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What Are Porphyrias? Rare But Serious Blood Disorders Explained
Published: Aug 01, 2024
Porphyrias are a group of rare genetic disorders that affect how your body makes heme, an important component of blood. There are several types of porphyria, each caused by problems with different enzymes in the heme production process.
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
No, porphyrias are rare genetic disorders.
There's no cure, but symptoms can be managed effectively.
Most are inherited, but one type can develop without genetic factors.
Yes, acute attacks can be severe if not treated promptly.
Treatment varies by type but may include medications, avoiding triggers, and lifestyle changes.
Key Takeaways
While rare, porphyrias are serious disorders that require proper diagnosis and management for the best outcomes.
References
- Bissell DM, Anderson KE, Bonkovsky HL. Porphyria. N Engl J Med 2017; 377:862.
- Anderson KE, Bloomer JR, Bonkovsky HL, et al. Ann Intern Med 2005; 142:439.
- Phillips JD, Anderson KE. Chapter 59: The Porphyrias. In: Williams Hematology, 10 ed, 2021.
This article has been reviewed for accuracy by one of the licensed medical doctors working for Doctronic. Always discuss health information with your healthcare provider.
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