Acute intermittent porphyria symptoms during the menstrual cycle

Abstract

Background: Acute intermittent porphyria (AIP), a life-threatening form of the disease, is accompanied by several pain, mental and physical symptoms. Aims: In this study, we evaluated the cyclicity of AIP and premenstrual syndrome (PMS) symptoms in 32 women with DNA-diagnosed AIP during their menstrual cycles, in northern Sweden. Methods: The cyclicity of AIP symptoms and differences in them between the follicular and luteal phases, and the cyclicity of each symptom in each individual woman in different phases of her menstrual cycle were analysed with a prospective daily rating questionnaire. PMS symptoms were also evaluated in the patients on a daily rating scale. Results: Of the 32 women, 30 showed significant cyclicity in at least one AIP or PMS symptom (P < 0.05-0.001). Back pain (10/32) was the most frequent AIP pain symptom and sweet craving (10/15) was the most frequent PMS symptom. Pelvic pain (F = 4.823, P = 0.036), irritability (F = 7.399, P = 0.011), cheerfulness (F = 5.563, P = 0.025), sexual desire (F = 8.298, P = 0.007), friendliness (F = 6.157, P = 0.019), breast tenderness (F = 21.888, P = 0.000) and abdominal swelling (F = 16.982, P = 0.000) showed significant cyclicity. Pelvic pain and abdominal swelling (rs = 0.337, P < 0.001) showed the strongest correlation. The age of women with latent AIP was strongly correlated with abdominal swelling during the luteal phase (rs = 0.493, P < 0.01). Conclusion: Our results suggest that the symptoms of AIP patients change during their menstrual cycles.