Pulmonary veno-occlusive disease as a primary cause of pulmonary hypertension in a patient with mixed connective tissue disease.
Mixed connective tissue disease (MCTD) is a systemic disease seen in a group of patients with overlapping clinical features of lupus, scleroderma, polymyositis, and rheumatoid arthritis. A defining feature of MCTD is the presence of antibodies against the U1-ribonucleoprotein (U1-RNP) complex. Pulmonary hypertension is the major cause of death in MCTD. We report an autopsy case of MCTD with pulmonary hypertension. The U1-RNP antibody of this patient was 171.9 U (normal < 25.0 U). The immediate cause of death was attributed to acute pulmonary embolism at left lower lobe. A severe vasculopathy characterized by fibrotic occlusion of small veins and venules, associated with prominent capillary congestion, was consistent with pulmonary veno-occlusive disease (PVOD). This is the first case reported in which PVOD is the primary cause of pulmonary hypertension in MCTD.
Zhang
Lizhi
L
Department of Pathology, Mayo Clinic College of Medicine, 200 First Street SW, Rochester, MN 55905, USA.
Visscher
Daniel
D
Rihal
Charanjit
C
Aubry
Marie-Christine
MC
D000906:Antibodies / Q000097:blood; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D006976:Hypertension, Pulmonary / Q000209:etiology* / Q000276:immunology / Q000473:pathology; D008875:Middle Aged; D008947:Mixed Connective Tissue Disease / Q000150:complications* / Q000276:immunology / Q000473:pathology; D011667:Pulmonary Veins / Q000473:pathology* / Q000503:physiopathology; D011668:Pulmonary Veno-Occlusive Disease / Q000150:complications* / Q000276:immunology / Q000473:pathology; D017412:Ribonucleoprotein, U1 Small Nuclear / Q000276:immunology
D000906:Antibodies; D017412:Ribonucleoprotein, U1 Small Nuclear