A 63-year-old Chinese female presented to rheumatology clinic with positive antinuclear antibody 1:80 homogeneous pattern, severe fatigue, hair loss, joint pains for approximately last 3 years, unintentional weight loss of 24 pounds (20% of her ideal body weight) in last 8 months, and lymphadenopathy. Her joint pains are localized to bilateral hands, elbows, shoulders, hips, and knees. Of all the joints her hands hurt her the most. Joint pains are associated with intermittent swelling and early morning stiffness lasting at least for 30 minutes. Her symptoms were worse during winter and cold weather. She is unable to do her activities of daily living like holding a coffee mug, eating with a spoon, opening bottles, and so on.
She was evaluated for underlying malignancy in the setting of generalized lymphadenopathy and significant unintentional weight loss. Her past medical history was significant for hypertension, thyroid nodule status post ultrasound-guided fine needle aspiration cytology consistent with benign follicular colloidal nodule and bilateral carpal tunnel syndrome on electromyography status post nerve release.
Her medications include benazepril-hydrochlorothiazide 20 mg-12.5 mg, diclofenac potassium 50 mg PRN, vitamin D3 2000 international units. Family history was significant for cancer in paternal grandmother and hypertension and hypercholesteremia in mother. She is an ex-smoker with 30 pack-year smoking history and quit smoking 2 years ago.
Physical examination was positive for thin, cachectic female with palpable posterior cervical, supraclavicular, and bilateral axillary lymphadenopathy. Tenderness was felt in multiple proximal inter phalangeal joints of bilateral hands with mild synovitis. Diffuse thinning of hair on scalp was noted.
Further review of records showed intermittent eosinophilia on the complete blood count. Subsequent work-up showed elevated anti-double stranded DNA 1:40 by immunofluorescence assay (normal <1:10), elevated IgG4 level of 452 mg/dL (normal = 1-123 mg/dL), elevated serum protein 9.7 g/dL, serum globulin 7.1 g/dL, serum protein electrophoresis showing polyclonal increase in the gamma region with no M-spike, and erythrocyte sedimentation rate of 67 mm/h.
Other testing was negative for smith antibody, ribonuclear protein antibody, anti-SSA, anti-SSB, rheumatoid factor, anti-cyclic citrullinated peptide, anti-phospholipid antibody panel, anti-neutrophilic cytoplasmic antibody with myeloperoxidase, and proteinase 3 antibody. C3 and C4 levels within normal limits. Urinalysis and renal function were normal. Infection workup was negative for hepatitis, HIV, tuberculosis (quantiferon gold), syphilis (rapid plasma reagin), and coccidiomycosis. Peripheral blood flow cytometry showed no flow cytometric evidence of monoclonality, acute leukemia, or lymphoproliferative disorder.
A computed tomography scan of the neck, chest, abdomen, and pelvis with and without contrast showed prominent cervical (Figure 1), axillary lymphadenopathy along with multiple shotty lymph nodes in the region of the mediastinum and left periaortic region. Other significant finding was bilateral pleural effusions.
Age-specific cancer screening was negative for malignancy including pap smear, colonoscopy, and bilateral screening mammogram.
Ultrasound-guided fine needle aspiration cytology of bilateral axillary lymph nodes was negative for malignancy with abundant plasma cells and positive IgG4 staining (Figures 2 and 3).
She was diagnosed with overlapping syndrome of IgG4 related disease and SLE. She was started on 10 mg prednisone and 200 mg plaquenil daily, which significantly improved her symptoms. Her prednisone was tapered slowly and completely discontinued in 5 months. She is currently on maintenance plaquenil 200 mg daily back to her usual state. She gained weight, and her other symptoms of fatigue, hair loss, joint pains, and lymphadenopathy completely resolved. Her repeat anti-double stranded DNA, IgG4, and eosinophil levels were within normal limits (Table 1).