Porphyria: Types, symptoms, causes and treatment

What exactly is porphyria disease?

It is a rare disease affecting the skin and nerve system. These disorders are frequently hereditary, which means that they are caused by gene mutations that are passed on from parents to their children. Porphyria cutanea tarda (PCT) is a kind that isn’t necessarily hereditary.

This is an illness caused by a buildup of natural substances in your body that produce porphyrin. Haemoglobin is a protein in your red blood cells that attaches to porphyrin, binds iron, and transports oxygen to your organs and tissues. Porphyrins are required for haemoglobin’s activity. Porphyrin levels that are too high can create serious difficulties.

Although these cannot be cured, they can be managed by making lifestyle modifications to avoid triggering symptoms. Porphyria symptoms are treated differently depending on the type you have.

What are the different types of porphyria?

They are classified in a variety of ways by doctors. Doctors divide them into two general groups in addition to distinguishing each form.

• Acute type: They have a quick onset. Symptoms only last a short time, although they may reappear at any time. Acute type usually damages the neurological system. Its types are-
  • Delta-aminolevulinate-dehydratase deficiency porphyria
  • Acute intermittent porphyria
  • Hereditary coproporphyria
  • Variegate porphyria
• Cutaneous type: Four different forms of cutaneous types impact only the skin and produce long-term discomfort. After their skin is exposed to sunlight, people with cutaneous type may have skin symptoms such as blistering or discomfort.
  • Congenital erythropoietic porphyria
  • Porphyria cutanea tarda
  • Hepatoerythropoitic porphyria
  • Erythropoietic protoporphyria

What are the causes and risk factors?

Low levels of a specific enzyme required for the production of heme cause each type of porphyria disease. Porphyrin and porphyrin precursors build up in the liver, skin, and other body tissues when one or more of the enzymes needed to create heme is deficient. People may acquire porphyria symptoms of one of its forms when they build up.

Gene mutations cause the majority of this disorder. Some are caused by receiving a single gene mutation from one parent, whereas others are caused by inheriting two gene mutations, one from each parent.

Many persons with acute type gene mutations never experience the condition. Factors that enhance the risk of developing acute type attacks or worsening attacks in patients with these gene variants include:

• Progesterone and other female sex hormones
• Some drugs, such as hormonal birth control and antibiotics, anaesthetics, and anticonvulsants, are used to treat seizures
• reduced carbohydrate consumption as a result of fasting, dieting, illness, or bariatric surgery
• consuming alcohol, particularly excessive drinking
• smoking

Porphyria cutanea tarda, the most prevalent type, is acquired, which means it is caused by sources other than inherited genes. These elements could include:

• Hemochromatosis is a condition in which the body accumulates iron due to gene mutations.
• consuming a lot of booze
• smoking
• Hepatitis C and HIV are examples of viral illnesses.
• consuming oestrogen, which can be present in birth control tablets and other medications

Porphyria symptoms 

Porphyria symptoms differ based on the type. Minor to severe indications and symptoms are possible. These affect some persons without causing any symptoms. Porphyria symptoms might be life-threatening in some circumstances if not treated.

People who have cutaneous kind, which affects the skin, frequently have the following symptoms:

• Sunlight hypersensitivity
• Itching
• Swelling of skin exposed to sunlight
• Abrasions, skin blisters, and skin erosion
• Scarring of sun-exposed parts of the skin causes the skin to become brittle.

Acute type can disrupt the neurological system and create symptoms. These symptoms normally appear out of nowhere and last only a few minutes. Acute porphyria symptoms include:

• Abdominal, chest, arm, leg, or back pain
• Vomiting or nausea
• Constipation is a common complaint among people (difficulty passing stool)
• The retention of urine (inability to empty the bladder completely)
• Changes in mental condition, such as confusion and hallucinations
• Seizures
• Muscle deterioration.

How it is diagnosed?

There are many disorders that share the porphyria symptoms, making diagnosis challenging. Medical history and symptoms will be asked and a physical exam will be conducted. It is common for doctors to conduct testing to determine it.

1. Tests for porphyria disease

It measures the amount of porphyrins and porphyrin precursors in your blood and faeces. This helps to diagnose and monitor the condition. Your specific type of disease may require more tests to determine.

2. Mauzerall-Granick test

Porphyrins are a class of compounds that this test checks for in your urine. Porphyria urine may contain a variety of different compounds depending on the type you suffer from. Porphobilinogen, a precursor to porphyrins, may be high in your urine (PBG). Variegate or inherited type, as well as acute intermittent porphyria disease, could be referred to as this.

3. Genetic tests

These can be diagnosed using genetic testing that looks for gene alterations. Depending on the results, you may receive a second opinion on your diagnosis or learn more about your specific genetic variant.

How it can be treated?

Porphyria treatment depends on the type and severity of porphyria symptoms.

• Acute type

Acute events are usually treated in a hospital. Medications may be used to treat the symptoms, which usually last 3 to 4 days. Your doctor may advise you to take certain precautions to avoid future attacks.

1. Avoiding drugs that are harmful to patients: Before taking any over-the-counter or prescription medications, nutritional supplements, or complementary or alternative therapies like herbal or botanical medicines, see your doctor.
2. Avoid fasting or severe diets by eating a well-balanced diet.
3. Smoking cessation
4. Avoiding excessive alcohol consumption Women should have no more than one drink per day, while men should have no more than two drinks per day, according to experts.
5. Medications to assist lessen the number of attacks in the future. Some of the medications used to lessen the number of episodes might be rather expensive. Discuss your health insurance coverage with your doctor.
6. Doctors may recommend a liver transplant in certain circumstances.

• Cutaneous type

If you have a cutaneous type, your doctor will advise you to take efforts to protect your skin from the sun. Different therapies for different forms of cutaneous type may be prescribed by doctors.

1. It is commonly treated by phlebotomy, which includes extracting around a pint of blood every two weeks until the body’s iron levels have been decreased, or with medications. Doctors will prescribe regular blood tests to assess your iron and porphyrin levels during treatment.
2. Most people achieve remission after treatment, which means they no longer have porphyria symptoms when their skin is exposed to sunlight and their porphyrin levels return to normal. Doctors also advocate avoiding or removing elements that can induce porphyria cutanea tarda to help people go into and stay in remission.
3. Doctors may provide treatment that permits them to spend longer time in the sun without experiencing pain.
4. Doctors may consider a bone marrow transplant using healthy stem cells from a donor for some children with the congenital erythropoietic type who have severe symptoms.

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