porphyrias), as well.

Cutaneous porphyrias: These include types of the disease that results in skin symptoms as the outcome of oversensitivity to sunlight, only the nervous system is not affected
Specific signs and symptoms depend on the type of porphyria the patient has, but common signs and symptoms of porphyria include:

Acute porphyrias



  • Constipation
  • Vomiting
  • Fever
  • Severe abdominal pain
  • Confusion
  • Diarrhea
  • Hallucinations
  • Muscle pain, tingling, weakness, paralysis or numbness
  • Red urine
  • Pain in the arms, legs or back
  • High blood pressure
  • Paranoia
  • Seizures
  • Disorientation

Cutaneous porphyrias and neurocutaneous acute porphyrias


  • Painful skin redness (erythema)
  • Red urine
  • Itching
  • Blisters
  • Skin swelling (edema)


Acute porphyria attacks rarely happen before puberty and after menopause. Signs and symptoms of some forms of cutaneous porphyria appear during infancy or childhood.
Porphyria results in signs and symptoms resembling other, more common conditions that could make it harder to be aware of porphyria attack. Seeking immediate medical care is necessary in the case of having the following signs and symptoms.

Acute porphyria
An episode of acute porphyria usually starts with severe abdominal pain, sometimes associated with vomiting or constipation. Additionally, common signs and symptoms of acute porphyria include disorientation, muscle pain and confusion. Consulting a doctor would be wise when experiencing any of the signs and symptoms of acute porphyria.

Cutaneous porphyria
Within minutes of sun exposure, Itching, skin swelling, blisters and painful skin redness appear as signs and symptoms in both cutaneous and neurocutaneous porphyria.

Also see the doctor if the urine appears red, which can be a sign of either type of porphyria.


A disruption in the body’s substance production ــ that is known as heme  ــcauses porphyria.
Heme is found in all of a person’s tissues. Yet, the largest amount of heme exists in the red blood cells, liver and bone marrow. Heme is a major component of hemoglobin, a red, iron-rich protein that gives the blood its red color. Hemoglobin enables red blood cells to carry oxygen from the lungs to all parts of the body in addition to carrying carbon dioxide from other parts of the body to the lungs to be exhaled.
Eight enzymes convert chemicals known as porphyrins into heme.  
An enzyme deficiency results from an inherited mutation known as porphyria of the genes involved in heme production lead to the accumulation of porphyrins in the body.

Most forms are inherited
Most forms of porphyrias are inherited. Certain forms of the disease result from inheriting a defective gene from one of the parents (autosomal dominant pattern). Other forms could be the outcome of inherited defective gene from both parents (autosomal recessive pattern). One or more of the enzymes involved in the process of converting porphyrins to heme to be abnormal result in the above mentioned gene defects.

Signs and symptoms won’t be exhibited simply because one has a genetic defect that causes porphyria. A person might develop latent porphyria and yet, never experience any signs and symptoms.
An environmental factor could trigger the development of signs and symptoms in certain types of porphyria, the body’s demand for heme production increases in the case of exposure to the trigger. This overwhelms the deficient enzyme, setting in motion a process that causes the signs and symptoms. Common triggers include the followings:


  • Infections
  • Medications (barbiturates and sulfonamide antibiotics are most frequently brought up, while others like tranquilizers, sedatives and birth control pills might also cause symptoms)
  • Alcohol use
  • Smoking
  • Sun exposure
  • Dieting or fasting
  • Menstrual hormones
  • Surgery
  • Extra iron in the body
  • Stress



Possible complications of porphyria include:

Dehydration: An attack of acute porphyria causing vomiting could result in dehydration that might require fluids to be taken through of a vein (intravenously).

Breathing Difficulties: Muscle weakness and paralysis might result from acute porphyrias which can cause breathing problems in addition to respiratory failure if left untreated.

Low Sodium in the Blood: Also known as hyponatremia, this is usually linked to sodium and water handling problems in the body. But, in rare cases, low blood sodium may be a sign that porphyria has damaged the kidneys.

High Blood Pressure: The buildup of porphyrin could damage the kidneys and cause high blood pressure (hypertension).

Chronic Kidney Failure: The kidneys could gradually lose their function with time due to the buildup of porphyrin. The last stage for kidney disease takes place when kidney function is at less than 10 to 15 % of normal capacity that might often need dialysis or a kidney transplant.

Liver Damage: Certain forms of porphyria result in excessive porphyrins in the liver which may lead to severe liver damage, in which case liver transplant might eventually be needed.

Permanent Skin Damage: When the skin heals after cutaneous porphyria, it may have abnormal bumps (milia) and coloring (pigmentation). Scars may remain on the skin as well, and lasting skin problems may cause your hair to fall out.


Acute porphyrias
In severe cases, hospitalization might be necessary. Treatment of acute porphyrias focuses on eliminating symptoms, such as:



  • Medication to control pain
  • Intravenous fluids to combat dehydration
  • Stopping medications that might have triggered symptoms
  • Hemin or hematin (heme arginate) injections, medication that is a form of heme that could decrease the burden placed on the body to produce heme, thus lowering porphyrin levels.
  • Immediate treatment of infections or other disease that might have caused symptoms
  • Intravenous sugar (glucose) to maintain an adequate intake of carbohydrates


Cutaneous porphyrias
Treatment of this condition focuses on decreasing the amount of porphyrins in the body to help eliminating the symptoms, such as:

Phlebotomy: Drawing some blood from one of the veins is involved in phlebotomy. This reduce the iron in the body, the thing which decreases porphyrins. Undergoing this procedure for several times might be required before cutaneous porphyria goes into remission.
Activated Charcoal: Excess porphyrins could be absorbed with this medication when taken orally in addition to helping the body remove them in an unusually fast manner. Cholestyramine is used for this purpose as well.
Beta Carotene: Cutaneous porphyrias might be treated for a long period of time using daily doses of beta carotene or other carotenoid like canthaxanthrin. Beta carotene that might increase the skin’s tolerance to sunlight is changed into vitamin A in the body, that is important for healthy eyes and skin.


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