Anorectal malformations (VACTERL)

(55–90% patients)

Major anomalies (62.2%)

• Congenital absence, atresia and stenosis of the rectum with or without fistula
• Congenital absence, atresia and stenosis of anus with or without fistula, including congenital fistula of the rectum and anus, congenital rectovaginal fistula and congenital urethro-rectal fistula. Genito-urinary anomalies can occur in 25% of VACTERL patients and may be less obvious
• Ectopic anus

Minor anomalies (3%)

• Persistent cloaca
• Cloacal exstrophy

Why might these patients present to the GP in adulthood?

These patients represent a complex patient group with ongoing physical and psychological challenges in adulthood. For this group, the onset of adulthood means work, relationships and fertility will be faced for the first time and may mean previously unidentified medical problems are discovered or the known medical issues pose additional difficulties. For the patient and the GP, ongoing medical issues due to anorectal malformation (ARM) are complicated by the lack of experience managing this patient group in adult services. (154) Some may remain under the care of paediatric surgeons, but others are solely managed in general practice, though other specialities involved include urology and general surgery. There is also a lack of a multidisciplinary team approach in the adult setting, unlike management of patients with ARMs in the paediatric setting. Lack of awareness of ARM in adult providers means some patients are reluctant to seek medical support due to perceived lack of knowledge about their conditions. (154)

1. Faecal incontinence. Prevalence ranges from 16.7% to 76.7% Research into this patient group in adulthood shows that many with ARMs would like improved treatment and function, but had not received maximal optimal treatment, and had been told colostomy was the only treatment, despite other options available, and many have given up seeking treatment due to this. (155)
2. Chronic constipation. Prevalence ranges from 22.6% to 86.7%.
3. Urinary incontinence. Prevalence ranges from 1.7% to 30.5%. (156)
4. Sexual function. Genital anomalies may make sexual activity difficult and new anomalies may be discovered. Incontinence due to ARMs may cause issues during intercourse. There may also be a psychological impact of ARMs, with the anomalies causing a loss of self-esteem and self-confidence about sexual relationships. (157) For women, this can cause pain during intercourse, difficulties achieving penetration and incontinence of faeces during intercourse. For men, there can be erectile dysfunction (5.6–11.6%) and ejaculatory dysfunction (15.6–41.2%). (156)
5. Fertility issues. Patients may present to GPs after difficulties conceiving a child. In men this can result from the ARM or from the surgery to correct the ARM. (158) In case reports of pregnancies in women with ARMs, 3/18 needed assisted conception. (159)
6. Women with ARMs are high-risk pregnancies. A systematic review of obstetric outcomes in this patient group found the majority had Caesarean deliveries, although two had vaginal deliveries This is a result of desire to preserve the repaired anatomy during delivery, and anatomical anomalies that prevent vaginal delivery. (151,159,160) During pregnancy, frequency of UTIs (urinary tract infections) increased and, in some, kidney function was affected. Rarely, the disease is associated with Mayer-Rokitansky-Küster-Hauser syndrome, where there is aplasia of the uterus and part of the vagina, and may present to the GP with amenorrhoea (not starting periods) or failure to conceive. (161)
7. Mental health. In one study, 58% of adults with ARMs had mental health diagnoses, mainly depression and anxiety. This reflects the high impact of these anomalies on patients’ quality of life and self-image. (162)