Rectal cancer mimic: a rare case of syphilitic proctitis
- 1 Radiology, University Hospitals of Leicester NHS Trust, Leicester, UK
- 2 Infectious Diseases Unit, University Hospitals of Leicester NHS Trust, Leicester, UK
- 3 Pathology, University Hospitals of Leicester NHS Trust, Leicester, UK
- Correspondence to Dr Rajashri Veeresh Patil; rajukalappanavar@yahoo.co.in
Abstract
Syphilitic proctitis is a rare presentation of sexually transmitted infection that poses a diagnostic challenge as it mimics rectal cancer clinically, radiologically and endoscopically. We report a case of a 66-year-old male patient with a background of HIV infection presenting with obstructive bowel symptoms and initial diagnosis of rectal cancer on CT. Sigmoidoscopy and histopathology were non-diagnostic. A diagnosis of secondary syphilis was suspected after obtaining sexual history and diagnostic serology, avoiding planned surgical intervention.
Background
Syphilitic proctitis is a rare condition, but over recent years, there has been a rising incidence of syphilis diagnoses, particularly among men who have sex with men (MSM). This case report highlights the need of general physicians and radiologists to be aware of this condition as it can often be misdiagnosed clinically, radiologically and endoscopically. A prompt diagnosis will avoid unnecessary morbidity resulting from inappropriate or delayed treatment.
Case presentation
A 66-year-old retired businessman presented to the adult emergency department with a 10-day history of severe generalised abdominal pain and constipation. He was diagnosed with HIV-1 infection 14 years earlier when presenting with miliary tuberculosis and was well controlled (last CD4 count 520 cells/mm3, HIV viral load <40 copies/mL, 4 months before presentation) on maraviroc 150 mg two times per day with emtricabine 200 mg, darunavir 800 mg and ritonavir 100 mg once daily. Previous routine Treponema antibody testing was negative (last performed 4 months before presentation). Examination revealed generalised abdominal tenderness and an empty rectum.
Investigations
Full blood count, urea and electrolytes and serum carcinoembryonic antigen were normal. Abnormal liver function (alkaline phosphatase 552 IU/mL, normal range 30–130; alanine transaminase 92 IU/mL, normal range 2–53) and elevated C reactive protein 60 mg/L were found. Hepatitis B and C virus serology was negative. HIV viral load was <40 copies/mL. A contrast-enhanced CT scan of the abdomen and pelvis showed non-dilated small and large bowel but diffuse mucosal thickening in the rectum with perirectal fat stranding and multiple enlarged mesorectal lymph nodes (figure 1). Rectal cancer was suspected from the CT findings. Sigmoidoscopy and CT of the chest were advised. The CT of the chest was unremarkable. Sigmoidoscopy showed two distinct low rectal lesions with surrounding oedema and erythema (figure 2).
(A) Axial contrast-enhanced CT of the pelvis showing diffuse rectal wall thickening (white arrow) and adjacent mesorectal nodes (black arrow). (B) Coronal contrast-enhanced CT of the pelvis showing diffuse rectal wall thickening (white arrows) and adjacent mesorectal nodes (black arrows).
Sigmoidoscopy showing two distinct rectal lesions with surrounding oedema and erythema.
An MRI was requested for fuller evaluation. This showed diffuse rectal mucosal and wall thickening. The mucosa showed high T2-weighted (T2W) signal with associated restricted diffusion. Abnormal mesorectal nodes also restricted (figure 3). The diffuse appearances were not considered typical for rectal cancer and the possibility of a lymphoid malignancy was raised.
(A) Axial T2W MRI showing diffusely thickened rectum (white arrows). (B) Coronal T2W MRI showing diffusely thickened rectum (white arrows) and abnormal mesorectal node (black arrow). (C) Diffusion-weighted MRI (DWI MRI) showing areas of restricted diffusion (white arrows).
Histology of the rectal biopsy (figure 4) showed chronic lymphoid and neutrophil inflammatory infiltrate and mucosal prolapse type changes with ulceration and granulation tissue . There was no dysplasia or malignancy. Abundant plasma cells were present which is a recognised feature of Treponema Pallidum. However Warthin-Starry staining (special silver staining for T. Pallidum) was negative.
(A) Mucosal prolapse type changes with smooth muscle slips extending up between large bowel crypts (magnification ×100; H&E stain). (B) Abundance of plasma cells in the lamina propria (magnification ×400; H&E). Elsewhere there was ulceration.
Infectious diseases opinion was sought. Sexual history identified MSM and unprotected anal intercourse with a new male partner. Rectal swabs were negative by PCR for Neisseria gonorrhoea and Chlamydia trachomatis. Serum Treponemal antibody (Treponema pallidum particle agglutination assay) and Treponema IgM were positive with rapid plasma reagin (RPR) titre 1:32 indicating recent active syphilis infection. In view of a developing headache, lumbar puncture was performed which found mild cerebrospinal fluid pleocytosis, elevated protein 0.96 g/L (normal range 0.1–0.45 g/L) with positive Treponema TPPA and negative RPR. He was diagnosed with early syphilis. The rectal ulceration was felt to represent a primary chancre overlapping with manifestations of secondary syphilis including syphilitic hepatitis and meningo-vascular involvement.
Differential diagnosis
The initial diagnosis for the CT findings of diffuse rectal thickening with local lymphadenopathy was rectal malignancy in keeping with the presentation and age. MRI findings were not, however, typical for rectal malignancy and raised the suspicion of a lymphoproliferative disorder. Other potential differentials for rectal lesions in the general population would include inflammatory bowel disease but this was felt less likely given the history and imaging characteristics. Among MSM, infective pathogens should also be considered including Chlamydia trachomatis, Neisseria gonorrhoea, Herpes simplex virus and Lymphogranuloma venereum.1
Treatment
He received 2.4g of intravenous benzyl penicillin administered every 4 hours for 14 days.
Outcome and follow-up
His headache and gastrointestinal symptoms resolved following treatment. Follow-up MRI after 3 months demonstrated improvement in the rectal findings and regression of lymph nodes (figure 5). Serum RPR declined to 1:4 at 3, 6 and 9 months and was negative at 12 and 18 months post treatment, indicating acceptable serologic response (≥4 fold decline required). Liver function abnormalities had resolved by 3 months post treatment. His partner was diagnosed with active syphilis and successfully treated.
(A) Axial T2W MR shows improvement in rectal appearances (white arrows) post benzyl penicillin treatment with resolution of mesorectal adenopathy. (B) Coronal T2W MR shows improvement in rectal appearances (white arrows) post benzyl penicillin treatment with resolution of mesorectal adenopathy. (C) DWI MR shows improvement in areas of previous restricted diffusion (white arrows).
Discussion
Syphilis is caused by the spirochaetal bacterium T. pallidum. Syphilis accounted for 1.7% of all sexually transmitted infections in England in 2019 .2Over the last decade, there have been rising rates of primary and secondary syphilis; from 2018 to 2019 it has increased by 10%,2 particularly among MSM, associated with use of methamphetamines, social media dating apps and multiple sexual partners.3
Syphilis presents with a wide range of symptoms, so the threshold for serologic testing should be low. Primary syphilis typically presents as a painless area of ulceration (chancre), most commonly on genitalia, but also at other sites of inoculation. Proctitis is often overlooked because of its low clinical incidence, so rectal presentations tend to be misdiagnosed clinically and radiologically as cancer,4–6 lymphoma7 or rarely inflammatory bowel disease.8 Although the chancre usually heals, infection generally progresses by haematogenous dissemination, and presents with a wide range of potential symptoms of secondary syphilis including hepatitis and neurological manifestations (as in this case), often with cutaneous rashes.
Spirochaetes are not easily isolated in culture, so serological testing is used for diagnosis and monitoring the response to therapy, but can be difficult to interpret. Specific antibodies to Treponema (eg, by enzyme immunoassay) generally remain positive for life following infection, so are not useful in diagnosing new infections in patients who have previously been treated. Non-treponemal tests (eg, RPR) are based on the reactivity of serum of infected patients to cardiolipin-like antigens and reflect the amount of serum antibody present providing a guide to activity of infection, and method of monitoring of response to treatment. However, as non-specific tests, they can result in false-negative results, especially in early infection.
In this case, clinical presentation and initial CT findings were suggestive of rectal cancer but not supported by MRI and sigmoidoscopy findings. Obtaining a sexual history with positive serology led to the diagnosis of secondary syphilis. In summary, a high index of suspicion, especially with high-risk patients, is needed to diagnose this rare condition. The clinical, endoscopic and radiological findings can often direct towards the wrong diagnosis and management.
Patient’s perspective
I visited accident and emergency department as I could not open my bowels for several days and had tummy pain. On admission, I was told I could have bowel obstruction so was sent for a CT scan and I was told from the CT scan that there might be concern of cancer which was shocking news for me. After that I had to have a camera test and doctors thought from the pictures that it is not looking like typical cancer and they took some tissue to send for testing. Meanwhile I was sent to have an MRI scan which also did not show a typical cancer picture and also had some blood tests. I was slightly relieved but still waiting for confirmation. Once they got all the results back, it was a big relief to hear the news that it is not cancer but some kind of infection which can be treated with medications. I was over the moon after hearing it. The period in between was very scary and long. Once treatment started my symptoms resolved. I am thankful to the all the teams involved in my care.
Learning points
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Syphilitic proctitis can mimic rectal cancer and lymphoproliferative disease leading to a delay in diagnosis and initiation of incorrect and potentially harmful treatment.
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Differential diagnosis for imaging finding of rectal pathology, particularly in men who have sex with men, should include sexually transmitted rectal infections including syphilis.
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When confronted with rectal pathology, the clinical team should remember to take a detailed history of sexual practice and preferences. They should work in collaboration with radiologists and endoscopists to reach the diagnosis.
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High index of suspicion especially with high-risk patients is the key for diagnosing this rare condition.
Acknowledgments
We thank patient and all the teams involved in the patient’s care.
Footnotes
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Contributors RP and YG were involved in the patient’s direct care by reporting some of the relevant imaging during the patient’s hospital admission with details provided in the case report. RP collected the relevant data and drafted the case report under the supervision of YG. Both authors contributed to the final version of the manuscript. IS was the consultant in infectious diseases and CR was the consultant histopathologist also involved in the patient’s care. Both have also contributed to the paper.
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Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
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Competing interests None declared.
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Patient consent for publication Obtained.
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Provenance and peer review Not commissioned; externally peer reviewed.
- © BMJ Publishing Group Limited 2020. No commercial re-use. See rights and permissions. Published by BMJ.
References
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