What Is Known/What Is New
What Is Known
- Patients born with Hirschsprung disease now survive well into adulthood.
- Historically, there have been 3 primary operations, with similar long-term outcomes.
- Structured care transition and long-term follow-up is lacking.
What Is New
- The view that patients with Hirschsprung disease did well after pull-through in infancy or childhood and did not require long-term follow-up is now under scrutiny.
- Studies now suggest functional outcome and quality of life may be interrelated and deteriorate with age.
- Formalized transition of care is needed to provide better long-term care for these patients.
Many patients with surgically correctable congenital anomalies are now surviving well into adulthood. Long-term outcome studies in patients with Hirschsprung disease (HD) suggest that follow-up lapses are common and can have detrimental effects on health outcomes (1). Emerging literature suggests that structured transition for medically and surgically complex pediatric patients to medical systems and providers for adult patients would offer improved long-term outcomes and quality of life (2). Improving care transition for pediatric surgical patients has become a nationwide agenda. Each patient population requires their own focus and successful transition is a multidisciplinary process. In this article we review the pathophysiology of HD and surgical repair options as background for colorectal surgeons and gastroenterologists, discuss complications and long-term outcomes, and offer suggestions to improve and guide structured care transition.
HD is a congenital anomaly due to a disruption in the development of ganglion cells, affecting approximately 1:5000 live born infants. Most often the disease involves the rectum or rectosigmoid colon only. In up to 5% to 10% of cases, however, the entire colon may be involved. This is termed total colonic aganglionosis (TCA) and is more likely associated with a genetic predisposition (3). The majority of patients present during the neonatal period with delayed passage of meconium, abdominal distention, bilious vomiting, and feeding intolerance. A water-soluble contrast enema is used as a screening study to rule out other causes of distal bowel obstruction, but the definitive diagnosis is made with a rectal biopsy. In more resource-limited settings, delayed diagnosis is the norm. HD is also associated with other congenital and chromosomal anomalies; patients with Down syndrome have a 100-fold higher risk of developing HD than the average population (4).
SURGICAL REPAIR OPTIONS
HD requires surgical treatment. The goal is to remove the distal aganglionic bowel segment and restore intestinal continuity, while preserving the function of the anal sphincter. There are 3 primary operations: the Swenson, the Soave, and the Duhamel. No single operation has proven superior. The Swenson operation involves a full-thickness dissection of the affected rectum beginning above the dentate line and an end-to-end anastomosis with the normal bowel; it results in the least amount of residual aganglionic bowel. The Soave procedure involves a submucosal endorectal dissection, resulting in a cuff of aganglionic colon. The dissection plane avoids risk of injury to deep pelvic structures; however, the aganglionic cuff can be associated with mechanical obstruction. The Duhamel operation brings normally ganglionated colon down through the retrorectal space with limited risk of injury to any major anatomic structures. An end-to-side anastomosis to the native rectum is performed. The anterior half of the reservoir created, however, consists of residual aganglionic bowel, which may not empty properly resulting in severe constipation. Figure 1 illustrates these 3 operations. Performing any of these procedures in a single stage with laparoscopic assistance is now common (5).
Long-segment disease may require a different surgical approach. A 2-stage procedure may be needed if a significant portion of distal colon or the entire colon is affected. Beyond the 3 standard operations, other procedures include a long side-to-side anastomosis of ganglionic ileum with distal aganglionic colon, onlay right colonic patch with ileal endorectal pull-through, or J-shaped ileoanal pouch anastomosis. No technique has proven superior with respect to postoperative morbidity or mortality, functional outcomes, or occurrence of enterocolitis (3).
The majority of these patients suffer from some degree of lifelong constipation (up to 76%) or fecal incontinence (up to 44%) (6). This is due to inadequate remaining bowel length, dysfunctional remaining bowel, or complications from surgery (ie, damage to sphincters during dissection). Work-up to rule out anatomical and mechanical etiologies includes a water-soluble contrast enema and an exam under anesthesia to evaluate the integrity of the anal canal. Patients tend to suffer either from fecal incontinence or from symptoms of obstruction. In patients with fecal incontinence, more than half had a damaged anal canal (7). Obstructive symptoms may be due to a mechanical obstruction (ie, a twisted pull-through segment or an obstructing Soave cuff), a transition zone pull-through (ie, retained aganglionic segment), internal sphincter achalasia, a motility disorder, or functional megacolon as a result of stool-holding behavior (8). Further work-up to distinguish between these etiologies includes biopsies, manometry, or magnetic resonance defecography. Up to 8% of patients have complications which require surgical revision (6). Revisional surgeries include re-do pull-through, spur resection, or cecostomy to allow access for antegrade enemas to manage chronic constipation. Adhesive bowel obstruction may occur at any time, with variable acuity (5).
The most significant complication is Hirschsprung-associated enterocolitis (HAEC), reported to occur in up to 60% of patients (1,9). Those with TCA are particularly susceptible to enterocolitis. The etiology of HAEC is unknown. Theories include partial obstruction leading to colitis or an intrinsic dysfunction in the intestinal homeostasis (1). HAEC typically occurs before age 5, but can occur at any point in life. A review of patients who underwent pull-through between 1969 and 1989 cited HAEC occurring in 5% of adult patients (10). In the pediatric population, the mortality is as high as 10%; the mortality in adult patients is unknown (11). Although HAEC is rare in the adult population, it may be life-threatening, particularly if diagnosis is missed or delayed. Providers must be familiar with the warning symptoms, including lack of stool or diarrhea, vomiting, abdominal distention, and fever. Patients must be evaluated if these symptoms are present. Treatment consists of rectal irrigations, fluid resuscitation, and systemic antibiotics.
LONG-TERM OUTCOMES AND QUALITY OF LIFE
Surveys of patients with HD have demonstrated a perceived good quality of life despite chronic gastrointestinal issues (12,13). The vast majority consistently report chronic gastrointestinal issues, including constipation, needing to strain to have a bowel movement, requiring several attempts for complete emptying, or conversely struggling with incontinence or flatulence. Despite these chronic issues, few are followed long-term. In a retrospective review of 120 adults evaluated at a colorectal and urogenital clinic, only 3.4% were patients with HD (14). One study found that more than 30% of patients are no longer followed after the age of 10 (15). Rintala and Pakarinen have recently brought into question the widely held view that long-term outcomes for patients with HD are favorable. A survey of all patients who underwent operation for HD between 1950 and 1986 suggested that bowel function may deteriorate with age. Only increased age was found to be an independent predictor of poor functional outcome and was associated with poor bowel function score (1).
Patients with TCA comprise nearly their own patient population. They have higher incidences of constipation, incontinence, and enterocolitis. They may require long-term stomas and may require long-term TPN, which bears its own set of complications (3).
Psychosexual outcomes have not been well studied. Data suggest a higher than average rate of erectile dysfunction among men with HD (11% as compared to 5% in the general population) and some degree of sexual dysfunction among women. Few studies have addressed the long-term mental health outcomes of HD or the psychosocial implications of HD (16).
PROPOSED TIMELINE FOR TRANSITION OF CARE
No study has demonstrated an optimal time for transition. Surveys suggest that the majority of patients complete transition between 16 and 21 years old, and are then followed by either a medical provider or a surgeon. In a recent survey of adults followed in a colorectal clinic, 33% were still followed by a pediatric surgeon and only 13% had transferred care to a colorectal surgeon (17). More than 70% of these patients reported no discussion before transition. It is important that the pediatric surgeon set expectations early on that children with HD often continue to have some element of ongoing bowel dysfunction and should be followed lifelong (17). We propose beginning the transition at or before age 12, under the direction of the pediatric surgeon, and completing transition at 18 years of age or disease-free interval of >1 year. These recommendations are similar to those set out by the American Academy of Pediatrics nearly a decade ago for children with complex medical conditions (18).
By the age of 16, the patient and parent should be prepared for the adult model of care. This includes changes in legal informed consent, ability to self-advocate, and medical decision making. Before the age of 18, a date for transition should be chosen, unless the patient has active medical issues. The primary physician should initiate all aspects of care transition. The primary physician is typically the pediatric surgeon, after a baby has undergone a pull-through (though occasionally the pediatric gastroenterologist takes ownership). Therefore, we recommend the pediatric surgeon help the family prepare summaries of the medical and surgical history and an emergency care plan (Appendix 1 and 2, Supplemental Digital Content, http://links.lww.com/MPG/B653). Transition policies and surveys should be put in place and reviewed periodically, and these could be paper based or integrated into the medical record. We recommend using resources from GotTransition.org and tailoring questions to issues specific to patients with HD.
While scoring systems exist for patients with HD, they are not routinely used. It would be useful to adapt an existing system or develop a new model to identify higher-risk patients (15). Patients who would benefit from closer follow-up include those with TCA or long-segment disease, psychological, behavioral, or developmental disabilities, all of which are associated with increased incidence of long-term bowel dysfunction. These high-risk patients, and any patients requiring ongoing bowel management, will need particularly close follow-up.
Patients with HD are now presenting later in life with problems previously infrequently encountered by colorectal surgeons or gastroenterologists. Some patients are still being managed by pediatric surgeons, regardless of age, but there are likely others who are suffering in silence or those who leave their pediatric surgeon, despite ongoing symptoms (19,20). We still have work to do to accurately quantify the degree of bowel dysfunction, to optimize patients’ long-term function and quality of life, and to better understand the psychosocial consequences of this disease. Formalized transition programs are needed for this patient population. By providing necessary background and offering tools to successfully transition these patients, our hope is to encourage pediatric surgeons, even in smaller communities, to focus on the specific needs for patients with HD and to facilitate their transition to the adult setting.
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