Clinical Case Summary

Woman, 51 years old, farmer, past history of pelviperitonitis when 46 years old and family history of gastric and breast neoplasm.
She was admitted to the Emergency Department for abdominal pain for 2 years and 4 months of diarrhoea (without blood or mucus), anorexia, weight loss (12%), arthralgias and asthenia.
Analysis results: Hb 8.2mg/dL, leukocytosis 11200x10³/µL, thrombocytosis 63131x10³/µL, abnormal liver tests, CRP 6mg/dL, iron deficiency and hypoalbuminemia (2.5g/dL).
Abdomen-pelvic CT and MRI revealed cystadenocarcinoma of the right ovary with bilateral supraclavicular, axillary and inguinal adenopathy.
After observation by Gynaecology, she was referred to Palliative Care and for evaluation in a tertiary hospital. There, after a multidisciplinary discussion, an etiological study of diarrhoea was carried out, and laboratory evaluation was negative.
The imaging exams were then re-assessed: the presence and morphology of the adenopathy, the mesenteric lymph nodes conglomerate and jejunal thickening suggested the diagnosis of Whipple's disease.
An enteroscopy was also performed: duodenum and proximal jejunum’s mucosa was hyperaemic, oedematous and friable. Biopsies showed expansion of the lamina propria by lymphangiectasias, fat droplets and dense and multifocal aggregates of foamy macrophages with positive PAS-D (periodic acid-schiff with diastase) cytoplasmic granules, Ziehl-Neelsen negative.
A malignant ovarian tumour was excluded: the multiloculated cystic tumour of the right ovary was actually a cystadenofibroma – a diagnosis additionally confirmed by suprapubic and transvaginal ultrasound.
After treatment with intravenous ceftriaxone, the patient showed clinical improvement with resolution of pain, normal intestinal transit and recovery of nutritional status. Eight months after, she maintains antibiotic therapy, with no evidence of recurrence.
This case highlights the need for a low suspicion threshold for diagnosing this rare and benign disease.

References

Boumaza A, Ben Azzouz E, Arrindell J, Lepidi H, Mezouar S, Desnues B. Whipple's disease and Tropheryma whipplei infections: from bench to bedside. Lancet Infect Dis. 2022 Oct;22(10):e280-e291. doi: 10.1016/S1473-3099(22)00128-1. Epub 2022 Apr 12. PMID: 35427488.

Clinical Case Summary

Case report: A 47-year-old woman presented with persistent abdominal bloating, cytolysis and hyperalkaline phosphatase. The patient was underweight. Over 10 years, pancreatic hyperamylasemia (>900 U/l), thrombocytopenia and anemia with low iron and folate levels are observed. Medical history - one spontaneous abortion, 2 children conceived by in vitro fertilization. Viral, autoimmune and genetic liver diseases, autoimmune thrombocytopenia, macroamylasemia, Helicobacter pylori and Giardia lamblia infection were excluded. Immunoglobulins and calprotectin were normal. Serological tests for Celiac disease (CD) detected a positive result only for antigliadin Ig G. Abdominal tomography scan did not detect pathological changes. Duodenoscopy revealed flattening of the intestinal villi suggestive of CD. Duodenal biopsy determined a morphological picture characteristic of CD: type 3c/B2 according to the Marsh-Oberhuber criteria. It was recommended a gluten-free diet, iron and folate therapy. At repeated check-up after 3 months, the patient's condition showed significant improvement, and no changes were detected in the laboratory tests.
Discussion: CD can be diagnosed at any age and can present with a wide range of associated or isolated clinical manifestations. Evaluation of the causes of various biological abnormalities may lead to the diagnosis of CD. The presented case highlights atypical clinical presentations that can be associated with CD. Despite the evolution of serological test performances, there are significant problems regarding the diagnosis in atypical conditions, especially in the patient with intestinal atrophy. In such situations, the intestinal biopsy remains the gold standard diagnosis for CD.
Conclusion: The non-classical clinical presentation of CD is becoming increasingly common in the daily practice of the physician, which requires an awareness of its many clinical faces with atypical forms.

References

- 2 illustrative materials with fragments of biopsy from duodenal mucosa (A - complete villous atrophy, stage 3c according to Marsh-Oberhuber, cryptic hyperplasia by numeral growth and depth of the glandular layer. B - m​arked lymphocytic infiltrate within the lamina propria, minor eosinophilia, hyperplastic crypts, slightly distorted architecture, complete villous atrophy).
- 4 illustrative materials from duodenoscopy

Disclosure

None to declare.

Clinical Case Summary

Whipple’s disease (WD), caused by Tropheryma whipplei, is a rare, multisystemic infection with a wide spectrum of clinical presentations. It may manifest acutely with nonspecific symptoms such as diarrhea, abdominal pain, fever, and fatigue, or present chronically. Diagnosis can be challenging due to its diverse manifestations, including cardiac, pulmonary, and neurological involvement. We describe a case of a 54-year-old male with a background of peroneal nerve dysfunction, admitted for progressive epigastric pain, nausea, vomiting, altered bowel habits, and recent mood changes. A comprehensive diagnostic evaluation was undertaken, including blood tests, abdominal ultrasound, computed tomography, and upper gastrointestinal endoscopy with biopsy. Diagnostic investigations revealed elevated cholestatic and pancreatic enzymes, raised CRP and ferritin levels, esophagitis, and distal duodenal swelling obstructing endoscope passage with inflammation around the ampulla of Vater. There were features of chronic pancreatitis with calcifications, pseudocysts (up to 27 mm), dilated Wirsung’s duct, and enlarged crescent lymph nodes. Histopathology showed extensive macrophage infiltration, and PAS staining was suggestive of T. whipplei infection. The patient was successfully treated with Ceftriaxone 2g orally daily for 30 days, followed by Trimethoprim/Sulfamethoxazole 960mg twice daily for one year. This case highlights an atypical presentation of WD, manifesting as upper gastrointestinal obstruction and recurrent acute pancreatitis, probably due to duodenal and ampullary inflammation impairing bile flow. It underscores the importance of considering WD in the differential diagnosis of complex and unexplained gastrointestinal symptoms. Presentations involving upper gastrointestinal obstruction and pancreatitis are rare. Early identification through intestinal biopsy and appropriate antimicrobial therapy is critical to avoid irreversible complications and improve outcomes.

References

Illustrative material:
1. Upper gastrointestinal endoscopy: view of the descending duodenum
2. Abdominal CT scan
3. Pathological findings: PAS staining

Clinical Case Summary

Background: Chronic intestinal pseudo-obstruction (CIPO) is a rare syndrome in which the symptomatology of intestinal obstruction occurs without any mechanical cause. This syndrome may reveal or complicate celiac disease during follow-up.
Cases presentation: We report two cases of 40 and 24-year-old women. The first is followed since the age of 8 for celiac disease on a poorly followed gluten-free diet and consulted for repeated pseudo-occlusive syndromes. the second was admitted to the surgery department for a recurrent occlusive syndrome which resolves after gastric aspiration, then referred to our service for exploration of chronic diarrhea. For both, no mechanical obstruction was found. Ionic disorders and lymphoma were also ruled out. The diagnostic of CIPO was retained. The intestinal mucosal biopsy was characteristic of celiac disease. The evolution was favorable under a gluten-free diet. Symptoms of CIPO never recurred.
Conclusion: Our observations highlight that CIPO may be a rare and severe complication of celiac disease, which should always be suspected since the gluten-free diet can improve symptoms and prevent recurrences.

Introduction

During the COVID-19 pandemic the British Society of Gastroenterology (BSG) introduced interim guidelines supporting a non-biopsy pathway for the diagnosis of coeliac disease. These guidelines reflect the current recommendations of the American Gastroenterological Association (AGA). According to these guidelines, symptomatic or high risk adults with anti-Tissue transglutaminase (TTG) IgA titres ≥10× the upper limit of normal (ULN) and a positive endomysial antibody (EMA) on a repeat sample can be diagnosed without endoscopy and referred directly to a specialist coeliac clinic. Patients who do not meet these criteria should be referred for a gastroscopy (OGD) with biopsy for the confirmation of coeliac, prior to starting a gluten free diet.

Aims & Methods

To assess whether general practitioners (GPs) in the community appropriately referred patients with suspected coeliac disease in line with the AGA and BSG interim non-biopsy diagnostic criteria.
A retrospective review was conducted of all new patients referred to the Coeliac clinic in Galway university hospital between January 2023 and December 2024. Data regarding TTG level at diagnosis, EMA result, and compliance with the diagnostic pathway outlined above was collected for each new referral. This data was collected via Evolve - the hospital's electronic based patient record system.

Results

• There were 119 “new” referrals to our Coeliac Service between January 2023 and December 2024. Of these, 44 cases were known coeliac who were referred by primary care for re-engagement with the clinic, 18 were referred from secondary or tertiary care including GI surgery, Dermatology, Paediatrics, etc. 4 coincidental diagnoses (i.e. OGD performed for indications other than coeliac disease), and 5 outliers (i.e. with incomplete data or incorrectly referred to coeliac clinic) leaving 48 new coeliac cases referred from primary care.
• 18 of these referrals met the non-biopsy criteria for diagnosis (TTG ≥100 + positive EMA)
  • Within this cohort 66% (n=12) were incorrectly referred directly for an OGD which may have delayed the diagnosis of coeliac disease while the remaining 33% (n=6) were correctly referred for direct review at the coeliac clinic.
• The remaining 29 patients all had TTG values less that 10x ULN. 48% (n=14) of these patients were incorrectly referred to clinic prior to endoscopy and of greater concern, 45% (n=13) were recommended by their primary care physician to start a gluten free diet prior to any review or endoscopic procedure.
• Overall, only 44% (n=21) of referrals were compliant with the AGA/BSG guidance.

Conclusion

There is a notable gap in adherence to AGA and BSG non-biopsy coeliac diagnostic guidance in community settings. Half of patients eligible for a non-biopsy diagnosis underwent unnecessary endoscopy, and the majority of ineligible patients were commenced on a gluten free diet prior to, or without, referral for endoscopy. Further GP education is warranted to align referral practices with evidence-based pathways. Dedicated streamlined referral pathways for coeliac disease should ensure a timely diagnosis without mandatory endoscopy in those fulfilling the criteria for a non-biopsy diagnosis and facilitate a timely endoscopy prior to gluten elimination in those who require histological diagnosis.

References

Husby, S., Murray, J.A. and Katzka, D.A. (2019) ‘AGA clinical practice update on diagnosis and monitoring of celiac disease—changing utility of serology and histologic measures: Expert review’, Gastroenterology, 156(4), pp. 885–889. doi:10.1053/j.gastro.2018.12.010.
Tashtoush, L.B. et al. (2021) ‘Letter: The BSG covid‐19 interim coeliac disease guidance no‐biopsy approach is safe in adults’, Alimentary Pharmacology & Therapeutics, 54(8), pp. 1090–1092. doi:10.1111/apt.16553.

Disclosure

No conflict of interest