Clinical Case Summary

Clinical history: Patient S., a 26-year-old female born in 1995, presented with general weakness, altered bowel habits, and the presence of blood and mucus in her stool, which first appeared after a period of psycho-emotional stress in late 2018. She had a history of UC with total large intestine involvement, confirmed by morphological examination, and had previously been diagnosed with IBS and erosive sigmoiditis.
Investigations and differential diagnoses: The patient underwent outpatient and inpatient examinations at various hospitals between August 2020 and September 2021. Laboratory findings showed elevated creatinine levels (247 mmol/l), proteinuria (0.5 g/s – 0.2 g/s), and high ESR (80-89-57 mm/h). A nephrobiopsy was performed, revealing granulomatous interstitial nephritis. Differential diagnoses may include drug-induced interstitial nephritis, sarcoidosis, and other autoimmune disorders.
Difficult aspects: The case presents a rare extraintestinal manifestation of UC, granulomatous interstitial nephritis, which may be attributed to the toxic effects of 5-ASA medications. The association between kidney damage and UC is supported by the improvement in both intestinal and renal involvement following immunosuppressive therapy.
Final diagnosis: Granulomatous interstitial nephritis as a rare extraintestinal manifestation of ulcerative colitis.
Therapeutic approach: The patient underwent pulse therapy with methylprednisolone (1000mg) three times and received mesavant (3 t/day), resulting in improved clinical and laboratory parameters.
Points to be discussed: The role of 5-ASA medication toxicity in the progression of renal failure in UC patients.
The importance of regular monitoring of renal function in UC patients, especially those on long-term 5-ASA therapy.
The efficacy of immunosuppressive therapy, including pulse therapy sessions, in managing granulomatous interstitial nephritis associated with UC.

References

Laboratory analysis data
Nephrobiopsy results

Clinical Case Summary

Introduction: Ulcerative colitis (UC) is a chronic inflammatory disease characterized by remitting and relapsing patterns, necessitating multifaceted therapeutic interventions, among which mesalazine, or 5-aminosalicylic acid (5-ASA), is prominently utilized. Despite its typically favorable tolerability profile, mesalazine may occasionally precipitate severe adverse events, such as myocarditis.
Case presentation: A 46-year-old male recently diagnosed with UC presented with a moderate UC flare-up and was initiated on 5-ASA therapy upon admission.
Within a span of two days following initiation of oral therapy, he developed acute chest pain, palpitations, dyspnea, and desaturation, necessitating intensive care due to cardiogenic shock.
Paraclinical assessments revealed elevated troponin levels, along with electrocardiographic and echocardiographic abnormalities, including left ventricular dysfunction and reduced ejection fraction.
Discontinuation of mesalazine resulted in symptom improvement and reduction of cardiac markers. Subsequent evaluations demonstrated a recovery in cardiac function, establishing a causal relationship between myocarditis and the administration of 5-ASA. Consequently, a therapeutic switch to mercaptopurine was instituted.
Conclusion: This case underscores the infrequent yet significant hazard of mesalazine-triggered myocarditis, emphasizing the critical necessity for vigilant patient monitoring during this therapy and prompt consideration of alternative therapeutic options in the presence of severe cardiac complications.

Clinical Case Summary

Introduction. Differential diagnosis between extra-intestinal manifestations of inflammatory bowel disease and side effects of biologics is challenge. Even in the known setting of anti-tumor necrosis factor α agents (anti TNF α), cutaneous T-cell lymphoma (CTCL) carries potential risk to be missed due to indefinite early features mimicking psoriasis or eczema.
Case presentation. Thirty-two years non-smoker female had ulcerative colitis for 13 years. In September 2015, she suffered severe relapse followed by Infliximab introduction (the first dose was administrated on 10 October in 2015). She was good responder, disease remission confirmed on histology. In September 2018, patient reports frequent dermatology visits due to itchy skin lesion on her left earlobe (erythema, erosion, crust, squams) that progressed infiltrating almost half auricle despite local application of steroids and antibiotics. Skin biopsy was performed twice, and acquired samples were examined by two pathologists. First sample is considered for psoriasis. Second sample (acquired afterward) combined with revision of the first sample imposed multiple skin CTCL differentials due to indeterminate histology and biological behavior.
Our patient had her last infliximab administration on 25 February 2019. Since infliximab dismissal, we have followed up patient for 5 years and 2 months. Complete spontaneous regression, absence of CTCL recurrence implied that CTCL was biologics side effect.
Conclusion. Despite multidisciplinary approach diagnosing among justified differentials was a challenge, as follows: extra-intestinal manifestations of ulcerative colitis (Sweet syndrome) versus dermatological side effects of infliximab (eczema, anti TNF induced psoriasis and CTCL). Furthermore, indeterminate histology followed by unpredictable evolution of CTCL created slippery diagnostic path, that could be only hacked through afterward biopsy combined with revision of initial sample.

References

Mariette X, Tubach F, Bagheri H et al. Lymphoma in patients treated with anti-TNF: results of the 3-year prospective French RATIO registry. Ann Rheum Dis. 2010;69(2):400-408.
Mercer LK, Galloway JB, Lunt M et al. Risk of lymphoma in patients exposed to antitumour necrosis factor therapy: results from the British Society for Rheumatology Biologics Register for Rheumatoid Arthritis. Ann Rheum Dis. 2016
Rojas-Feria M, Eslam M, Castro- Fernandez M, et al. Cutaneous lymphoma in a patient with ulcerative colitis after immunosuppressive therapy. J Crohns Colitis 2011; 5: 608–11

Clinical Case Summary

Background and aims: Patients with ulcerative colitis are at risk of malnutrition due to prolonged disruption of normal intestinal function and may present with symptoms, such as muscle weakness and muscular atrophy. We report a case of ulcerative colitis with both muscle atrophy and decreased muscle strength not attributed to malnutrition.
Methods: A 33-year-old male presented with a 5-year history of decreased muscle strength in his lower limbs and a 6-month history of intestinal problems. The main signs of intestinal damage were changes in stool characteristics, such as mucopurulent faeces. To analyze the real cause of these symptoms, related literature was searched and reviewed.
Results: Despite the patient's long-standing lower limb muscular weakness, ulcerative colitis was initially diagnosed. It was unclear whether diarrhoea and muscle atrophy were the result of the same disease. Additional medical history was collected to further understand the diagnosis. Interestingly, we discovered that the patient's family history had reports of muscle weakness. Therefore, we hypothesised that muscle weakness was hereditary. Genetic testing suggested a DYSF mutation, which strongly supported the diagnosis of dysferlinopathy.
Conclusions: To the best of our knowledge, this is the first report of dysferlinopathy combined with ulcerative colitis being diagnosed in the same patient. Further studies are needed to assess potential pathophysiological relationship between these two diseases.

Clinical Case Summary

Crohn’s disease (CD) is a multi-factorial immune-mediated inflammatory condition of the gastrointestinal tract (GIT). While CD-related granulomas typically occur within the GIT, they can appear in other areas such as lymph nodes, mesentery, peritoneum, liver, and lungs. This case highlights a rare instance of renal granuloma secondary to CD and discusses an effective treatment approach. An 18-year-old male presented to a GP with a one-year history of abdominal pain. There was no significant medical or family history. Physical examination was unremarkable. Laboratory findings showed raised white cell count, elevated erythrocyte sediment rate, and renal dysfunction. He was referred to a nephrologist who noted additional symptoms of diarrhoea and occasional per-rectal bleeding with no significant improvement in symptoms or renal function after complete cessation of non-steroidal anti-inflammatory drugs. Renal biopsy confirmed acute interstitial nephritis and granuloma, therefore he was referred to a gastroenterologist to rule out CD or sarcoid. Colonoscopy showed pancolitis with rectal sparing and segmental biopsies revealed chronic colitis with granulomas confirming CD. Fecal calprotectin was raised. Further investigations ruled out autoimmune disease, tuberculosis and sarcoidosis as causes for renal impairment. Treatment involved steroid tapering followed by intravenous infliximab induction and maintenance therapy with subcutaneous injections fortnightly. Renal function and GIT symptoms improved with infliximab monotherapy, though dose escalation to weekly infliximab injections was required at seven months due to loss of response from subcutaneous infliximab. At one year, colonoscopy showed endoscopic remission, with ongoing improvement in renal function (creatinine 194 to 111 umol/L) and resolution of pyuria. In conclusion, we present a rare case of CD-associated interstitial nephritis, showing a positive clinical response to infliximab monotherapy.

References

1. Lamb CA, Kennedy NA, Raine T, et al. British Society of Gastroenterology consensus guidelines on the management of inflammatory bowel disease in adults. Gut. 2019;68:s1-s106.
2. Eade MN, Cooke WT, Williams JA. Liver disease in Crohn's disease. Scand J Gastroenterol. 1971;6:199-204.
3. Whitehead R. Pathology of Crohn's disease. In: Kirsner JB, Shorter RG, eds. Inflammatory bowel disease. 2nd ed. Philadelphia: Lean and Febiger; 1980:296-310.

Disclosure

Nil

Clinical Case Summary

We present a case of a 37-year-old woman with ulcerative pancolitis (diagnosis in 2004), under therapy with salicylates until 2016. At that time, the patient had a flare up with need of corticosteroid therapy and started infliximab and azhatioprine. In 2018, she was in deep remission, so azathioprine was stopped. In may 2022, the patient developed intermittent fever and palpable purpura on lower limbs. It was evaluated by Dermatology who, after extensive negative ethiological study and partial response to corticosteroids, decided to perform a skin biopsy - leukocytoclastic vasculitis. Subsequently, she started intermittent episodes of hematuria, fatigue and arthralgias. Laboratory tests showed an increase in creatinine twice above the patient's baseline value, large amounts of red blood cells in the urinary sediment and moderate (subnephrotic) proteinuria. From the additional study, only an immunoglobulin A (IgA) elevation of 538 (LSN < 400) is reported. At this time, due to suspicion of IgA nephropathy, a renal biopsy was performed, which confirmed the presence of IgA deposits in the glomerular mesangium. After ruling out infectious, autoimmune and neoplastic causes, Henoch-Schönlein purpura (non-thrombocytopenic purpura and IgA nephropathy) secondary to anti-TNFα was assumed. In an IBD meeting, it was decided to stop anti-TNF and start azathioprine. Due to gastrointestinal intolerance and herpetic infection, vedolizumab was proposed, with a favorable response so far.
The approach of the adverse effects of IBD therapy can be challenging and not very consensual, requiring a multidisciplinary discussion. Henoch-Schönlein purpura is a rare adverse effect of anti-TNFα, particularly in adulthood, which in the present case appeared several years after the start of therapy. We intend to emphasize the need for a high degree of suspicion in this condition, as an early diagnosis has an impact on discontinuation of therapy and can radically change the prognosis.