How May Porphyria Affect My Lifespan?

If you’ve been diagnosed with porphyria — one of a group of disorders characterized by very high levels of porphyrins in the blood and tissues — you may be wondering how the disease affects your lifespan.

Several factors affect a person’s lifespan, including genetics, the environment, and one’s medical history.

What causes porphyria?

Porphyria can be caused by mutations in genes involved in the process of making heme. The body uses heme to make hemoglobin, a protein that transports oxygen in red blood cells. Heme also plays an important role in the electron transport chain in mitochondria, which produce energy for cells. A problem in any of the proteins involved in making heme means that porphyrins build up, causing the symptoms of porphyria. Among the several types of porphyria, the symptoms for each individual can range from mild to severe.

What other conditions are patients at risk for?

Patients with porphyria generally have a normal life expectancy. However, those with acute hepatic porphyria are at increased risk of developing high blood pressure, chronic kidney disease, and hepatocellular carcinoma (liver cancer), which may reduce their lifespan.

Patients with acute porphyria are prone to acute disease attacks, during which they experience more severe symptoms including intense pain, hallucinations or confusion, and nausea or constipation. If left untreated, acute porphyria attacks can be life-threatening.

How can I get help?

Finding out you have a disease that potentially affects your lifespan can be frightening and overwhelming. Getting the help and support you need is important but it can be difficult to know when to speak to family or friends about your diagnosis. Your doctor can direct you to a counselor.

Many patients can also benefit from joining a support group, either locally or nationally, where they can meet other patients who understand what they’re going through.

How do I plan for the future?

If you have a type of porphyria that affects your lifespan (or if you have developed complications related to porphyria, such as chronic kidney disease), you will want to plan for the future.

Last updated: July 21, 2020