Porphyria – Symptoms and Causes
Overview
Porphyria includes a group of rare disorders caused by the buildup of natural chemicals called porphyrins in the body. These chemicals are necessary for creating heme, a component of hemoglobin that helps red blood cells transport oxygen throughout the body.
The body needs eight different enzymes to convert porphyrins into heme. When any of these enzymes are deficient, porphyrins accumulate to harmful levels. This accumulation can lead to significant health problems.
Porphyrias fall into two main categories:
- Acute porphyrias come on quickly and primarily affect the nervous system.
- Cutaneous porphyrias mainly impact the skin.
Some types of porphyria affect both systems. Symptoms vary widely depending on the specific type and severity of the condition.
Most cases of porphyria are inherited through genetic transmission from one or both parents. While there is no cure for porphyria, it can be managed through:
- Medication
- Lifestyle adjustments
- Targeted symptom treatment
The approach to treatment depends on the specific type of porphyria a person has. With proper management, many people with porphyria can maintain a good quality of life despite this chronic condition.
Signs and Symptoms
Severe Porphyrias
Severe porphyrias affect the nervous system with symptoms that appear quickly. These symptoms may continue for hours, days, or weeks. Acute intermittent porphyria (AIP) is the most common type, with symptoms that come and go in attacks.
People with severe porphyrias may experience:
- Intense pain in the stomach, chest, legs, or back
- Digestive issues including constipation, nausea, and vomiting
- Nerve problems like tingling, numbness, weakness, or paralysis
- Dark urine that appears red or brown
- Mental changes such as anxiety, confusion, or hallucinations
- Heart problems like rapid or irregular heartbeats
- Breathing difficulties
- High blood pressure
- Seizures
Skin-Related Porphyrias
Skin-related porphyrias cause symptoms when the skin is exposed to sunlight. These types usually don’t affect the nervous system. Porphyria cutanea tarda (PCT) is the most common form of all porphyrias.
Exposure to the sun may lead to:
- Light sensitivity causing burning pain in the skin
- Sudden skin redness and painful swelling
- Blisters on exposed areas like hands, arms, and face
- Thin, fragile skin with color changes
- Itching
- Excessive hair growth in affected areas
- Discolored urine that appears red or brown
Erythropoietic protoporphyria (EPP) is a rare skin-related porphyria that most often affects children. Sun exposure quickly causes painful burning, irritation, and swelling. Small bumps and blisters form. Over time, repeated exposure can result in thick skin and scarring.
When Medical Care is Needed
See a doctor if you have symptoms that might be porphyria. Many symptoms look like other common conditions, making it hard to know if you’re having a porphyria attack. Getting medical help quickly is important for proper treatment.
If you notice dark urine along with stomach pain, skin blisters after sun exposure, or nervous system symptoms, don’t wait to seek medical attention.
What Causes This Condition
Genetic Types
Most types of this condition come from changes in genes passed down through families. Your body needs eight different enzymes to make heme, an important part of hemoglobin that carries oxygen in your blood.
When one of these enzymes doesn’t work right, substances called porphyrins build up in your body.
You can inherit these gene changes in two ways:
- From One Parent (dominant pattern): Only one changed gene is needed to cause the condition.
- From Both Parents (recessive pattern): You need two copies of the changed gene.
Having these gene changes doesn’t always mean you’ll get sick. Many people with these genes never develop any symptoms at all.
Non-Genetic Types
Some forms, especially porphyria cutanea tarda (PCT), aren’t usually inherited. Instead, certain triggers cause porphyrins to build up and create symptoms.
Common triggers include:
| Trigger | How It Affects the Body |
|---|---|
| Excess iron | Often from hemochromatosis, another genetic condition |
| Viral infections | Particularly HIV and hepatitis C |
| Alcohol use | Heavy drinking can trigger symptoms |
| Tobacco | Smoking may activate the condition |
| Hormonal changes | Monthly cycles can trigger episodes |
In cutaneous types, these porphyrins collect in the skin and cause problems when exposed to sunlight. In acute types, the buildup affects your nervous system and causes different symptoms.
Risk Factors
Besides genetic factors, certain triggers can spark porphyria symptoms. These triggers increase the body’s need for heme production, overwhelming the reduced enzyme levels and causing porphyrins to build up.
Common triggers include:
- Sunlight Exposure
- Medications (birth control pills, sedatives, barbiturates)
- Recreational Drugs
- Dieting or Fasting
- Tobacco Use
Physical stressors like infections, illnesses, or surgery can also trigger symptoms. Other factors include:
- Emotional stress
- Alcohol consumption
- Hormonal changes during menstruation
Complications
Porphyria complications vary based on the specific type:
Acute porphyrias can become dangerous without quick treatment. During attacks, patients may face:
- Severe dehydration
- Breathing difficulties
- Seizures
- High blood pressure
Hospital stays are often necessary for proper care. With repeated attacks over time, patients might develop:
- Chronic pain issues
- Kidney failure
- Liver damage
- Increased liver cancer risk
Skin-related porphyrias can cause lasting skin damage. Blisters may become infected and lead to:
- Altered skin appearance and color
- Fragile skin that heals slowly
- Scarring
- Higher risk of liver problems, including cancer
In some unusual cases, patients might need transplants. Doctors may recommend bone marrow or liver transplants when other treatments don’t work.
Prevention
There’s no way to prevent porphyria. But if you have this condition, avoiding triggers can help prevent symptoms.
Porphyria is typically inherited. So, family members should consider genetic testing to determine if they have the condition. Genetic counseling provides valuable guidance for understanding test results and associated risks.
