What Is Porphyria?

A porphyria is a group of inherited disorders. People having this disorder are unable to produce heme properly, which is an essential constituent of hemoglobin. Heme is composed of porphyria, which occurs naturally in the body and bounds to iron. Heme is responsible for the red color of the blood and also helps in the transport of oxygen through the body. It is also found in myoglobin, which is a protein in your skeletal muscles and heart. 

The process of producing heme involves several steps. The bodies of people with porphyria lack certain enzymes to conclude the process, which causes porphyrin to stockpile in the blood and tissues. The porphyria symptoms may range from mild to severe. Some of the most common symptoms include increased sensitivity to light, abdominal pain, and issues with the nervous system and muscles. Different people may experience various symptoms depending upon the enzyme, which got affected. 

What Causes Porphyria?

All types of porphyria are linked to an issue in the production of heme. As we have already discussed, heme is a protein found in the hemoglobin of your blood. Heme is generally produced in the bone marrow or liver and involves eight different enzymes. The deficiency of a particular enzyme determines the type of porphyria. 

 Genetic Forms

Many forms of porphyria are inherited. Porphyria happens when you inherit the following:

A defective gene from either of your parents (called an autosomal dominant pattern)

Defective genes from both of your parents (called an autosomal recessive pattern)

In some cases, a child may inherit the genes from his parent but will never experience any of the porphyria symptoms. In such a case, the person can still be the carrier and pass on the disease to others. 

Acquired Forms

Porphyria Cutanea Tarda (PCT) is one form of the disease that is acquired rather than inherited. Some factors that influence the enzyme production are – too much iron in the body, estrogen medication, liver disorder, smoking, and excessive alcohol intake. 

What Are The Risk Factors For Porphyria?

Following factors may be responsible for causing porphyria:

  • Smoking
  • Alcohol use
  • Emotional stress
  • Dieting or fasting
  • Certain medications include hormonal drugs
  • Physical stress such as infections and various other illnesses 
  • Exposure to sunlight
  • Recreational drugs
  • Menstrual hormones – It is rare that a woman gets acute porphyria before puberty and after menopause

What Are The Symptoms Of Porphyria?

The symptoms depend upon the type of porphyria you have:

Acute Porphyrias

It includes the types of disease that generally causes nervous system symptoms, which show up quickly and may become severe. The symptoms may persist for a couple of days or months and disappear after an attack. One common form of acute porphyrias is acute intermittent porphyria. 

Some of the common symptoms of acute porphyrias are:

  • Pain in your chest, legs, and back
  • Severe abdominal pain
  • Nausea or vomiting
  • Diarrhea or constipation
  • Red or brown coloration of urine
  • Urination problems
  • Rapid or irregular heartbeats
  • Breathing problems
  • Seizures
  • High blood pressure
  • Muscle pain, tingling, numbness, weakness, or paralysis
  • Mental changes such as confusion, anxiety, hallucinations, disorientation or paranoia

Cutaneous Porphyrias

It involves many of the skin-related symptoms, but don’t usually affect the nervous system. The increased sensitivity is the prime reason for cutaneous porphyrias. One of the most common types of cutaneous porphyria is Porphyria Cutanea Tarda (PCT). 

With exposure to harmful ultraviolet rays of the sun, you can have the following symptoms:

  • Sensitivity to the sun or artificial light, leading to burning pain
  • Blisters on exposed skin, usually the face, arms, and hands
  • Fragile, thin skin with transformations in skin color
  • Sudden swelling, pain, and redness 
  • Itching
  • Red or brown coloration of urine
  • Itching
  • Excessive hair growth in certain areas

When To Consult A Doctor?

Many of the symptoms of porphyria resemble other medical conditions, and so it is difficult to tell whether you have a porphyria attack. Seek medical assistance in case of experiencing some of the above-listed symptoms. 

How Is Porphyria Diagnosed?

Several tests can help diagnose the condition. 

To detect physical issues:

  • Chest X-ray
  • Electrocardiogram (EKG)
  • Computed Tomography (CT) scans

To detect blood-related issues:

No cure has yet been discovered for porphyria. The main objective of treatment is to help manage the symptoms. Most cases of porphyria are treatable with medications. 

How Is Porphyria Treated?

Following are the treatment alternatives available for hepatic disease:

  • Opioids for pain management
  • Carbohydrate-rich diet to speed up recovery
  • Beta-blockers to regulate blood pressure
  • Hematin to curtail the duration of attacks

Following are the treatment alternatives available for erythropoietic disease: 

  • Blood transfusions
  • Bone marrow transplant
  • Iron supplements for anemia

How To Prevent Porphyria?

It is not possible to prevent porphyria as most forms of the disease happen due to some gene mutations. You need to stay away from the triggers (such as smoking, alcohol consumption, and sunlight exposure) that can lead to the symptoms. Certain drugs that you should not take include birth control pills, tranquilizers, barbiturates, and sedatives. 

Be Prepared For The Appointment

If you suspect that you may have porphyria, then you can consult your general practitioner to confirm the diagnosis. Diagnosis of the condition is not at all simple, and so your doctor may refer you to the one who specializes in blood disorders (called a hematologist).

For your ease, I’ve decided to put forward the necessary tips to go prepared to the hematologist. You need to make a list of:

  • Questions to ask from the doctor
  • All the symptoms you’re experiencing, even if some of them are not related to the purpose of your appointment. 
  • Your personal information, including any recent life changes, and significant stresses
  • All vitamins, herbs, medications, or supplements that you’re currently taking or have taken any time in your lifetime, along with the dosages

Following questions are essential to be asked from your doctor:

  1. What can be the most expected cause of your symptoms?
  2. What can be the other causes?
  3. What tests do I require?
  4. What’s the best course of action?
  5. I have another health condition. How can I best manage these together?
  6. Are there any precautions or restrictions I should follow?
  7. What are the alternatives to the primary approach that you’re suggesting?
  8. Do I need genetic testing? If so, should my family members be screened?
  9. Are there any brochures or other printed material that I can have? What websites do you recommend?

If you have some other queries in your mind, you can include them also in your list of questions. 

What To Expect From The Doctor’s Visit?

Your doctor may also ask you several questions. Answer them correctly and try to spend more time in the areas you need to emphasize. Some of the questions your doctor can ask are listed below:

  1. Are your symptoms continuous or occasional?
  2. When have you started experiencing the symptoms?
  3. What, according to you, improves your symptoms?
  4. What worsens your symptoms?
  5. Do any other family members experience similar symptoms as you?

Long-term Outlook Of Porphyria

The long-term outlook of the disorder varies extensively. Some patients may not recognize they have developed porphyria until the damage has been caused. Permanent damage may include the following:

  • Anxiety attacks
  • Breathing issues, requiring constant oxygen supply
  • Walking trouble
  • Scarring

Sources:

https://www.mayoclinic.org/

https://www.webmd.com/

https://www.healthline.com/

https://medlineplus.gov/

Leave a Reply

Your email address will not be published. Required fields are marked *