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215-218C C, Mol

Front Microbiol 12:630695

Porphyria is not typically part of a differential diagnosis, and for patients presenting to emergency departments with pain or acute attacks, the priority is placed on stabilizing the patient rather than identifying the underlying cause.[97,98] Laboratory screening tests used to confirm a diagnosis may also be unreliable.[99] Complicating matters, concentrations of urinary PBG and ALA are often normal between acute attacks, and the turnaround time for results is 12 weeks, since testing is only performed at large reference centers .[100] Because the disease can mimic other conditions and symptoms are variable, misdiagnosis is also common.[98] One study found diagnosis of porphyria was delayed by a mean of 15 years from onset of symptoms,[101] yet timely diagnosis is essential since untreated attacks can progress and lead to permanent neurological damage or life-threatening complications.[97] Undiagnosed patients may also inadvertently continue to take drugs that exacerbate symptoms or trigger acute attacks.[98] Treatment and management of symptoms also pose significant challenges to patients and the medical community

Antioxidants (Basel) (2022) 11(1):150