Acute hepatic porphyria in Denmark; a retrospective study

Area of Science:

• Biochemistry
• Genetics
• Internal Medicine

Background:

• Acute hepatic porphyria (AHP) comprises rare genetic disorders affecting the heme-biosynthetic pathway.
• Key subtypes include acute intermittent porphyria (AIP), hereditary coproporphyria (HCP), and variegate porphyria (VP).
• This study details the characteristics of AHP patients in Denmark.

Purpose of the Study:

• To describe the clinical characteristics of the Danish AHP patient cohort.
• To analyze symptoms, acute attacks, hospitalizations, and long-term sequelae.
• To correlate urinary porphobilinogen (PBG) excretion levels with symptom presentation.

Main Methods:

• Retrospective analysis of electronic patient journals over 5 years.
• Inclusion of 129 AHP patients (100 AIP, 12 HCP, 17 VP).
• Classification based on creatinine-adjusted urinary baseline PBG excretion: normal, moderate, high, and unknown.

Main Results:

• The cohort comprised 129 patients, predominantly female (65.9%) with a median age of 46.3 years.
• 38 patients (29.5%) experienced symptoms, with abdominal pain and neurological disturbances being most frequent.
• Higher PBG baseline excretion correlated significantly with increased symptom reporting (p=0.002).

Conclusions:

• AHP is more frequently diagnosed and symptomatic in women, consistent with international findings.
• Acute intermittent porphyria (AIP) is the most common subtype in this cohort.
• Elevated urinary PBG levels are associated with a higher likelihood of AHP-related symptoms.