Porphyria Definition, Reason, Symptoms, Treatment & Prevention
Definition
The term porphyria is used to describe a group of disorders caused by the buildup of porphyrins or naturally occurring chemicals that produce porphyrins in the body. There are at least eight abnormalities in this group.
Porphyrins are used by the body for the formation of hemoglobin, which is a type of protein in red blood cells that binds iron, and porphyrins, and helps deliver oxygen in the body. High levels of porphyrins in the body can cause various problems. Porphyria disease is relatively rare.
Symptoms
In some people, porphyria can occur without the appearance of symptoms first. Meanwhile, some other people may experience various symptoms, such as:
· Symptoms of cutaneous porphyria (on the skin)
- excessive sensitivity to sunlight
- blisters on an unprotected area of skin
- itching and swelling on unprotected skin areas
- excess hair growth on unprotected skin areas
Symptoms of acute porphyria:
- pain in the stomach
- pain in the chest, back, or limbs
- nausea and vomiting
- constipation (loose stools less than 3 times a week in adults and less than 2 times a week in children)
- urinary retention (inability to empty the bladder completely)
- confusion
- hallucinations
- muscle cramps and weakness
Several things can trigger complaints, such as:
- sun exposure
- several types of drugs
- diet or fasting
- smoking
- physical stress, such as illness or infection
- emotional stress
- alcohol consumption
- reproductive hormones (in women, bouts of porphyria are rare before puberty and after menopause)
Reason
Most cases of porphyria are caused by congenital abnormalities. Each enzyme needed in the heme formation process is regulated by a gene. If a person has an abnormal gene or mutation of a gene that regulates this enzyme, which is passed from one parent, they can have porphyria.
The process of forming heme from hemoglobin is called the heme biosynthetic pathway. This process is gradual, and each step requires one of eight enzymes to regulate the process. If there is a deficiency of one of the eight enzymes, the body will have difficulty forming heme.
Diagnosis
To confirm the diagnosis of porphyria, the doctor will first conduct a detailed medical interview and a thorough physical examination. Then the doctor can carry out investigations to ensure high porphyrin levels in the body.
Samples that can be used in this investigation are blood, urine, or feces. High levels of porphyrins or porphyrin-forming substances on examination confirm porphyria. Next, the doctor may recommend DNA testing to determine which gene mutation causes this disease.
Currently, there are eight types of porphyria, each of which is caused by a deficiency of certain enzymes, namely:
- delta-aminolevulinate-dehydratase deficiency porphyria: due to a deficiency of the enzyme delta-aminolevulinic acid dehydratase
- acute intermittent porphyria: due to deficiency of porphobilinogen deaminase enzyme
- hereditary coproporphyria: caused by a deficiency of the enzyme coproporphyrinogen oxidase
- variegate porphyria: caused by a deficiency of the enzyme protoporphyrinogen oxidase
- congenital erythropoietic porphyria: caused by a deficiency of the enzyme uroporphyrinogen III synthase
- porphyria cutanea: due to deficiency of the enzyme uroporphyrinogen decarboxylase
- hepatoerythropoietic porphyria: caused by a deficiency of the enzyme uroporphyrinogen decarboxylase
- erythropoietic protoporphyria: caused by a deficiency of the ferrochelatase enzyme
Treatment
One of the things that can be done in dealing with porphyria is to avoid triggers for attacks. For example by not taking drugs that trigger attacks, staying away from alcohol and cigarettes, avoiding strict diets and fasting, and minimizing sun exposure. It is also necessary to treat infections and illnesses and take steps to reduce emotional stress.
In cases of acute porphyria, drugs in the form of heme can be consumed to reduce the production of porphyrins in the body. Likewise with the provision of glucose to ensure adequate carbohydrate intake. If there are certain symptoms – such as severe pain, vomiting, or dehydration – the patient may require hospitalization.
Whereas in the case of cutaneous porphyria, treatment can be done by avoiding trigger factors, such as sun exposure and reducing the amount of porphyrins in the body.
This can be done with routine phlebotomy (routine blood sampling) which aims to reduce iron in the body which will reduce porphyrins. In addition, it is also necessary to consume anti-malarial drugs, such as hydroxychloroquine to absorb excess porphyrins. In people who avoid sun exposure, it is necessary to consider vitamin D supplementation.