Hereditary Angioedema Attack in Utero and Treatment of the Mother and Fetus

Abstract

Hereditary angioedema (HAE), an inherited deficiency of functional C1 esterase inhibitor (C1-INH), is characterized by unpredictable recurrent episodes of painful and often disabling swelling in subcutaneous and/or submucosal tissues. We report the case of a 23-year-old woman with type I HAE who had abdominal, facial, and peripheral attacks throughout her first pregnancy. A facial HAE attack occurred at week 38 of her pregnancy, and symptoms improved after self-administration of 50 U/kg of recombinant human C1-INH (total dose, 3500 U), but soon after she had an unusual abdominal sensation. Ultrasonography detected fetal lower lip swelling (w3 times the normal size) and limb swelling. Physical examination of the mother found cervical dilatation, indicating the final stages of labor. Two hours after treatment of her HAE attack, she spontaneously delivered a healthy male infant. Photographs taken within 2 minutes of delivery revealed resolution of the infant's facial edema, and the limb edema was resolved within 30 minutes. By 10 minutes postdelivery, the mother's facial attack had almost completely resolved. Ten months after birth, genetic analysis confirmed that the infant had type I HAE. This is the first documented case of an HAE attack in utero. Treatment of the mother with recombinant human C1-INH was effective for the maternal and fetal attacks, with resolution within approximately 2 to 2.5 hours for both patients.

Inborn Errors of Immunity With Fetal or Perinatal Clinical Manifestations

“…The immune-related manifestations of Complement deficiencies, either bacterial infections or rheumatic diseases, usually have childhood onset (Figure 1). We were able to identify only one case of HAE with an intrauterine attack (90). A 23-yearold pregnant woman in the 38th week of gestational age and with a previous HAE diagnosis presented with a HAE episode and referred an unusual abdominal sensation; fetal ultrasonography was performed at that moment and detected fetal lower lip swelling (3 times the normal size) and limb swelling.…”

Hereditary C1-inhibitor deficiency angioedema (C1-INH-HAE) in children – practical considerations

“…The first swelling attacks may appear at any age, but they usually occur in childhood or adolescence, with the first HAE attack occurring before the age of 5 and 15 years in approximately 40% and 75% of patients, respectively. In rare cases, however, swelling may appear earlier, already in the perinatal or even prenatal period (14,15) . Importantly, the earlier the symptom onset, the more severe the later course of the disease (1) .…”

A Comprehensive Management Approach in Pediatric and Adolescent Patients With Hereditary Angioedema

“…4,8 While on rare occasions attacks may occur in the first year of life, there has been a single documented case of an HAE attack occurring in utero in a mother who had a facial attack while in active labor. 9,10 The mean age of the first HAE episode is 10 years, and approximately 40% of patients experience their first episode by age 5 years. 3,4,8 The onset of clinical symptoms at an early age is associated with a more severe disease course, including more HAE episodes per year and more hospitalizations for HAE-associated symptoms.…”

“… 4 , 8 While on rare occasions attacks may occur in the first year of life, there has been a single documented case of an HAE attack occurring in utero in a mother who had a facial attack while in active labor. 9 , 10 The mean age of the first HAE episode is 10 years, and approximately 40% of patients experience their first episode by age 5 years. 3 , 4 , 8 …”