AS1-CAN-00169, February 2026
Derry Wilcox
Treasurer, Canadian Association for Porphyria
This complex rare disease highlights why patient advocacy is critical to accessing better treatments and increasing clinical understanding overall.
Acute Hepatic Porphyrias (AHP) is a group of genetic disorders that presents differently in every patient. AHP is a misunderstood, misdiagnosed condition. Patients may experience sudden attacks including severe symptoms like confusion, insomnia, abdominal pain, extreme fatigue and tachycardia making it difficult to complete even the simplest of daily tasks. With a mean diagnosis delay of up to 15 years, awareness is critical to ensuring patients understand their treatment options, which can help alleviate symptoms.
Acute Hepatic Porphyrias disorders are a direct result of the body’s inability to properly produce heme, a molecule integral to iron production, which carries oxygen, produces energy and detoxifies chemicals. It may be just a tiny piece of our body’s puzzle, but when heme production is defective, the result is a rare genetic disorder (like AHP) that appears when toxic substances – porphyrins – accumulate, damaging our nervous system.
Understanding is Critical for Prevention
It is unclear how rare AHP is. While current estimates range from 1 in 500 to 1 in 50,000, AHP is often genetic and can remain dormant leading to low diagnosis rates. AHP is characterized by sudden ‘attacks’ which vary in severity but typically appear as extreme abdominal pain, brain fog, and tachycardia. For those experiencing these symptoms, it’s important to discuss porphyria with a physician as the condition can often go misdiagnosed. Sometimes as quickly as they come, attacks disappear, making formal diagnosis challenging. For Derry Wilcox, Treasurer for the Canadian Association for Porphyria, while attacks caused an inability to complete even the basic functions of day-to-day life, it was the chronic symptoms that made life especially difficult: “Between attacks, I often experience chronic pain, nausea and fatigue. It is a constant daily struggle to just make it through.”
Like any rare disease, AHP suffers from a lack of awareness. Attacks can be sporadic but, in a particularly vicious cycle, are also necessary to the diagnostic process. During an AHP attack, heme precursor levels are highest, meaning that diagnostic tests can only be completed reliably while someone is experiencing an attack. Once it subsides, levels go back to normal. While this urgency is necessary for proper diagnosis, clinical disease understanding is low, amounting to further diagnostic challenges: “One limitation is the lack of familiarity with ordering and administering medications which can cause delays in treatment,” explains Derry.
A Brighter Future for AHP Treatment
Typically, treatment for AHP attacks is IV therapy, which replenishes heme while suppressing the overproduction of toxic substances. It’s given reactively and requires patients to present at hospital during an attack. While offering patients relief from their symptoms, IV therapy doesn’t treat the underlying cause. However, newer once-monthly therapies now exist that may prevent recurrent attacks, which could reduce hospitalizations and the need for IVs. New therapies are effective, but patients must still meet specific criteria to access, including documented evidence of attacks at a hospital level. Unfortunately, attacks cause such extreme pain that many patients either can’t get to the hospital or choose to weather the worst at home.
While hope is on the horizon and new treatments like gene therapy continue to be explored, regulatory challenges make the availability of these treatments difficult. In Canada, these processes are known to be long and even once approved, expensive.
As with many rare conditions, patient advocacy continues to be important not only by increasing awareness for AHP, but by putting increased pressure on reimbursement bodies to make these essential treatments available to patients who desperately need them.
To learn more about AHP, symptoms, and treatment options available, visit www.porphyriacanada.ca.
