Causes of Porphyria, Symptoms, Diagnosis, Treatment of Porphyria

Porphyria, a rare disorder involving certain enzymes in the body required for the production of heme pigment and porphyrins. It may be inherited or acquired. It is derived from a Greek word which means ‘purple pigment’ owing to discoloration of urine and feces when exposed to light during the attack. Two type of porphyria disease are present, which are cutaneous and acute. Cutaneous is associated with the skin involvement while acute produces neurological complications. These porphyrias may sometimes be present together simultaneously in the same person.

Porphyria cutanea tarda:

Porphyria cutanea tarda (PCT) is a term encompassing a collection of acquired and familial disorders in which movement of the heme synthetic enzyme uroporphyrinogen decarboxylase (UROD) is deficient.

Acute intermittent porphyria:

Acute intermittent porphyria (AIP) is an uncommon autosomal dominant [1] metabolic disease affecting the creation of heme, the oxygen-binding prosthetic collection of hemoglobin.


Porphyrias of at least eight different types exist owing to defect in different enzymes of the body responsible for heme production. Heme is an important iron containing pigment present in erythrocytes responsible for the transport and delivery of oxygen to different organs and tissues. Series of eight different steps involving different enzyme in each step, are responsible for normal production of heme in liver and bone marrow. Defect or deficiency of these enzymes disrupts the process leading to abnormal accumulation of large amount of porphyrins in the body. Porphyria Causes include inherited or acquired mutation in one or more genes. Most common pattern is transmission of faulty gene from parents to offspring. Acquired mutations result from a number of environmental factors. These include alcohol abuse, dieting and fasting, cigarette smoking and drugs such as sedatives, birth controls, transquilizers and barbiturates. Long term exposure to sunlight, hormones, chemicals, stress, excessive dietary iron intake and infections with HBV also trigger the mutations.


Porphyria symptoms depend upon its type. Erythropoietic or cutaneous porphyria is the type which is associated with skin disorders especially when exposed to sun. Skin may swell, blisters form, photodermitis, darkening and thickening of skin along with increased hair growth on forehead is seen. In acute or hepatic type of porphyria, neurological symptoms result. The onset is abrupt and last for several days or week. Due to faulty electrolyte balance, signs and symptoms of increased blood pressure, heart rate, severe abdominal pain, back, limb and chest pain along with tingling, vomiting, numbness, seizures, psychosis, agitation and confusion are found.  Urine on exposure to the sun, changes color to dark brown or dark red owing to the presence and oxidation of abnormal constituents (heme precursors) present in it in different forms of porphyria.


Porphyria diagnosis is based upon the biochemical findings and analysis of patient’s urine, stool and blood. Porphobilinogen level in urine is elevated in case of acute porphyria.


In case of acute fatal attack, patient should be hospitalized immediately and treatment should be initiated. No complete cure is present but symptomatic management of the condition prevents the disease progression. Analgesics and anti-emetics are prescribed for pain and vomiting. In porphyria treatment, patient is advised to eat carbohydrate enriched diet. In acute type, treatment with heme arginate and hematin is prescribed. For long term cimetidine is prescribed as prophylactic. Porphyria herbal product made up of rich Herbs and plants cure the condition proficiently without any side effects which are normally present with allopathic medications. Herbal mixture improves the condition within a short period of time by curing all the symptoms of the disease.


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