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Porphyrias

The porphyrias are a group of genetic disorders that result from an inherited abnormal *heme biosynthesis pathway. Patients with porphyria have a reduced level of porphyrin synthesizing enzymes. This causes a reduction of normal enzyme activity and an accumulation of toxic metabolites in the system. This accumulation is responsible for many of the symptoms experienced by people who have porphyria.

The malfunction in enzyme activity that occurs in porphyria is exacerbated by ingestion of certain drugs – both pharmaceutical and recreational. These include alcohol, sulfonamides, barbiturates, phenytoin, estrogens and chloroquine. Exposure to chemicals such as hexachlorobenzene (a fungicide) can also affect porphyria and may be responsible for triggering the condition in some cases. Avoiding drugs, alcohol and chemical exposure is an important component of treatment.

There are 5 types of porphyria and these are classified into two different groups – the erythropoietic porphyrias (caused by accumulation of *hemoglobin) and the hepatic porphyrias (caused by accumulation of the P450 cytochrome, a liver enzyme).

At the Psoriasis & Skin Clinic we treat only two of the 5 types of porphyria: porphyria cutanea tarda and variegate porphyria. These both fall within the classification of hepatic porphyries. Please see your doctor for treatment of other types of porphyria.

Porphyria Cutanea Tarda
This is the most common form of porphyria. It is characterized by symptoms of blistering, scarring and erosion especially on the back of the hands. Hypopigmented and hyperpigmented macules are common and dark brown or black hairs develop on the temples, cheeks, trunk and extremities. The symptoms are a response to increased skin photosensitivity. Patients often complain of having “fragile skin” and symptoms frequently occur following minor trauma of the skin.

Variegate Porphyria
Variegate porphyria is characterized by both cutaneous (skin) symptoms and neurological symptoms. In areas exposed to sunlight, there is increased skin fragility with blisters, scarring and the growth of black or brown hairs. These symptoms are similar to those seen in porphyria cutanea tarda.

The neurological symptoms can affect any portion of the nervous system. Possible symptoms include delirium, personality changes, seizures, muscle weakness, confusion, depression, sensory loss and peripheral neuropathy. Neurological changes can also affect the digestive system with acute attacks of abdominal pain, constipation, nausea and vomiting possible.

Glossary :
* Heme: The iron holding constituent of hemoglobin. Gives hemoglobin its deep red colour.
* Hemoglobin: The substance in red blood cells that enables them to carry oxygen.