Introduction Autoimmune disease (AD) may well start off as a single diagnosis and across the years develop into multiple autoimmune syndromes (MAS) seen in the same patient, as new clinical symptoms and laboratory finding show up in the course of disease.
Multiple environmental exposures to infectious disease, tobacco smoking, and pharmacological interventions might only be important in defining the course of AD based on genetic susceptibility and phenotypic manifestations.
This is the clinical case of a mature adult male patient, now forty-four years old with a family history of systemic lupus erythematosus (SLE) in mother and autoimmune thyroid disease (AITD) in a sibling. In 2002 he was initially diagnosed with rheumatoid arthritis (RA) and has by now more than a decade later, already progressed to multiple manifestations of SLE and Sjögren's Syndrome (SS).
Case description We will discuss a forty-four year old male, patient who starts manifesting inflammatory polyarthralgias in knees and ankles associated with morning stiffness in the year 2000. After multiple consultations he was diagnosed in 2002 with RA. At his point he was found to have non erosive arthritis, high titles of rheumatoid factor and positive anti-CCP antibodies.
Of interest, he had a past medical history of tropical disease while on military service of malaria, typhoid fever, and cutaneous leishmaniasis when he was in his early twenties. Since teenage years and until 2008, he was exposed to tobacco smoking and moderate weekly alcohol consumption. Familial history of AD has been identified in his mother who had SLE and on a sister with AITD.
After being diagnosed with RA he was started on steroids and non-biologic DMARDs with partial and intermittent remission of disease. 5 years later after diagnosis he developed dry symptoms consistent with dry mouth and dry eyes and by 2008 SS was diagnosed after a positive Schirmer test, a minor salivary gland biopsy disclosing severe chronic sialadenitis and positive anti-Ro and anti-La antibodies.
That same year polyarthralgia was now in hands, wrists, elbows and shoulders, associated with myalgia, hair loss, and Raynaud's phenomenon, which were all previously absent.
In 2009 he was started in anti-TNF biological treatment, which he received for 9 months. After failing remission of disease new laboratory workup was gathered. He tested positive for antinuclear antibody (ANA), showed new lymphopenia, and now also had positive anti-Sm, anti-RNP antibodies. SLE/Rhupus was now diagnosed. Therapy with anti-CD20 was initiated and a year later he tested positive for IgG anticardiolipine and showed CH-50 complement consumption. ENA panel at this point tested all negative, while ANA where still positive. Until now this patient has been a therapeutical challenge as articular manifestations persist along with undesired drug side effects of continued treatment.
Disclosure of Interest None declared
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