Hereditary angioedema in women: Hormonal and reproductive influences on disease activity.

Background

Hereditary angioedema (HAE) is a rare, potentially life-threatening disorder characterized by recurrent edema of the extremities, abdomen, face, larynx, trunk, and genital region. It follows an autosomal dominant inheritance pattern and affects both sexes equally; however, attacks may occur more frequently and with greater severity in women due to hormonal factors. Aims: The aim of this study was to evaluate the impact of hormonal changes on HAE attacks in women and to determine how different reproductive stages and hormonal exposures affect attack frequency and course.

Methods

In this retrospective descriptive cohort study, 36 postpubertal women with HAE were evaluated to assess the effects of reproductive factors, including menstruation, oral contraceptive use, pregnancy, delivery, lactation, and menopause, on attack frequency and disease activity.

Results

Thirty patients had type I and six had type II HAE. The mean age at diagnosis was 23.5 years, with a mean diagnostic delay of 12.6 years. Menstruation triggered attacks in 52.8% of the patients. Among 26 patients with 94 pregnancies, 21.2% ended in spontaneous abortion, and 73.1% had at least one child diagnosed with HAE. During pregnancy, attack frequency increased in 30.6%, decreased in 27.7%, and was unchanged in 41.7%. Attacks occurred within 48 hours postpartum in six deliveries, and three patients reported increased attacks during lactation. After menopause, attacks increased in 25%, decreased in 33.3%, and were unchanged in 41.7%.

Conclusion

Hormonal and reproductive life stages influence disease activity in women with HAE, although the direction and magnitude of these effects vary among individuals. The marked delay in diagnosis observed in this cohort suggests that many women experience pregnancies without disease-specific management. Earlier recognition of HAE and individualized treatment approaches may improve care during hormonally dynamic periods.