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Abstract
Clinical manifestations of acute porphyria (AP) are precipitated by the menstrual cycle in around half of the female patients. Attacks occur after menarche and are most frequent in the mid 20’s. The risk of attacks diminishes after 35-years of age, but the perimenopausal period can provoke attacks. Around 5% of the patients have recurrent attacks, defined as ≥ 3 attacks per year.
The purpose of this study was to explore recurrent attacks triggered by the menstrual cycle or perimenopause among 70 symptomatic female patients. We evaluated retrospectively the preventive use of combined hormonal contraceptives (CHC) and gonadotropin-releasing hormone agonists (GnRHa) among 33 patients. Clinical, biochemical, and genetic data was obtained from the medical reports, registry data and patient interviews during 1996 - 2023.
48 patients (69%) had recurrent attacks precipitated by the menstrual cycle. 15 patients (31%) had genetic counselling, but no preventive treatment. 33 patients (69%), who had 1–20 severe attacks prior to intervention, received medical treatment: 19 patients CHC and 14 patients GnRHa. One patient was excluded since she did not reach amenorrhea during GnRHa treatment.
23 patients responded to medical intervention, 5 partially and 4 patients were non-responders. During GnRHa treatment (3–12months) 9 patients (69%) became asymptomatic. Four patients had 8 attacks, most of which occurred during the first 3 months suggesting longer, 6- 12-month, treatment duration for better clinical response. 11 patients continued with CHC (3–42 months) after GnRHa treatment. 12 patients (63%) became asymptomatic during CHC treatment (2–109 months), and 7 patients had 9 attacks, half of which occurred during the first 3 months.
During the 1st year of intervention, excluding first 3 months in all groups, the proportion of attack free patients was 36% in the control group, 62% in the GnRHa and 74% in the CHC group. Follow-up of five years demonstrated a decrease in attack rate in all groups.
Based on these results, hormonal intervention should be considered among female patients with recurring attacks (≥ 2 attacks/6 months) precipitated by the menstrual cycle.
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