A 20 y.o male, his height was about 190 cm, positive of wrist and thumb sign, kyphosis, and arachnoidactili. He also had chronic liver disease. ANA test and rheumathoid factor was negative, but anti-dsDNA was positive. What is autoimmune disorder which is possible in this patient?
Marfanoid habitus can be associated with conditions such as livedo reticularis. In this case, one may find anti-cardiolipin. In your patient, it looks like that you have no skin lesions. So, you may not find any specific autoimmune disorders.
Is it possible if we found positive of dsDNA or other autoimmune tests in patient with Marfan syndrome?
For me, this may very well fit with your patient.
We know that anti-dsDNA can be found in variety of autoimmune diseases such SLE, but also in autoimmune hepatitis. Since your patient has a chronic liver disease. Can this just be an autoimmunity hepatitis? If so, we can explain why he has anti-dsDNA positive.
I would do a liver biopsy to confirm the diagnosis of autoimmune hepatitis, which will explain the positive test to anti-dsDNA.
Autoimmune hepatitis is a diagnostic possibility, as noted. I am assuming the patient was tested for hep C infection. Does the patient have other autoantibodies positive, e.g., anti-mitochondrial, anti-smooth muscle, and MKL antibodies?
We haven't checked those autoantibodies yet. Were they needed for autoimmune hepatitis diagnostic?
Yes, autoimmune hepatitis is often present if not with a positive ANA, often with positive other autoantibodies, as the ones mentioned above. A liver biopsy alone may not be enough to diagnose autoimmune hepatitis. Usually, an ANA is positive. In the absence of a positive ANA, then I would order additional autoantibodies. Again, we are assuming the diagnosis is autoimmune hepatitis. It may well be something else like a drug side effect, hemochromatosis, viral infection, etc. He needs a good evaluation to arrive at the correct diagnosis. I wonder if the Marfan syndrome and the liver disease are actually related or not,
Antibodies in autoimmune hepatitis are many and their presence will depend on the subtype of autoimmune hepatitis (there are four types). However, the diagnosis will be biopsy. When done by an experienced professional, the liver biopsy can provide the diagnosis by excluding diagnosis such as hemochromatosis, drug-induced toxic hepatitis etc.
Talking of viral infection such as chronic Hepatitis C, autoimmune phenomena observed in this condition include rheumatoid arthritis, thyroid disease, cryoglobulinaemia, immune thrombocytopenic purpura, systemic lupus erythematosus and sjogren syndrome. I am not sure if one of these conditions are present in this patient.
We only have checked ANA, anti ds-DNA and rheumatoid factor for autoimmune panel in this patient because there is only limited test for autoimmune panel in our hospital Although these tests are only support the diagnosis, clinical condition still the main point of autoimmune diagnostic, I think.
Thank you Dr. Diese and Dr. Gonzalez for the advices.
Please don't forget to check for hep C infection, which often causes the Rheumatoid Factor or RA factor to be positive,
- Badges
- Science topic
- Similar topics
- Geoscience
- Asia
- India