A 20 y.o. woman with a hx of Reynaud's, asthma and IgA deficiency presents with fever and shortness of breath
She developed respiratory failure in 24 hours with the xray shown below in spite of broad spectrum antibiotics. All of her infectious disease work up was negative. vv ECMO was started.
What could be wrong?
Our patient developed respiratory failure from Mixed Connective Tissue Disease( MCTD). Interstitial lung disease (ILD) is common in systemic autoimmune diseases. It occurs in MCTD, rheumatoid arthritis, scleroderma and polymyositis. Antisynthetase syndrome in which autoantibodies to transfer RNA synthetases form is also associated with ILD but is much more rare.
reynaud’s in our patient
Early diagnosis of ILD in autoimmune diseases can be made by high resolution CT(HRCT) with inspiratory and expiratory views which demonstrate air trapping. But since this is rarely done prior to diagnosis since the disease is often unrecognized until there is a flare (as in our patient). 15% of patients with interstitial lung disease are diagnosed with autoimmune diseases. Interstitial lung disease in autoimmune disease is associated with pulmonary fibrosis and pulmonary hyptertension.
DIAGNOSIS OF AUTOIMMUNE DISEASES-clinical findings and serum markers
Anti-synthetase syndrome- Raynauds, myositis ILD, and mechanics hands.
anti-tRNA synthetase autoantibody
Lupus- is associated with pericarditis, circulating lupus anticoagulants,and valvular disease
Double stranded DNA antibodies are present
Rheumatoid arthritis- is associated with rheumatoid nodules in the lung, pericarditis and myocarditis
Anti-cyclic cirulinated peptide Ab are positive
Scleroderma- ILD, pulmonary hypertension
Anti-Scl-70 antibodies are present against DNA topoisomerase 1
Mixed connective tissue disease- ILD, Raynauds, arthritis
Anti-U1-ribonucleoprotein (RNP) antibodies
Polyarteritis nodosa- affects the skin and peripheral nervous system, kidneys and GI tract
Often Hep B surface antigen is positive
Ankylosing spodylitis- back pain,enthesitis of the Achilles and plantar fascia,anterior uveitis
HLA-B27 is often positive
mechanic’s hands in anti-synthetase syndrome
Many other collagen vascular diseases are diagnosed clinically as in temporal arteritis. ANCA positive diseases are associated with “p” and “c” ANCA. Often autoimmune diseases overlap without clear serologic markers.
Our patient had no response to antibiotics. After being put on high flow O2 she continued to decline and was intubated and put on ECMO. Her laboratory studies showed RNP of 6:1, double stranded DNA was negative, C3 was low and ANA was 1:5120. She was started on high dose steroids and her lung infiltrates resolved. Her MCTD is being managed with rituximab, hydroxychloroquine and prednisone. She is doing well.
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