Pathology

What is Porphyria



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Porphyrin is the precursor substance for heme which is one of the main ingredients of hemoglobin in red blood cells. The hemoglobin will facilitate the transportation of oxygen to the tissues and in its absence the body systems may collapse. In the case of porphyria, there can be a disruption to the enzymatic pathway leading to the formation of heme and therefore abnormal amounts of porphyrin begins to get accumulate in the blood. Although a certain amount of porphyrin is tolerable to the tissues, an excessive accumulation would lead to porphyrin toxicity. This condition is known as ‘porphyria’ and is thought to be inherited genetically and precipitated by several other triggers.

What are the causes that precipitate porphyria?

Although the gene mutations can be inherited either directly from one parent or from both, a person might not show signs of the disease as it only appears following a trigger or an event leading to excess demand for heme. This demand can be precipitated by, drugs, infections, surgeries, smoking, stress, alcohol, excess iron in the body or even dieting or fasting.

What are the types of porphyrias?

There are two main categories of porphyria and these are,

Acute porphyria Cutaneous porphyria

What are the symptoms of porhyria?

The acute porphyria is the condition which seems to be more severe and would manifest with systemic signs. It mainly affects the nervous system and could initially be manifested by severe abdominal pain, muscle and joint pain, nausea, vomiting, constipation, diarrhea, seizures, depression, hallucinations, confusion and sometimes fever.

The cutaneous porphyria on the other hand will have a milder presentation as it mainly affect the skin. There can be itching red patches on the skin as well as edema on certain areas. It is also possible to see blisters appearing on the skin as well.

How is it diagnosed?

The tests for diagnosis would range from basic chemical tests of blood, urine and feces along with more specific tests to determine the enzyme deficiencies. The presence of porphobilinogen in urine is a good indicator of the disease but, it may not be present in urine as its presence coincides with acute attacks.

In cutaneous porphyrias, the blood may show elevated levels of porphyrin whereas in certain instances, the stools can also show certain amount of elevated porphyrin levels.

What are the complications?

Complications of porphyria can be many and among them dehydration, liver failure, renal failure, low sodium levels, permanent skin damage…etc can considered the major ones.

What are the treatment options?

Treatment will consist of reducing the demand for heme production by providing the body with adequate amounts of heme as well as identify and eliminate the causative factors, if there are any. Thus, treating infections, providing enough fluids, providing more carbohydrates by means of glucose infusions, reducing stress levels can all be considered supportive measures. At the same time, medications may be needed to control the pain as well as seizures along with maintenance of adequate amounts of sodium in the circulation.

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