Background. Constipation-associated fecal incontinence (retentive functional fecal incontinence – RFFI) represents a significant problem, impacting both patients and families’ quality of life. Despite solid evidence regarding the proper management of RFFI, major mistakes are still made, leading to a poor long-term prognosis. Our aim was to highlight the most common mistakes in the management of RFFI and to suggest what could be done to avoid them. Patients and method. We performed a retrospective observational study on children diagnosed with RFFI admitted for fecal incontinence in the Second Clinic of Pediatrics, Department of Gastroenterology, Emergency Clinical Hospital for Children Cluj-Napoca, Romania. All data (clinical, laboratory and ultrasonography) were retrieved from the electronic files, both at admission and during the follow-up visits. Results. We selected 11 cases representative for the common mistakes, which were: extremely long delay in correct diagnosis, misdiagnosis and consequent inadequate therapeutic interventions, short period use of laxatives, use of therapies without any scientific evidence, and adopting the “wait and see” approach. Conclusions. We formulate suggestions on what could be improved in order to avoid the identified mistakes. Obtaining a detailed medical history and performing a complete physical examination, as well as adhering to the standard treatment protocol are essential. Ultrasonography represents a useful tool in diagnosis.
Introducere. Incontinenţa fecală asociată constipaţiei (incontinenţă fecală funcţională retentivă – IFFR) reprezintă o problemă majoră, afectând atât pacienţii, cât şi familiile acestora. În ciuda dovezilor ştiinţifice solide privind managementul corect al IFFR, în continuare persistă greşeli majore. Acestea duc la un prognostic nefavorabil pe termen lung. Scopul studiului a fost de a evidenţia cele mai frecvente greşeli în managementul IFFR şi de a formula sugestii privind modalităţile de evitare a acestora. Pacienţi şi metodă. Am efectuat un studiu retrospectiv observaţional al copiilor diagnosticaţi cu IFFR internaţi în Clinica Pediatrie 2, Compartimentul de gastroenterologie, Spitalul Clinic de Urgenţă pentru Copii din Cluj-Napoca, România. Toate datele (clinice, de laborator şi ecografice) au fost extrase din fişierele electronice, atât la diagnostic, cât şi în evoluţie. Rezultate. Am selectat 11 cazuri reprezentative pentru greşelile frecvente, identificând următoarele: timp îndelungat pentru stabilirea diagnosticului, diagnostic eronat şi intervenţii terapeutice neadecvate, durata scurtă de utilizare a laxativelor, folosirea unor tratamente fără evidenţe ştiinţifice şi adoptarea atitudinii „aşteaptă şi vezi”. Concluzii. Formulăm sugestii pentru ameliorarea managementului şi evitarea greşelilor. Obţinerea unei anamneze detaliate şi efectuarea unui examen obiectiv complet sunt esenţiale, la fel ca şi aderenţa la protocolul terapeutic standard. Ecografia este un instrument util în diagnostic.
Fecal incontinence (FI) continues to represent a difficult diagnostic and treatment challenge, even in the era when the characterization of childhood and adolescent motility disorders has substantially evolved(1). As the period between onset of symptoms and diagnosis increases, the chances for a successful treatment and a complete resolution of symptoms decrease substantially. Not only is the child prone to a lot of stigmatization and bullying, but the family itself will also suffer a profound impact(2,3).
FI represents a medical condition when passage of stools appears in inappropriate places, in a child, after the acquisition of toileting skills, being considered an issue after a developmental age of 4 years old(2). The term fecal incontinence replaced those previously used, like encopresis and fecal soiling. Depending on the underlying pathology, FI is classified into functional or organic(2,4). As the aim of this article is to have a better understanding of the correct management of the functional FI, organic FI will not be further discussed. Functional FI can appear as a consequence of functional constipation (FC) – defined as retentive functional FI (RFFI), or not associated with FC, defined as non-retentive functional FI(2). Among the two types of FI, the retentive one is much more common, with an incidence approximately 4.5 times higher than the non-retentive type. The classification of functional FI is based upon the underlying pathophysiological mechanisms. A clear difference must be made from the very beginning between the two types of functional FI, as the management differs significantly. Thus, children with RFFI must fulfill the Rome IV criteria for FC(5). At rectal examination, a child with retentive FI presents with a dilated rectum loaded with feces, which in time leads to FI via an overflow mechanism. In order for a child to develop RFFI, a long history of FC is usually present. Therefore, RFFI can be also considered as constipation-associated FI. There are several risk factors for the development of FC, such as social or environmental, psychological and physiological, respectively. Unfortunately, many cases lack an adequate management of FC (due to a variable range of factors), which consequently leads to FI. As mentioned, the diagnosis of FC is based on clinical criteria; however, other medical conditions must be excluded as well(5). Oftentimes, we aid the diagnosis by using the ultrasound (US) examination. According to the available literature, a rectal transverse diameter of 3.3 cm represents the cutoff value for constipation; therefore, a diameter above 3.3 cm indicates constipation. US has two important roles, such as confirming the rectal distension and to monitor the evolution under therapy(6,7). Indeed, it was proven that the rectal transverse diameter was significantly decreased after one month of adequate laxative therapy(7). The aim of this current retrospective observational study was to emphasize the common mistakes in the management of CF, leading to RFFI. Consequently, we formulated suggestions on what needs to be improved in our medical practice in order to avoid RFFI.
Patients and method
Study description and patients
This retrospective, observational study involved children admitted for FI to the 2nd Clinic of Pediatrics, Department of Gastroenterology, Emergency Clinical Hospital for Children Cluj-Napoca, Romania, between 2017 and 2020. All children had been treated by the same pediatric gastroenterologist (S.E.D., with more than 25 years of experience). RFFI was diagnosed using the Rome IV criteria for functional gastrointestinal disorders, as well as through the exclusion of organic causes for constipation(6,8). Among all children diagnosed with RFFI, we selected those with the most significant mistakes in FC management, in order to improve current knowledge and impact on clinical practice. Additionally, we searched among cases diagnosed between 2006 and 2016 and included other representative cases for common mistakes that could lead to misdiagnosis and severe errors in management. The informed consent was obtained in all cases.
Data collected from patients at the time of admission included: age at presentation, sex, onset of constipation and of FI, complete medical history and physical examination. During patients’ admission, we included the following data: laboratory investigations for organic causes of constipation, rectal transverse diameter measured by US, therapy and outcomes. During the follow-up period, we inquired about frequency of defecation, quantitative and qualitative characteristics of the stools, presence of FI, of stool-withholding behavior and of other symptoms, tolerance and compliance to treatment, diet and physical activity. The daily defecation journal was mandatory.
US was performed by the same radiologist (O.F., with over 25 years of experience), in order to measure the rectal transverse diameter, to confirm the dilation of the rectum and also to have a starting point when initiating the proper treatment. In all patients, we performed laboratory investigations to exclude organic causes for constipation, such as allergy, celiac disease, hypothyroidism and hypercalcemia.
Among the 564 cases with FC (2017-2020), 212 presenting also RFFI, we selected 9 cases with RFFI, considered most representative. Additionally, we included two patients, one diagnosed in 2006 and the other in 2014, representative for mistakes that could lead to misdiagnosis and severe errors in management. In all 11 cases, laboratory investigations to exclude an organic cause for constipation (such as allergy, celiac disease, hypothyroidism and hypercalcemia) were within normal limits. Among these cases, there were 6 females and 5 males. The mean age (±SD) of these patients was 11.3 (±4) years old. The clinical characteristics of patients (including demographics, age of the onset of symptoms, history, presentation, previous diagnoses and therapies, effects of therapy, abnormal physical examination at presentation), as well as findings at US are presented in Table 1 (in chronological order of patient’s diagnosis). All patients had non-pharmacological and pharmacological interventions as part of the therapeutic management. Non-pharmacological interventions were recommended in all patients and included dietary changes to promote daily soft stools without pain at defecation (a detailed list of allowed dietary components was provided to all patients), demystification of constipation and FI and careful explanation, toilet retraining and normal physical activity. The pharmacological therapy at admission and after discharge, including course of symptoms, is detailed in Table 2. Figures 1, 2 and 3 present the findings at US regarding rectal diameter at diagnosis, in patients 2, 10 and 11.
This retrospective, observational study was performed to emphasize the common mistakes made in the management of FC that could lead to serious complications such as RFFI. According to scientific literature, FC is detected in children up to 32.2%(9). Of all children attending general pediatric clinics, FI is encountered in 3-4.4%. With respect to the attendance of tertiary care pediatric gastroenterology units, 21% of all presentations are due to FI. Recent data showed that 75-90% of children with FC have RFFI(2). Therefore, a timely and correct therapeutic intervention will not only increase the patients’ quality of life, but also prevent them from developing behavioral, emotional and other difficulties, such as anxiety or depression, all related to FC and RFFI symptoms(2,3).
In our study, we identified the following mistakes: extremely long delay in correct diagnosis, misdiagnosis and consequent inadequate therapeutic interventions, short period use of laxatives, use of therapies without any scientific evidence and adopting the “wait and see” approach.
Extremely long delay in establishing the correct diagnosis
All patients in our study had a huge delay until the right diagnosis was made in our clinic. The mean time period (±SD) between the onset of symptoms and diagnosis was 5 (±0.5) years, which is unacceptable for the well-being of children and their families. However, another study in children with FC showed a similar mean time period between the onset of symptoms and diagnostic. What is really important is that this diagnostic delay was detected to be significantly correlated with a poor prognostic factor on the long term(10). Concerning the period between the onset of FC and RFFI, our study showed a mean time (±SD) of 2.6 (±2) years. Despite the fact that we could not find any data in the literature to compare with, the period between the onset of FC and RFFI appears long enough to act upon and initiate a proper management. Unfortunately, this proper management was not done in our patients. According to the available scientific literature, this delay is due to the lack of knowledge regarding FC, in both pediatricians and patients/their family(11). Consequently, the appropriate treatment is not initiated on time, leading to the aggravation of FC and the onset of FI. This fact is illustrated very well in our study, since all patients fulfilled the Rome IV criteria, and most of them had at least 4 criteria (including stool-withholding behavior, FI and large diameter stools that obstructed the toilet). There are interventions that should be implemented in order to resolve this issue. Therefore, to increase pediatricians’ knowledge, a better dissemination of recommendations, including training regarding both diagnosis and management of FC, is required. In addition, parents as well as the general public need to be informed through awareness campaigns. If required, the child should be examined in a pediatric gastroenterology unit(3,11). To support the extremely delayed diagnosis, we used the rectal transverse diameter measured by US. In 10 out of 11 cases, the US measurement was performed and showed megarectum (Table 1), in 9 cases the diameter being above 5.5 cm. The rectal transverse diameter measured in Case 10 was approximately 10 cm (Figure 2), which is the largest transverse diameter encountered by one of the most experienced radiologists (O.F.). The recent literature showed that the rectal diameter was significantly larger in children with constipation than in those without constipation, which is consistent with our study(6). Finally, a recent study concluded that both pediatricians and pediatric gastroenterologists were not familiar with the ESPGHAN/NASPGHAN guideline for FC(12). This finding played a part in the diagnostic delay. Therefore, future improvement on the guideline awareness and adherence is needed.
Misdiagnosis and consequent inadequate therapeutic interventions
As to the aforementioned mistakes, patients 1, 2, 5, and 11 are good examples in our study. The previous diagnoses made before admission were the following: peripheral neuropathy, Hirschsprung disease (HD), diarrhea, anal sphincter laxity and abdominal tumor. The best approach in all cases is to perform a complete physical examination along with a full medical history. Also, the presence of any alarm signs or symptoms (that could indicate an organic cause of constipation) needs to be excluded(2,8). Patient 5, with suspected peripheral neuropathy, did not have any proper medical history of constipation taken or any complete physical examination. Only after magnetic resonance imaging (performed for presumed neurological condition) showed a much dilated rectum (78 mm), the patient was sent to the pediatric gastroenterologist. We would also like to emphasize the importance of correctly differentiating HD from FC, with the use of practical clues. HD always involves the rectum, extending proximally on variable segments of the colon. The involved area does not relax, due to the absence of ganglia from the muscular and submucous plexuses. This leads to the dilation of the above situated normal area (denominated as “megacolon”). Usually, HD has an early onset and in 50% of children the meconium passage is delayed (>48 h from birth). Contrary to FC, feces are never large (appearance of ribbon-like stools), rectal examination shows a tight empty rectum, and there is no FI. In FC, if diagnosis and therapy are delayed, the dilation of rectum and/or other upper segments will lead to secondary megarectum and/or megacolon, respectively. The age of onset is variable (depending on the triggering factors) with large stools and often with FI. Regarding the medical history in HD, patients may display growth delay associated with abdominal distension and bilious vomiting, while children with FC show normal growth/development. In FC, the physical examination reveals a soft abdomen or with palpable fecal mass and the rectal exam shows a dilated rectum often filled with large hard stools, sometimes with feces around the anus or in the underwear(8). In our study, we identified two cases (1 and 2) previously misdiagnosed with HD (just by barium enema, without biopsy, which is contrary to all guidelines)(13). Moreover, in Case 2, partial colectomy was also performed, submitting the child to unnecessary intervention and significant risks. In order to differentiate between HD and FC, we used as guidance the information aforementioned(8,13). In our experience, more than 90% of patients with FC were referred to us with suspicion of HD, apparently given the appearance of stools – very large and bulky. We think that this mistake is due to the insufficient knowledge about HD, the general practitioners considering that “megacolon” means large stools. However, even though the name of HD is “congenital megacolon”, it refers to the dilated normal area, situated above the non-relaxed segment. Maybe a proper name of HD would have been able to avoid this frequent mistake. We would also like to mention the huge mistake that was to misdiagnose RFFI as being an organic FI (consequence of the anal sphincter laxity – Case 1) and to propose an anal encirclement. This would have only aggravated the patient’s condition, as there was no primary disorder of the sphincter. In Case 1, FI was misdiagnosed as diarrhea and a therapy with anti-diarrheal agents such as Smecta®, Imodium® and racecadotril was administered. It is true that diarrhea is defined as having at least three daily stools(14), but a detailed history of symptoms should differentiate between the two medical conditions. Also, not surprisingly, as shown in Case 11, a fecaloma could be misdiagnosed as a tumor. But what is more worrisome is that even when the “tumor” disappeared after the enema, suggesting a long history of constipation, no therapy was recommended thereafter and the child had been suffering for another three years before being admitted to our clinic.
Short period use of laxatives and use of therapies without any scientific evidence
The majority of patients (Cases 1, 2, 4-7, 9-11) had either a history of inconsistent laxative treatment, or therapies that are not supported by scientific evidence. Inconsistent laxative treatment refers to short period of drug administration or to inadequate laxative dosage. With respect to therapies not supported by scientific evidence, we identified a great range of products, from plant-based treatments to aromatherapy (Table 1). As we could predict, their evolution under inconsistent therapy was either temporary favorable or had no effect at all. Before initiating any type of treatment, it is crucial to take the time and explain the condition to the patient and family. The standard treatment protocol for FC and RFFI is disimpaction with high doses of PEG and/or rectal enema, followed by maintenance phase with oral laxatives(8). In our clinic, disimpaction was made successfully with enema in most patients (except for Case 7), leading to the elimination of a large quantity of feces (between 1 and 3 kg). This fact attests once more the long period of distress in these children, which should be avoided. PEG is the first-choice osmotic laxative used in children (over 6 months of age) with FC(8,15). A recent Cochrane systematic review also showed that PEG is significantly better than lactulose in terms of outcomes of stool frequency per week, form of stool, and relief of abdominal pain(16). However, we often added lactulose in the treatment scheme, as per the severity of FC and RFFI. In many cases, as mentioned in Table 2, due to severity of symptoms and the extreme megarectum, we had to add from the beginning other laxatives, like paraffin oil and sodium picosulfate. All these laxatives are recommended in severe cases of FC and FI, according to the ESPGHAN/NASPGHAN Guidelines(8). However, the use of so many laxatives could have been avoided if children had been diagnosed immediately after the onset of their symptoms.
Another crucial information that has to be explained to the patient/family is the necessity of a possible long-term therapy, like in our patients (Table 2). Myths regarding possible adverse events due to long-term use of laxatives have to be dismantled after clarification. Indeed, the possibility of adverse drug reactions was a recurrent concern for the majority of our patients’ families, before admission in our clinic. As we detected in our patients’ history, the majority of them discontinued shortly the laxatives after some improvement was observed and this discontinuation was followed by a relapse.
The adherence to the maintenance therapy is crucial in order to prevent the reaccumulation of feces and the reoccurrence of symptoms(15). In Case 3, noncompliance and loss of parental surveillance led to recurrence of symptoms, even though the child was aware of her condition (FI), preventing her from social activities (rejection by friends). Another important clue in order to prevent a relapse is to gradually wean the maintenance therapy in contrast to an abrupt stop(8,15). In Case 2, many events during the weaning phase led to relapse, with RFFI (recurrent infections, changing home). Even after completely weaning the laxative therapy after successfully achieving full control of symptoms, relapses can occur in 50% of patients during the first five years after therapy cessation(17). Therefore, in order to make an early catch of the relapse, it is recommended to evaluate symptoms again after two months of treatment cessation(2,8,15).
The “wait and see” approach
The “wait and see” approach was identified in all patients, over the time, sometimes with only dietary recommendations. Even though triggering factors (food-related, psychological and social) were detected in most patients (Cases 1, 2, 4, 7, 8, 9 and 11), nothing significant was done to improve their symptoms. In Case 3, there were no symptoms of FC and parents were waiting for FI to disappear by itself, while blaming the child. This blaming attitude was noticed in all patients with FI. When presenting the correct management, the cause of FI should be explained carefully to parents, who should start a positive non-accusatory approach to their child. The “wait and see” approach should never be adopted, as prompt and proper therapy is essential for prognosis. Supported by scientific proof, children who had FC and RFFI for a shorter period before admission achieved earlier success compared to children who had FC and RFFI for a longer period before admission(15). This is also closely related to the underlying pathologic and compensatory changes occurred in the capacity of muscle relaxation and contraction in the bowel wall.
Limitations of the study
This was a retrospective study, therefore it is possible that some minor details were not included. Also, the results cannot be generalized to the population due to the nature of the research. We did not include all patients with FC and RFFI from our registry, as our aim was to point out the mistakes commonly made when dealing with this pathology. Moreover, no measurement of rectal transverse diameter at US during the long-term management was performed, due to local regulations for indications of US.
FC and RFFI remain a public health concern, with deleterious effect on both the patient and the patients’ family quality of life. The aim of this study was to address the common mistakes made in the management of FC and RFFI, which were: extremely long delay in correct diagnosis, misdiagnosis and consequent inadequate therapeutic interventions, short period use of laxatives, use of therapies without any scientific evidence and adopting the “wait and see” approach. To further avoid them, we proposed several approaches that are in line with the international guidelines. Increasing the pediatricians and the patients’ families knowledge on FC and RFFI is a priority. This will decrease the extremely long delay in correct diagnosis. The retrieval of a full medical history associated with a complete physical evaluation are essential to avoid misdiagnosis. US represents a very useful tool in diagnosis, in all cases revealing a megarectum (huge dilation in some cases). When referring to the therapy challenges, adherence to the standard treatment protocol for FC and RFFI (disimpaction with PEG followed by long-term use of laxatives and progressive weaning off), as well as non-pharmacological interventions (including parental education towards a non-accusatory attitude towards their child) are the key to a therapeutic success on the long term.
Conflicts of interests: The authors declare no conflict of interests.
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