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Published on: September 20, 2018
[Chronic granulomatous disease as a rare differential diagnosis of inflammatory bowel disease]
Jan-Christopher Metzger1, Elena Kurz1, Caroline von Spee-Mayer2
1I. Medizinische Klinik und Poliklinik, Gastroenterologie und Hepatologie, Universitätsmedizin Mainz.
Background:
Chronic granulomatous disease is a rare disease with a prevalence of approximately 150 cases in Germany. An intestinal manifestation that mimics chronic inflammatory bowel disease (IBD) has only been described in a few cases. As a result of a deficient superoxide-synthesis, frequent and recurrent infections caused by rare pathogens have been described. We present the case of a 28-year old patient who has been diagnosed with IBD at the age of 2 years. He showed recurrent liver abscesses and the picture of a chronic IBD.
Methods:
Clinical and laboratory data was obtained and endoscopic, radiologic and histologic examinations, tests for granulocytic functions as well as a genetic analysis were performed. Literature of the PubMed database and recent literature were analyzed.
Case:
Under immunosuppressive therapy, with TNF -blocker Adalimumab followed by therapy with integrin-receptor antagonist Vedolizumab, the patient developed recurrent abscesses of the liver. Those were the result of infection with a sensitive Staphylococcus aureus strain. Colonoscopy showed stenosis of the rectum and some inflammatory activity. Intestinal symptoms were unresponsive to all therapies for IBD. Furthermore, there was a presence of active acne and recurrent liver abscesses due to bacteria not typical for intestinal infections. Consequently, we considered a granulocyte dysfunction as the underlying cause. Diagnosis of a chronic granulomatous disease was confirmed by flow cytometry and oxidative burst test. Genetic analysis showed a homozygote mutation of the p47phox (NCF1) gene located on chromosome 7, which represents the most common autosomal recessive form with 20 - 25 % of cases.
Results:
In light of recent literature, this case report shows that chronic granulomatous disease should be considered as a differential diagnosis to therapy refractory IBD. This is the case, especially in young patients, when recurrent bacterial lesions caused by intestine-atypical pathogens appear.
Insights
Chronic granulomatous disease (CGD) can mimic inflammatory bowel disease (IBD). Early diagnosis of CGD is crucial, especially in young patients with recurrent infections and IBD-like symptoms.
Area of Science:
- Immunology
- Gastroenterology
- Genetics
Background:
- Chronic granulomatous disease (CGD) is a rare primary immunodeficiency.
- Intestinal manifestations of CGD are uncommon and can mimic inflammatory bowel disease (IBD).
- Superoxide synthesis deficiency in CGD leads to recurrent infections by atypical pathogens.
Observation:
- A 28-year-old patient with a 2-year history of IBD presented with recurrent liver abscesses and IBD-like symptoms.
- The patient showed refractoriness to standard IBD therapies including TNF-blocker and integrin-receptor antagonist.
- Recurrent liver abscesses caused by Staphylococcus aureus and other atypical bacteria, along with acne, suggested a granulocyte dysfunction.
Findings:
- Diagnosis of CGD was confirmed by flow cytometry and oxidative burst testing.
- Genetic analysis revealed a homozygous mutation in the NCF1 gene (p47phox), the most common cause of autosomal recessive CGD.
- The patient's condition was refractory to IBD treatments, highlighting the importance of considering CGD in differential diagnosis.
Implications:
- CGD should be considered in the differential diagnosis of therapy-refractory IBD, particularly in young patients.
- Recurrent bacterial infections with unusual pathogens in patients with IBD-like symptoms warrant investigation for CGD.
- This case underscores the need for a comprehensive diagnostic approach in complex gastrointestinal and infectious presentations.
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