Obstetric and Gynecological Outcomes in Patients with STAT3-deficient Hyper IgE Syndrome [13Q]

    loading  Checking for direct PDF access through Ovid

Abstract

INTRODUCTION:

Autosomal dominant Hyper IgE syndrome (AD-HIES) is a primary immunodeficiency due to STAT3 mutations, resulting in eczema, recurrent skin and pulmonary infections, and mucocutaneous candidiasis. Little is known of gynecologic-obstetric complications but with improved therapies, women are living longer making reproductive health more pertinent.

METHODS:

We prospectively interviewed and retrospectively reviewed medical records of adult women with AD-HIES evaluated at NIH between 2000-2017.

RESULTS:

Of 60 patients aged 19-66 years (mean 35), 45 women were interviewed, and chart reviews were performed on 15, of whom eight were deceased. 21/60 (35%) reported having regular cervical cytology testing with seven (33%) having abnormal squamous cells of unknown significance (ASCUS). Five women reported vulvar cysts/abscesses requiring drainage. Nine women had IUDs placed, in some to suppress menses-associated vulvar eczema/abscess flares; no infectious complications were reported. Over 30% of women chose not to conceive given underlying disease. Of 16 women with pregnancies, 15 women had 26 live births, 6/16 (38%) had miscarriages, and 3/16 (19%) experienced recurrent pregnancy loss. . Three women whose pulmonary symptoms worsened during pregnancy were diagnosed with progression of parenchymal lung disease post-partum. One woman experienced worsening of skin manifestations. Other reported postpartum complications included one incisional infection (after Caesarean) and one hemorrhage leading to hysterectomy.

CONCLUSION:

As women with AD-HIES are living longer, they elect to have children or prevent pregnancy; knowledge of their reproductive choices and complications can improve their care. While these women may choose to attempt pregnancy, the risk of recurrent pregnancy loss and worsening disease warrants discussion.

Related Topics

    loading  Loading Related Articles