Title:Mixed Connective Tissue Disease: The Two Cases Representing the Range
of this Illness
Volume: 20
Issue: 5
Author(s): Ashaq Hussain Parrey*, Manzoor Koka and Mohd Ismail
Affiliation:
- Internal Medicine Government Medical College Srinagar, Srinagar, India
Keywords:
Mixed connective tissue disease, pulmonary arterial hypertension, interstitial lung disease, systemic lupus erythematosus (SLE), systemic sclerosis (SSc), central nervous system.
Abstract:
Introduction: Mixed connective tissue disease (MCTD) is defined as a systemic rheumatic
disease characterized by the presence of high titer anti-U1 ribonucleoprotein (U1 RNP) antibodies
in combination with clinical features commonly seen in systemic lupus erythematosus
(SLE), systemic sclerosis (SSc), rheumatoid arthritis (RA) and polymyositis (PM).
Case Presentation: The annual incidence of MCTD is 1.9 per 100,000 adults. Any organ system
can be involved in MCTD however four clinical features that suggest the presence of MCTD
rather than another systemic rheumatic disease are Raynaud phenomenon with swollen hands or
puffy fingers, absence of severe kidney disease and central nervous system (CNS) disease at first
presentation generally, insidious onset of pulmonary hypertension and presence of autoantibodies
anti-U1 ribonucleoprotein (U1 RNP), especially antibodies to the 68 kD protein. MCTD, although
initially thought to be a disease with a benign course is not considered a valid argument at present.
This connective tissue disorder can present with life-threating organ involvement with rapid progression
of disease.
Conclusion: We report two cases of MCTD, one with mild disease and another with life-threatening
illness, describing the range of severity at presentation of this disorder.
