Porphyria is a group of diseases caused by imperfect heme formation. Heme itself is part of hemoglobin, the protein in red blood cells that carries oxygen from the lungs to the rest of the body.
Porphyria is divided into three types, namely acute, cutaneous, and mixed. Symptoms that can occur in each patient are different, depending on the type of porphyria suffered and its severity.
Causes of Porphyria
As explained earlier, porphyria is caused by an imperfect process of heme formation. Heme is formed through a chemical process that involves many enzymes. If the required enzymes are lacking, the formation of heme is incomplete.
This condition triggers the buildup of porphyrins, which are chemical compounds that make up heme. This porphyrin buildup is what causes porphyria symptoms. In most cases, this condition is inherited from parents.
Porphyria risk factors
There are also a number of other factors that can trigger porphyria, including:
- Use of certain medications, such as sulfonamide antibiotics, barbiturates, birth control pills, and anticonvulsants
- Certain diseases, such as liver disease, hepatitis C, and HIV
- Smoking habits or consuming alcoholic beverages
- Drug abuse
- Sun exposure
- Diet or fasting
- Menstruation
- Stress
Symptoms of Porphyria
The following are the symptoms of porphyria by type:
Acute porphyria
Acute porphyria generally causes symptoms related to the nervous system. Symptoms can appear immediately and be very severe, persist for several weeks, and improve gradually after the first attack.
There are 2 types of acute porphyria, namely: acute intermittent porphyria, which occurs more frequently, and aminolaevulinic acid dehydratase porphyria (plumboporphyria).
Some of the signs and symptoms of acute porphyria are:
- Muscle pain, stiffness, weakness, tingling, or numbness
- Pain in the chest, back, or legs
- Unbearable stomach ache
- Urine is reddish or brown in color
- Mental changes, such as anxiety, confusion, hallucinations, or fear
- Disturbance when urinating
- Respiratory disorders
- Heart rhythm disturbances (arrhythmias)
- High blood pressure
- Diarrhea or even constipation
- Nausea and vomiting
- Seizures
Skin porphyria
Skin porphyria shows symptoms in the skin due to sensitivity to sunlight, but does not affect the nervous system. Skin porphyria is divided into 3 types, namely: porphyria cutanea tarda (PCT), erythropoietic protoporphyria, and Gunther's disease (ccongenitalerythropoietic porphyria).
Symptoms that can appear in skin porphyria include:
- Burning sensation in the skin due to the skin being too sensitive to sunlight or other light
- Excessive hair growth in the affected skin area
- Skin becomes brittle with changes in skin color
- Reddened skin (erythema) and swelling
- Brown or reddish urine
- Blisters, especially on the face and hands
- Itchy rash
Mixed Porphyria
Mixed porphyria shows symptoms of acute porphyria and skin porphyria simultaneously, such as abdominal pain accompanied by complaints of the skin, nervous system, and mental changes. There are two types of mixed porphyria, namely: variegate porphyria and heditorial coproporphyria.
When to go to the doctor
Many of the symptoms of porphyria are similar to those of other diseases. Therefore, if you experience the above symptoms and your family has or has a history of porphyria, check with your doctor to confirm the condition. If treated quickly, the risk of complications due to porphyria can be prevented.
Diagnosis of Porphyria
In diagnosing, the doctor will ask the patient's symptoms and medical history, as well as perform a physical examination. After that, the doctor will conduct a follow-up examination to make the diagnosis more accurate. The follow-up examination includes testing of blood, urine, and stool samples.
Doctors can also perform genetic tests on patients and their families to determine the type of porphyria the patient has.
Porphyria Treatment
Treatment of porphyria depends on the type of porphyria and the severity of the patient's symptoms. Here is the explanation:
Treatment of acute porphyria
The goals of treatment for acute porphyria are to relieve symptoms and prevent complications. Treatment can be done by:
- Administration of hemin, which is a drug that resembles heme, by injection, to limit the production of porphyrins in the body
- Giving sugar (glucose) by mouth or injection, to maintain glucose levels in the patient's body
- Treatment in the hospital if symptoms of severe pain, dehydration, vomiting, and respiratory problems appear
Treatment of skin porphyria
Treatment of cutaneous porphyria focuses on reducing sun exposure and lowering porphyrin levels in the patient's body. Some of the treatments that can be given to treat skin porphyria are:
- Passing blood (phlebotomy) periodically, to reduce iron levels in the body which has an impact on reducing porphyrin levels
- Taking malaria medications, such as hydroxychloroquine or chloroquine, to absorb excess porphyrins more quickly
- Taking replacement supplements to overcome vitamin D deficiency due to lack of exposure to sunlight
To help with treatment and at the same time prevent symptoms from developing, patients can do the following:
- Don't smoke, drink alcohol, or use drugs.
- Do not use drugs that are known to trigger porphyria.
- Avoid diets and fasting that limit calorie intake.
- Avoid excessive sun exposure by wearing protective clothing and applying sunscreen cream to the skin.
- Treat infections and wounds with the right methods, and manage stress well.
Porphyria Complications
Each type of porphyria can cause different complications. In acute porphyria, complications that may occur include:
- Dehydration
- High blood pressure
- Respiratory disorders
- Chronic kidney failure
- Heart damage
- Seizures
While some of the complications that can arise due to skin porphyria are:
- Infection of the blistered skin
- The color and appearance of the skin becomes abnormal after healing
- Scar tissue in the affected skin area
- Permanent damage to the skin
Porphyria Prevention
It is not known exactly how to prevent porphyria. However, taking the following steps will lower your risk of developing porphyria:
- Consult your doctor first if you are going to use a drug or go on a diet.
- Regular health checks to the doctor, especially if you suffer from diseases that can trigger porphyria.
- Avoid smoking or consuming alcoholic beverages.
- Stay away from drug abuse.
- Protect yourself from exposure to the sun, for example by wearing long pants and long-sleeved shirts when you leave the house.
- Manage stress well.
