What Are Porphyrias? Rare But Serious Blood Disorders Explained

What Causes Porphyria?

Porphyrias are caused by genetic mutations that affect enzymes involved in making heme. Heme is a crucial part of hemoglobin, which carries oxygen in your blood. When one of these enzymes doesn't work properly, it leads to a buildup of chemicals called porphyrins in your body. This buildup can cause various symptoms depending on which enzyme is affected.

What Are the Main Types of Porphyria?

There are two main categories of porphyria: acute and cutaneous. Acute porphyrias primarily affect the nervous system and can cause severe abdominal pain, vomiting, and even paralysis. Cutaneous porphyrias mainly affect the skin, causing extreme sensitivity to sunlight. The most common types are acute intermittent porphyria, porphyria cutanea tarda, and erythropoietic protoporphyria.

How Is Porphyria Diagnosed?

Diagnosing porphyria can be challenging because symptoms often mimic other conditions. Doctors typically use urine, blood, and stool tests to measure levels of porphyrins and other related chemicals. Genetic testing may also be done to confirm the specific type of porphyria. Early diagnosis is crucial for proper management and prevention of complications.

Frequently Asked Questions

Key Takeaways

While rare, porphyrias are serious disorders that require proper diagnosis and management for the best outcomes.

Related Articles

• Could Your Mysterious Symptoms Be a Sign of Acute Porphyria?
• Demystifying Porphyria Testing: What You Need to Know
• Treating Porphyria: From Acute Attacks to Long-Term Management
• Unmasking Porphyria Triggers: What Can Set Off an Attack?

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