Case 641 -- Antibodies to dsDNA

Contributed by Nidhi Aggarwal, MD and Bruce Rabin, MD, PhD


CASE 1

22 y/o Chinese male evaluated in early November with three weeks of gradually worsening edema and lower extremity pain (right >>> left). He reported dry mouth, oral ulcers, non-productive cough, and some stiffness in his hands throughout the day and fatigue. He denied rash, fevers, chills, malaise, weight loss, poor appetite, dry eyes, chest pain, and shortness of breath, nausea/vomiting/diarrhea or changes in urination, raynauds or photosensitivity. He denied any history of tuberculosis or weight loss.

On examination he was afebrile, heart rate 93/minute, Blood pressure 113/74mm Hg, O2 saturation: 100% room air. Buccal mucosa and hard palate ulcers and periorbital edema were noted. There was tenderness and 3+ pitting edema bilaterally (right>>> left) in the distal lower extremities and hands. Generalized lymphadenopathy was also noted.

The rest of the examination of abdomen, chest and neurology was unremarkable, no synovitis, glossitis or salivary gland swelling was noted.

ON INVESTIGATIONS:

Anti -Smith, Anti RNP, SSA, SSB, ANCA, Anticardiolipin IgG and IgM, Beta GPI IgG, IgM, IgA, Anti- M2 mitochondrial antibody, ASLO, Beta2 microglobulin, Liver/ Kidney microsomal antibody, Soluble liver antigen IgG were all negative

CT scan: Generalized lymphadenopathy, Doppler of lower extremities: negative.
Renal biopsy: Immuncomplex glomerulnephritis.
Liver biopsy: minimal chronic portal tract inflammatory infiltrate, bile ductular proliferation, and regenerative hepatocytes.
Axillary lymph node biopsy: favor a reactive process.
Bone marrow biopsy: negative for lymphoma

CASE 2:

45 year old female was diagnosed with psoriasis about 10 years ago. Recently she developed arthralgia but no swelling. She was treated initially with topical steroids, followed by methotrexate which was stopped because of elevated liver function tests. In April 2009 she was started on infliximab with a good response in her skin and joint symptoms. The day after her last infusion, she developed significant pain and swelling in her wrists, ankles, knees, hip and shoulders with 15 minutes of morning stiffness. This was treated with steroid but symptoms recurred on tapering of steroids. She also noted swelling (nodules) over both elbows.

Review of systems: She noted fatigue, non-restorative sleep, and light headedness intermittently. She denied hair loss, oral ulcers, red eyes, skin rashes, chest pain, blood in her urine or stools, Reynaud's, joint swelling, miscarriages or blood clots. She had a past medical history of Hypothyroidism and a family history positive for rheumatoid arthritis in the mother and lymphoma and psoriasis in father.

On examination: Blood pressure: 102/62, Pulse: 72/ min. The oral mucosa was moist, no ulcers were noted, no thyromegaly or lymphadenopathy noted, normal respiratory, abdominal, cardiovascular and neurologic examination.
Musculoskeletal: There was synovitis with tenderness in several proximal inter phalangeal, metacarpophalangeal and left wrist joints; joint line tenderness was also noted in left knee, over the Achilles tendons and dorsum of the ankles bilaterally. Range of motion was normal in both upper and lower extremities.
Skin: There were psoriatic patches over her elbows, trunk and legs.

On follow up visit there was improvement in the synovitis. A repeat anti-dsDNA level was performed in an outside laboratory and was reported to be 22 IU/ml (normal ranges: <4 negative, 5-9 intermediate, >10 positive). Unfortunately it was not performed by immunoflourescence method but probably by ELISA.

FINAL DIAGNOSIS


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