Several rare diseases can mimic Crohn's disease (CD) due to overlapping clinical presentations and pathophysiological features:
Rare diseases mimicking Crohn's disease
- Sarcoidosis: This chronic inflammatory disease shares several clinical and immunological features with CD, including the occurrence of granulomas. A common susceptibility locus on chromosome 10p12.2 has been identified for both diseases
- Orofacial granulomatosis: This condition encompasses clinical entities such as Melkersson-Rosenthal syndrome and cheilitis granulomatosa. It can present with rare manifestations in CD, such as optic neuropathy and cheilitis granulomatosa
- Metastatic Crohn's disease: This is a rare cutaneous manifestation of CD that can be overlooked due to its rarity and non-specific clinical presentation
- Anorexia nervosa: Symptoms of CD and anorexia nervosa can mimic each other, leading to a delayed diagnosis and requiring complex, multidisciplinary management
- Multiple sclerosis: MS can be associated with CD, and both diseases can present with overlapping symptoms
- Immune dysregulation / inflammatory bowel disease / arthritis / recurrent infections / lymphopenia syndrome: This rare syndrome has a prevalence of 0.0001 per 100,000 population worldwide and can present with symptoms similar to CD
Clinical presentation of Crohn's disease
- CD is characterized by a transmural granulomatous inflammation most commonly affecting the ileum, colon, or both
- Hallmark symptoms include abdominal pain, diarrhea, and fatigue; weight loss, fever, growth failure, anemia, recurrent fistulas, or extraintestinal manifestations can also be presenting features
- Extraintestinal manifestations: CD can present with seronegative arthritis, dermatological pathology, ocular pathology, hepatobiliary disease, thromboembolic complications, bone disease, cholelithiasis, nephrolithiasis, and immune-mediated diseases
In conclusion, several rare diseases can mimic CD due to overlapping clinical presentations and pathophysiological features. It is important to consider these diseases in the differential diagnosis of CD to ensure accurate diagnosis and appropriate management.