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Porphyria Disease
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Know Everything About Porphyria Disease

What Is Porphyria?

Porphyria disease is a group of eight disorders that impact your skin and nervous system. Though most porphyria disorders are inherited, porphyria cutanea tarda (PCT) is not an inherited disease. There is no permanent cure for porphyria; you can manage the symptoms with various treatment methods.

Porphyria is a rare condition, only 200,000 people in the USA have this disorder.

Porphyria Causes

Porphyria is a condition related to how your body produces an element called heme. Heme is part of the “hemoglobin” in your blood. It is a protein that transports oxygen from the lungs to the rest organs of your body.

Your blood gets red-colored due to the iron in the heme. Heme is produced in your liver and bone marrow. A plethora of enzymes play a pivotal role in the process. In the case of porphyria, your body doesn’t have adequate enzymes. As a result, certain chemicals, called porphyrins, get accumulated. The type of porphyria is related to the specific enzyme that your body deficiencies.

Porphyria Disease

Most porphyria disorders are inherited. You may receive a mutated gene (either from one of your parents or both) that leads to the disease.

Certain conditions that may trigger Porphyria cutanea tarda porphyria or porphyria cutaneous are:

  • Drinking excessive alcohol
  • Estrogen use by women
  • Hepatitis C
  • HIV
  • Smoking

 

Acute porphyria hardly occurs before puberty and it can start by taking some types of drugs including:

  • Barbiturates
  • Sulfa antibiotics
  • Birth control pills
  • Seizure medicines

 

Other things that can stimulate acute porphyria are

  • Fasting
  • Smoking
  • Drinking alcohol
  • Infections
  • Menstrual hormones
  • Stress
  • Being in the sun

 

Types of Porphyria

Eight types of porphyrias are there and they could be:

  • Delta-aminolevulinate-dehydratase deficiency porphyria
  • Acute intermittent porphyria
  • Hereditary coproporphyria
  • Variegate porphyria
  • Congenital erythropoietic porphyria
  • Porphyria cutanea tarda
  • Hepatoerythropoietic porphyria
  • Erythropoietic protoporphyria

 

The doctors also segregate porphyria into two wide classes.

  • Acute Porphyrias: Though symptoms of this porphyria don’t last a long time, they often return after some time. This porphyria attacks the nervous system.
  • Cutaneous Porphyrias: This type of porphyria affects your skin only.

 

Doctors also divide porphyria by which the body system becomes overexcited.

  • Erythropoietic Porphyrias: Here your bone marrow makes porphyrins higher than normal.
  • Hepatic Porphyrias: The liver produces too many porphyrins and porphyrin precursors.

 

Porphyria Symptoms

The symptoms depend on the type of porphyria.

Symptoms of Acute Porphyria

In this type of porphyria, symptoms develop quickly and may stay for days or weeks. There could be a salt imbalance in your body along with this type of porphyria.

The symptoms are:

 

Sometimes, you may get depression or other mental disorders. You could also feel agitated, confused, or get seizures.

Some complications of this type of porphyria are:

 

Symptoms of Cutaneous Porphyria

This type of porphyria occurs when your skin is exposed to sunlight. The most commonly affected areas are the face and the back of the:

  • Hands
  • Forearms
  • Ears
  • Neck

 

Some symptoms that may appear on your skin are,

  • Blisters
  • Itching
  • Swelling
  • Pain
  • More hair growth
  • Darkening and thickening

 

Porphyria Diagnosis

It could be an arduous job for your doctor to diagnose porphyria because the symptoms are similar to other diseases. Your doctor may recommend skin, blood or stool tests to get a diagnosis. By performing multiple tests, your doctor can understand which specific type of porphyria you have. Your doctor may recommend going for a genetic test as this is a genetic disorder.  

Porphyria Treatment

Based on the severity of the symptoms, you need to choose the proper treatment methods. The right treatment methods will help you in identifying and avoiding symptom triggers.

Avoiding triggers may include,

  • Avoid medications that may trigger acute attacks
  • Don’t use alcohol and other recreational drugs
  • Stay away from fasting and dieting that restrict calorie consumption
  • Quit smoking
  • Avoid hormonal medications to prevent premenstrual attacks.
  • Minimizing sun exposure (while staying outside, you must use sunscreen that contains zinc oxide)
  • Use window filters inside your home
  • If you are having any infections or diseases, treat them promptly
  • Reduce stress

 

Acute Porphyrias

Acute porphyria treatment methods could be,

  • Hemin injections (a medication which is a form of heme) restrict the body’s production of porphyrins
  • Intravenous sugar (glucose) or sugar taken by mouth (to maintain sufficient intake of carbohydrates)
  • If you have symptoms like severe pain, vomiting, dehydration or problems breathing, then you should get admitted to a hospital
  • In 2019, the FDA approved givosiran (Givlaari) (a monthly injection for adults) for acute hepatic porphyria to minimize the number of porphyria attacks. But before using this injection, talk to your doctor and know more about the safety information.

 

Cutaneous Porphyrias

The treatment methods are:

  • The blood needs to be drawn (phlebotomy) from your body to lessen the iron in your body which decreases porphyrins
  • Take a drug that treats malaria. Drugs like hydroxychloroquine (Plaquenil) and chloroquine (Aralen) may absorb excessive porphyrins and help you to get rid of them more quickly than usual.
  • A dietary supplement to replace vitamin D deficiency

 

Porphyria Complications

Complications of acute porphyria are:

 

Complications of cutaneous porphyria are:

  • Skin infection
  • Discoloration
  • Delicate skin
  • Scars

 

Acute porphyria symptoms start suddenly and the symptoms may last for a few days to weeks. Severe attacks of acute porphyria may damage your nervous system and cause muscle weakness that can take a longer time to recover.  On the other hand, cutaneous porphyria symptoms start due to excessive exposure to sunlight. So, if you avoid sunlight, this may heal your skin and prevent further damage.

The Bottom Line

Porphyria is a chronic disease where symptoms will appear and disappear throughout your life. So, try to avoid triggering factors to prevent attacks of symptoms.

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