Undiagnosed Systemic Involvement in Connective Tissue Disorders - Internal Medicine

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Regarding systemic invasion of connective tissue and (invasion, involvement), not explicitly stated?


Recently, I frequently experienced mouth ulcers and visited the rheumatology department.
Blood tests showed normal immune indices, but the doctor prescribed colchicine and iron supplements.
Later, I checked my health insurance records, and the doctor diagnosed me with "related systemic connective tissue involvement, unspecified." I would like to ask if this is a definitive diagnosis of any disease.
Additionally, I would like to know why the doctor prescribed colchicine despite normal blood test results.

shuan, 30~39 year old female. Ask Date: 2023/03/21

Dr. Zeng Guosen reply Internal Medicine


Colchicine has anti-inflammatory properties and is commonly used for the prevention and acute treatment of gout.
Clinically, it can be used for the preventive treatment of chronic idiopathic oral ulcers.
The physician's diagnosis refers to the meaning of idiopathic diseases.

Reply Date: 2023/03/21

More Info


Understanding undiagnosed systemic involvement in connective tissue disorders can be quite complex, especially when clinical symptoms do not align neatly with laboratory findings. In your case, the presence of recurrent mouth ulcers and the diagnosis of "systemic involvement related to connective tissue disorders" suggest that your physician is considering a broader spectrum of autoimmune or connective tissue diseases, even in the absence of definitive laboratory markers.

Connective tissue disorders encompass a wide range of diseases, including systemic lupus erythematosus (SLE), rheumatoid arthritis (RA), scleroderma, and others. These conditions can manifest with diverse symptoms, including mucosal lesions like mouth ulcers, joint pain, skin changes, and systemic symptoms such as fatigue and fever. The fact that your immune indices are normal does not rule out these disorders, as many autoimmune diseases can present with normal laboratory results, especially in the early stages or during periods of remission.

The prescription of colchicine (秋水仙) is particularly interesting. Colchicine is primarily used to treat gout and familial Mediterranean fever, but it also has anti-inflammatory properties that can be beneficial in various inflammatory conditions, including some forms of vasculitis and pericarditis. In the context of connective tissue disorders, colchicine may be prescribed to manage symptoms or prevent flares, particularly if there is a suspicion of an underlying inflammatory process that is not fully characterized yet.

Iron supplements (鐵劑) may have been prescribed for several reasons. If you have experienced recurrent ulcers, it is possible that there is an underlying issue with iron absorption or a mild chronic blood loss that could lead to iron deficiency anemia. Iron is crucial for many bodily functions, including the production of hemoglobin in red blood cells, and its deficiency can exacerbate fatigue and other systemic symptoms.

The phrase "未明示" (not explicitly stated) in your diagnosis indicates that while your doctor suspects a connective tissue disorder, they may not have enough evidence to provide a definitive diagnosis at this time. This is not uncommon in the field of rheumatology, where conditions can be elusive and require careful monitoring and follow-up. Your physician may be taking a cautious approach, treating symptoms while continuing to observe your condition over time.

In summary, while your blood tests are normal, the symptoms you are experiencing, such as mouth ulcers, warrant further investigation. The use of colchicine and iron supplements suggests that your physician is addressing potential inflammatory processes and nutritional deficiencies, respectively. It is essential to maintain open communication with your healthcare provider, as they can provide further insights and adjust your treatment plan based on your evolving clinical picture. Regular follow-ups and possibly additional testing may be necessary to clarify your diagnosis and ensure appropriate management of your symptoms.

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