Genome-wide analysis of 944 133 individuals provides insights into the etiology of haemorrhoidal disease.

OBJECTIVE: Haemorrhoidal disease (HEM) affects a large and silently suffering fraction of the population but its aetiology, including suspected genetic predisposition, is poorly understood. We report the first genome-wide association study (GWAS) meta-analysis to identify genetic risk factors for HEM to date. DESIGN: We conducted a GWAS meta-analysis of 218 920 patients with HEM and 725 213 controls of European ancestry. Using GWAS summary statistics, we performed multiple genetic correlation analyses between HEM and other traits as well as calculated HEM polygenic risk scores (PRS) and evaluated their translational potential in independent datasets. Using functional annotation of GWAS results, we identified HEM candidate genes, which differential expression and coexpression in HEM tissues were evaluated employing RNA-seq analyses. The localisation of expressed proteins at selected loci was investigated by immunohistochemistry. RESULTS: We demonstrate modest heritability and genetic correlation of HEM with several other diseases from the GI, neuroaffective and cardiovascular domains. HEM PRS validated in 180 435 individuals from independent datasets allowed the identification of those at risk and correlated with younger age of onset and recurrent surgery. We identified 102 independent HEM risk loci harbouring genes whose expression is enriched in blood vessels and GI tissues, and in pathways associated with smooth muscles, epithelial and endothelial development and morphogenesis. Network transcriptomic analyses highlighted HEM gene coexpression modules that are relevant to the development and integrity of the musculoskeletal and epidermal systems, and the organisation of the extracellular matrix. CONCLUSION: HEM has a genetic component that predisposes to smooth muscle, epithelial and connective tissue dysfunction.

German evidence and consensus-based (S3) guideline: Vaccination recommendations for the prevention of HPV-associated lesions.

Anogenital and oropharyngeal infections with human papilloma viruses (HPV) are common. Clinically manifest disease may significantly impact quality of life; the treatment of HPV-associated lesions is associated with a high rate of recurrence and invasive neoplasms, such as cervical, anal, vulvar, penile, and oropharyngeal cancers, which are characterized by significant morbidity and mortality. Vaccination against HPV is an effective and safe measure for the primary prevention of HPV-associated lesions, but immunization rates are still low in Germany. The present publication is an abridged version of the German evidence and consensus-based guideline "Vaccination recommendations for the prevention of HPV-associated lesions", which is available on the website of the German Association of the Scientific Medical Societies (AWMF). On the basis of a systematic review with meta-analyses, a representative panel developed and agreed upon recommendations for the vaccination of different populations against HPV. In addition, consensus-based recommendations were developed for specific issues relevant to everyday practice. Based on current evidence and a representative expert consensus, these recommendations are intended to provide guidance in a field in which there is often uncertainty and in which both patients and health care providers are sometimes confronted with controversial and emotionally charged points of view.

German S1 guidelines for the diagnosis and treatment of perianal dermatitis (anal eczema).

Perianal dermatitis (anal eczema, perianal eczema) is one of the most common proctological conditions. It may occur as a sequela or a presenting symptom of various proctological, dermatological, allergic or pathogen-induced disorders. The three main types of anal eczema are irritant-toxic, atopic and allergic contact dermatitis. Adequate and successful treatment requires a comprehensive diagnostic workup to determine disease etiology and includes treatment/elimination of causative factors as well as nonpharmacological interventions (avoidance of aggravating factors). In addition, adjuvant topical anti-inflammatory and/or specific symptomatic treatment may be required. The present guidelines contain recommendations for the diagnostic and therapeutic management of perianal dermatitis. Target users of these guidelines are clinicians in the fields of dermatology and proctology, as well as all other specialties involved in the management of patients with perianal dermatitis, both in hospital and office-based settings.

[Surgical Management of Advanced Haemorrhoid Disease - What's the Deal?] / Operative Verfahrenswahl beim fortgeschrittenen Hämorrhoidalleiden ­ worauf kommt es an?

About 2 - 3 million patients suffer from haemorrhoid disease in Germany each year. Advanced haemorrhoid disease is assumed if an operation is planned. In Germany, approximately 50,000 operations per year are performed for haemorrhoids. Individual therapy and surgery are implemented after proctological examination. A wide variety of surgical procedures are available. These techniques will be described and illustrated. Individual comorbidities such as anticoagulation and will be discussed, together with options for teaching these surgical skills - in times of difficult recruitment.

Sacral nerve modulation for fecal incontinence: results of a prospective single-center randomized crossover study.

BACKGROUND: Although sacral nerve modulation has become an important tool for the treatment of fecal incontinence, prospective, randomized data are still rare. OBJECTIVE: To determine the effectiveness of sacral nerve modulation in a prospective randomized crossover study DESIGN: : Prospective randomized crossover study SETTING: : Proctological Office and Department of Surgical Proctology at a private hospital. PATIENTS: A total of 31 consecutive patients (31 women) aged 55 ± 12 years (median ± SD) with fecal incontinence were enrolled between February 2012 and December 2012. INTERVENTIONS: All patients underwent sacral nerve modulation through a staged implantation procedure between 2009-2011. After a median of 26.8 months following implantation, 16 of the 31 patients agreed to be randomized in a crossover design to stimulation ON or OFF, each for a 3-week period. After the two periods (ie, 6 weeks), while still blinded to the stimulator status, the patients chose which stimulation period (first or second) they preferred. The mode of stimulation corresponding to the selected period was then continued for 3 months (final period). MAIN OUTCOME MEASURES: Frequency of bowel movements, frequency of fecal incontinence and urgency episodes, severity scores, preference for ON or OFF. RESULTS: The frequency of fecal incontinence episodes and Cleveland Clinic Incontinence Score (CCIS) were both significantly lower in the ON period than the OFF period (p < 0.005) during the crossover phase of the study. All patients decided to stay in the ON mode for the final period and have continued in the ON mode until now. LIMITATIONS: Small patient numbers. CONCLUSIONS: The significant improvement in fecal incontinence during the ON period, as compared to the OFF period, makes it unlikely that the observed benefits of sacral nerve modulation are due to a placebo effect.

Comment on Pata et al. Sclerobanding (Combined Rubber Band Ligation with 3% Polidocanol Foam Sclerotherapy) for the Treatment of Second- and Third-Degree Hemorrhoidal Disease: Feasibility and Short-Term Outcomes. J. Clin. Med. 2022, 11, 218.

Dr. Pata kindly tweeted the publication of the above-mentioned paper [...].

Six years after: complications and long-term results after stapled hemorrhoidopexy with different devices.

PURPOSE: Stapled hemorrhoidopexy (SH) was introduced in 1998. Early in the experience, a standard circular stapler was often used, while later specifically designed staplers for SH were developed. Although the diameter of the circular cutting knife differ significantly, it remains unclear, if the volume of the excised tissue differs and if this has an influence on the long-term results and complications. METHODS: We evaluated in a prospective consecutive database that underwent SH from January 2003 through April 2004. There were three devices used during the study period: end-to-end-anastomosis (EEA) 31, stapler device for haemorrhoids (SDH) and procedure for prolapse and haemorrhoids (PPH). Procedure selection was at the discretion of the surgeon; however, the indications for surgery were similar for all involved surgeons. Demographic and operative characteristics were analysed. Follow-up data were collected continuously over the time, and in May 2010, these patients received a questionnaire. Data were compared by t test and chi-square test, respectively. RESULTS: There were 214 (97 females) evaluable patients. Seventy-three patients were operated with EEA-31, 52 with SDH- and 89 with PPH. The median follow-up was 6.8 years and complete data were available for 131 (61.2%) patients. Demographic characteristics were comparable within the three groups. SDH (6 ml) and PPH (6.5 ml) resected significantly (p < 0.05) more tissue than EEA (5 ml). Early postoperative incontinence rate was significantly higher in the PPH group (6%) as compared to EEA (1%) and SDH (0%). The incidence of other early complications was similar across techniques. The overall complication rates and reoperation rates were similar. Although 41% of the patients had minor anorectal complaints (itching and soiling), incontinence rates were low (2-3%) without any significant differences between the devices. CONCLUSIONS: The results of cohort of SH patients support the conclusion that short- and long-term outcomes are device independent, although each approach is associated with a modest degree of ongoing anorectal symptoms.

Rethinking the causes of pilonidal sinus disease: a matched cohort study.

Our understanding of pilonidal sinus disease (PSD) is based on a paper published 29 years ago by Karydakis. Since then, surgeons have been taught that hair more easily penetrates wet skin, leading to the assumption that sweating promotes PSD. This postulate, however, has never been proven. Thus we used pilocarpine iontophoresis to assess sweating in the glabella sacralis. 100 patients treated for PSD and 100 controls were matched for sex, age and body mass index (BMI). Pilocarpine iontophoresis was performed for 5 min, followed by 15 min of sweat collection. PSD patients sweated less than their matched pairs (18.4 ± 1.6 µl vs. 24.2 ± 2.1 µl, p = 0.03). Men sweated more than women (22.2 ± 1.2 µl vs. 15.0 ± 1.0 µl in non-PSD patients (p < 0.0001) and 20.0 ± 1.9 µl vs. 11.9 ± 2.0 µl in PSD patients (p = 0.051)). And regular exercisers sweated more than non-exercisers (29.1 ± 2.9 µl vs. 18.5 ± 1.6 µl, p = 0.0006 for men and 20.7 ± 2.3 µl vs. 11.4 ± 1.4 µl, p = 0.0005 for women). PSD patients sweat less than matched controls. Thus sweating may have a protective effect in PSD rather than being a risk factor.

Complications, recurrences, early and late reoperations after stapled haemorrhoidopexy: lessons learned from 1,233 cases.

PURPOSE: The purpose of the study was to analyse the outcomes of all patients requiring a reoperation after an initial circular stapled haemorrhoidopexy (SH) for prolapsing haemorrhoids. METHODS: Data of all patients undergoing a circular SH from 1998 thru 2007 available in a prospectively collected database were reviewed, and all patients who had reoperations were studied. RESULTS: During the study period, 1,233 patients (551 females, median age 52 years) underwent a circular SH. Complete follow-up was available in all patients (median follow-up 7 months, range 0.5-100); 127 patients (10.3%) required one or more reoperations. Early reoperations (<30 days) were necessary in 47 patients (3.8%), and 45 (3.6%) were stapler-related complications. Late reoperations (>30 days) were performed in 84 patients (6.8%) and 57 (4.6%) were stapler-related. A learning curve was observed with significant reduction of early (<30 days) and late (>30 days) reoperation rate with time. CONCLUSIONS: Reoperations after SH are necessary in about 10% of the patients. The majority of the reoperations are due to either complications arising from circular SH, recurrent/persistent haemorrhoidal symptoms or other anorectal issues not addressed by the circular SH procedure (3.8% early; 6.8% late). Circular SH appears to be an effective procedure for symptomatic haemorrhoidal disease; however, training and learning curve issues should be addressed to minimise treatment failures.

[Pain therapy in proctology]. / Schmerztherapie in der Proktologie.

Pain in the anorectal region can be quite considerable. They can be treated effectively however. Before treatment the correct diagnosis is important. In each pain regimen it is important that patients have a normally sized stool (Bristol stool form scale type 4). Diclofenac (3 dd 50 mg) should be routinely used in anorectal pain. If diclofenac does not sufficiently relieve the pain, one should add metamizole or tramadole. Topically relaxing or analgetic agents (glyceryl trinitrate, botulinum toxin A, diltiazem, nifedipin, metronidazole, cincho- or lignocaine) might be used in selected cases. If edema exists topical steroids might have an analgetic effect.

Perianal streptococcal dermatitis: an important differential diagnosis in pediatric patients.

Perianal streptococcal dermatitis is an infectious disease that predominantly affects younger children and is mostly caused by Group A beta-hemolytic streptococci. Although patients are mostly seen primarily by their pediatrician or family physician, the diagnosis is not infrequently established just after referral to a dermatologist or colorectal surgeon. We report a case series of 124 children, aged 14 years or younger, who were seen at our office for anorectal complaints between February 2003 and September 2006. Twenty-one of 124 patients (16 percent) were diagnosed with perianal streptococcal dermatitis on the basis of a positive perianal swab by microbiologic analysis. Perianal streptococcal dermatitis was the most frequent infectious disease in that age group in our practice. Sixteen (of 21, 76 percent) patients were male, and the mean age was 6.3 years. One course of systemic antibiotic treatment augmented by additional local antiseptic ointment in selected cases cured all patients within 10 to 14 days. One patient presented with a new perianal streptococcal dermatitis episode five months after treatment and was successfully retreated with an oral antibiotic. With this report, we wish to alert the colorectal community of the diagnosis because it may be underdiagnosed in our practices and thereby lead to prolonged discomfort, protracted disease, and potentially harmful sequelae for these typically very young patients.