by Carlo Selmi
In the majority of cases, primitive, i.e. not indicative of a systemic disease, while in a minority of patients the signal (often the first) of an inflammatory pathology of the connective tissue
I am a 25 year old girl and for almost ten years I have suffered from Raynaud’s phenomenon on my hands and feet during the winter months. My doctor prescribed me some tests which showed that I had positive anti-nuclear antibodies and raised the hypothesis of undifferentiated connective tissue disease. What do you think? What are the steps necessary to reach the diagnosis?
Carlo Selmi, head of Rheumatology and Clinical Immunology, Humanitas Institute, Milan responds (GO TO THE FORUM)
Raynaud’s phenomenon is a very common symptom: it consists of an altered reaction of the peripheral microcirculation to stimuli such as low temperatures, with a change in the color of the extremities (especially fingers and toes, but also nose and ears) which first take on a white, then become cyanotic (bluish) and then red, within 10-20 minutes. Raynaud’s phenomenon can be very annoying and prevent some activities, such as winter sports. In the majority of cases, especially when it occurs at a young age and with a history of other people in the family suffering from it, the phenomenon is primitive, i.e. not indicative of a systemic disease, while in a minority of patients the signal, often the first, of an inflammatory connective tissue disease.
Systemic diseases
Connective tissue diseases are systemic diseases that include very well-known and fortunately rare conditions, including systemic lupus erythematosus and systemic sclerosis (also called scleroderma). Undifferentiated connectivitis is a less defined condition which is diagnosed when some suggestive elements for connectivitis are present, but these are not sufficient to make a more precise diagnosis. In almost all cases, connective tissue infections are accompanied by positive anti-nuclear antibodies (ANA), which however is present in 20-40% of women in the general population, especially over the age of 50: it is therefore a test with poor diagnostic power. .
Tests useful for diagnosis
If you suspect secondary Raynaud’s phenomenon, the first step is to do a capillaroscopy, which is a non-invasive test that investigates the shape of the capillaries in the cuticles of the fingers and which allows you to observe very early signs of systemic sclerosis. At the same time, it will be essential to investigate, in the anamnesis and during the examination, the presence of other symptoms compatible with connective tissue disease, such as dryness of the mouth and eyes or the presence of skin reactivity to sunlight. Another potentially useful laboratory test is the measurement of anti-Ena antibodies (extractable nuclear antigens).
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February 5, 2024 (modified February 5, 2024 | 08:15)
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