Hidden Diagnosis: Colitis with family Mediterranean fever - Crohn's disease or ulcerative colitis?

Hidden Diagnosis: Colitis with family Mediterranean fever - Crohn's disease or ulcerative colitis?

The research presented here describes an interesting case of a young woman who suffered from abdominal pain, fever and joint pain. At first everything seemed to indicate that it suffers from the chronic bowel disease Crohn's disease, but the usual treatments failed. Only after the doctors changed their diagnosis and carried out genetic tests did they discover that their symptoms were due to a rarer disease, the family Mediterranean fever (FMF). A simple therapy with the drug colchicin then led to a complete improvement.

This discovery could mean in the future that doctors could think as a possible option in the event of unusual and changing clinical pictures in the intestine via a genetic examination and therapy with colchicin, especially if conventional treatment approaches do not bring any improvements.

Basics and terms

Crohn's disease: A chronic inflammation of the intestine that runs into batches and often goes hand in hand with abdominal pain, diarrhea and weight loss. The diagnosis is typically carried out by colonoscopy (colonoscopy).

ulcerative colitis: A also chronic bowel disease that differs from Crohn's disease by its continuous development and the different infestation patterns in the intestine. Inflammation usually occurs continuously in the colon.

Family Mediterranean fever (FMF): A genetic disease that often occurs in Mediterranean countries. It is characterized by recurring episodes of fever and inflammation, mostly in belly, joints or chest.

colchicin: A medication that is often used to treat gout and FMF. It works by reducing the inflammatory reaction in the body.

abbreviations

• FMF: Family Mediterranean fever
• colonoscopy: examination of the colon with a camera

Changes in colon inflammation as an indicator of family Mediterranean fever-associated enterocolitis

In a recently carried out study, a 24-year-old patient was examined with symptoms who initially indicated Crohn's disease. The treatment approaches carried out, including 5-aminosalicylic acid, Azathioprine and Infliximab, remained without clinical success. In the case of later colonoscopy, there was a picture that was more of an ulcerative colitis colitis. These observations led to a genetic examination that revealed variants of the MEFV gene.

genetic discoveries and treatment success

It was found that the patient has the MEFV gene variants E148Q and L110P in Exon 2. These variations are known in scientific circles as associated with family Mediterranean fever (FMF). Treatment with colchicin led to a complete clinical remission, which supports the hypothesis that the observed changes in colon inflammation could indicate FMF-associated enterocolitis.

meaning of the clinical observations

• Long-term changes in colon lesions can serve as diagnostic information for FMF-associated enterocolitis.
• Different morphological characteristics in the course of the disease, such as changing from a Crohn-like to a ulcerative-like appearance, are of crucial importance.
• genetic tests play an important role in the confirmation and adaptation of the diagnosis.
• Colchicin has proven to be effective treatment in this case.

Table: Main features and diagnostic developments

These findings show that genetic factors are crucial for the correct diagnosis and treatment and that morphological changes can provide decisive information for the underlying pathology. Further research will be necessary to open up the full diagnostic potential of these observations.

For complete details about the study, please visit the external link: https://pubmed.nlm.nih.gov/39295638 .