Overlap syndromes, which include systemic scleroderma (SSc), rheumatoid arthritis (RA) and systemic lupus erythematosus (SLE), are rare. When the symptoms of the three autoimmune diseases occur simultaneously, this overlap poses a particular clinical challenge. Early diagnosis and a multidisciplinary treatment approach are required to improve outcomes for affected patients.
Overlap syndromes are a rare but well-known disorder that occur mainly in autoimmune diseases. When SSc, RA and SLE coexist in a patient, this can present clinically unusually with overlapping symptoms that make it difficult to differentiate the inflammations and individual diseases. This can complicate diagnosis and treatment planning, as approaches to treating one disease may impact the others. In addition, the presence of multiple autoimmune diseases often correlates with a more severe disease course and a higher risk of complications.
Doctors from India presented the case of a woman with an overlap syndrome that includes systemic scleroderma, RA and SLE [1]. The 54-year-old woman from southern India presented with complaints of progressive skin tightening, multiple joint pains, shortness of breath and abdominal pain for the past six months to the team of Dr. Sava Nanda Gopal Saveetha at the Medical College and Hospital in Chennai, India. She also reported episodic facial rashes and sensitivity to light. On arrival, her vital signs were normal. General examination was normal.
Anti-CCP antibody level was significantly increased
Clinical examination revealed thickened skin on the hands and forearms and swelling and tenderness of the small ankles. In addition, bibasilar rales were detected on lung auscultation and the patient reported increasing shortness of breath on exertion.
Preliminary laboratory tests showed hemoglobin (Hb) levels below the normal range for women of 8.5 g/dL and an elevated RA factor of 100.17 IU/mL. Antinuclear antibody (ANA) tests showed positive results for Mi-2, Ro-52, AMA-M2 and histone-3. The anti-dsDNA test was positive and the anti-CCP antibody level was significantly elevated at 601.1 RE/ml, indicating a high probability of RA. The direct Coombs test also gave a positive result.
A high-resolution CT scan of the chest showed signs of interstitial lung disease with tractional bronchiectasis, multifocal areas of ground-glass opacity and evolving consolidative changes in the bilateral lung fields (Fig. 1).
Constellation of features indicated SSc, RA and SLE
Based on the clinical findings and serologic markers, the physicians diagnosed an overlap syndrome with SSc, RA and SLE. Low-dose prednisolone, folic acid, methotrexate and mycophenolate mofetil (MMF) were administered to treat the interstitial lung disease and skin involvement. Hydroxychloroquine was prescribed to control the lupus-specific symptoms. An ACE inhibitor was also added to treat Raynaud’s phenomenon and prevent possible renal involvement. To improve the hemoglobin level, the patient received a blood transfusion. She was discharged home with the prescribed medication after her symptoms improved following the start of treatment.
The co-occurrence of SSc, RA and SLE can amplify the inflammatory response and lead to a more severe disease course and pose a significant diagnostic and therapeutic challenge, the Indian doctors write. The diagnostic complexity arises from the variable serologic profiles and overlapping clinical features that require a multidisciplinary approach for effective treatment. The treatment regimen often includes a combination of immunosuppressants tailored to the specific manifestations of each disease, such as methotrexate, MMF and hydroxychloroquine in this case. Due to the increased disease burden associated with overlap syndromes, the prognosis is usually worse, which emphasizes the importance of rapid and intensive treatment.
Literature:
- Gopal S, Vakati D, David K, et al: Cureus 2024; 16(9): e68405; doi: 10.7759/cureus.68405.
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