Porphyria – Symptoms, causes, diagnosis, and Treatment

Porphyrias are the inherited metabolic disorders of heme synthesis leading to the accumulation of porphyrin precursors. Hemoglobin needs porphyrin to improve its functions but largely having porphyrins can bring significant problems to your body.


As per medical professionals, porphyria is categorized into Acute porphyrias and cutaneous porphyria. Acute porphyria mainly affects the nervous system and the other one affects your skin. If any member in your family was diagnosed with any type of porphyria disorder in the past, then you have an increased risk of getting diagnosed with porphyria too.

There is no cure for this condition and the main objective of any type of treatment is to ease the symptoms of the disease.

What are the indicators of porphyria?

Some people with porphyria will have only mild symptoms while others may have severe or debilitating symptoms.

Seizures, severe pain in the abdomen, hypertension, pain in your chest, heart palpitations, pain in the legs, fast heartbeat, hard bowel movements, pain in the back, urination problems, nausea, difficulty in breathing or unable to breathe, vomiting, pain in the muscles, tingling, feeling nervous all the time, numbness, confusion, paralysis or weakness, red or brown urine, and hallucinations are considered as the symptoms of Acute porphyria’s. These symptoms can occur at any time to the people who are suffering from Porphyria’s disease.

Red or brown urine, sensitivity to the sun, excessive hair growth, sudden painful skin redness, blisters on exposed skin, itching, blisters on hands, blisters on arms, blisters on face, and fragile thin skin with alterations in skin color are the most common symptoms associated with cutaneous porphyria’s. It is the most common type of all the porphyria.

When to Consult a Physician

Consult your doctor or a physician immediately if you are experiencing any of the symptoms described above. Your doctor should evaluate you for other possible causes of your symptoms before treating the existing condition. Together, you and your doctor can determine the best way to manage your symptoms.

What are the causes of porphyria?

The main cause of porphyria is going to be Heme, and it is a component of hemoglobin. The main function of this component is to carry oxygen from the lungs and distribute it to all parts of your body. Family history of this disease is also considered as one of the main causes of this disease. For the proper function of a heme component, all the eight different enzymes should work perfectly. An improper function of an enzyme can lead to the cause of porphyria.

Heavy exposure to sunlight can cause cutaneous porphyria. Your skin will be more damaged when you are diagnosed with cutaneous porphyria. when it comes to acute porphyria, it damages the nervous system.

What are the risk factors of porphyrias?

Several well-established risk factors are triggering the condition. When a person exposed to trigger, the urge of the heme production in your body rises and it results in the shortage of different enzymes. Altogether, it can lead to the build-up of porphyrins.

Menstrual hormones, overuse of hormone medications, heavy exposure to sunlight, unable to quit alcohol, recreational medications, dieting or fasting, emotional stress, and increases the risk of infection and other illnesses can trigger the condition.

What are the complications of porphyria?

Complications depend on the severity of the condition.

Acute porphyria can put your life at risk if not treated promptly. It is important to get an accurate diagnosis and treatment. people suffer from a lot of problems during this attack. These problems include

  • Not having enough water levels in the body
  • Difficulty in breathing or shortness of breath
  • Seizures
  • High blood pressure

The above side effects are considered as the short-term complications and the long-term complications include

  • Chronic pain
  • Damage in the liver
  • Chronic kidney failure

Cutaneous porphyria can bring greater discomfort to your skin if left untreated and leads to permanent skin damage. Blisters present on your skin also infected. It is really important for the people who are suffering from cutaneous porphyria to consult a dermatologist to prevent further infections. In a rare scenario, this condition may leave permanent scars on your skin.

How is Porphyria’s diagnosed?

The diagnosis of this condition is one of the difficult parts. With the acute porphyria if the issue is severe abdominal pain or brain fog, and the extreme fatigue in the patient’s legs can lead to the other conclusion. Your physician does not think that it is porphyria. They may conduct a Magnetic resonance imaging test or they may do some more typical tests. There are no typical tests that point your physician towards a porphyria.

Measuring an A level of an enzyme to confirm the diagnosis of acute porphyria may be the best option for your physician. similarly, on the cutaneous side, your physician may test a patient’s blood to show that they are photosensitivity is related to a rare blood disease.

Your physician may recommend lab tests to confirm the diagnosis of porphyria. These tests include

  • Blood tests
  • Stool or urine testing
  • Genetic testing

What are the treatment options available for porphyria?

There are treatments for this which can include lifestyle alternations, non-prescription options as well as prescription medications.

Avoiding triggers is the best way to manage the symptoms of this condition. These triggers include quitting smoking, treating infections and illnesses, reducing the consumption of taking alcohol, and not exposing your body to sunlight are the best ways to avoiding the triggers of this condition.

Treatment for Acute Porphyria’s

The main objective of this treatment is to manage the symptoms of porphyrias. Your physician may recommend injections of hemin to decrease the production of porphyrins. It is advised to go the emergency care if you are experiencing the following symptoms

  • Severe pain
  • Vomiting
  • Dehydration
  • Difficulty in breathing or shortness of breath

Treatment for Cutaneous porphyria’s

The main objective of this treatment is to reduce the effect of sunlight on your body and also to limit the production of porphyrins.

Your physician may recommend you to take hydroxychloroquine drug to ease the symptoms of your condition. Along with this drug, your doctor may also recommend a dietary supplement.


Beta-blockers: Your healthcare provider may recommend beta-blockers to manage hypertension. Dizziness, hard bowel movements, weakness, upset stomach, feeling sleepy all the time, pain in the head, cold hands, dry mouth, dry skin, cold feet, dry eyes, difficulty in breathing or unable to breathe, unable to remember things or memory problems, sore throat, unable to maintain an erection, slow heartbeat, difficulty in sleeping or unable to sleep, and swelling of the hands or feet are the most common side effects of this drug.

Opioids: opioids are used in the management of pain. It is advised to stop drinking alcohol while you are on this medication. Hard bowel movements, nausea, feeling sleepy all the time, and vomiting are the possible side effects of opioids.

Lifestyle changes

A well-balanced diet, exercise, and maintaining a healthy body weight can reduce the chances of experiencing the symptoms associated with porphyria. It is better to identify what triggers the condition.

How to prevent this condition?

It is not possible to prevent this condition if it is causing due to the genes. However, you can prevent porphyria by avoiding triggers. These triggers include

  • Smoking
  • Alcohol consumption
  • Heavy exposure to sunlight


Porphyria can occur at any age and at any time. It is really important to identify the symptoms of this condition. Bad habits like smoking and drinking alcohol may increase the severity of symptoms. A discussion with your health care provider may help determine which option would be best for you to manage the symptoms of porphyria.


  1. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3113262/
  2. https://pubmed.ncbi.nlm.nih.gov/27982422/
  3. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3512229/
  4. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4279155/
  5. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5605422/
  6. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6601806/

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