Connective Tissue Disorders Quiz

Connective Tissue Disorders Overview

• Heritable connective tissue disorders include Marfan syndrome, Ehlers-Danlos syndromes, hypermobility spectrum disorder, osteogenesis imperfecta, Stickler syndrome, Alport syndrome, congenital contractural arachnodactyly, Loeys–Dietz syndrome, Ullrich congenital muscular dystrophy, and Bethlem myopathy.
• Heritable connective tissue disorders are caused by defects in collagen synthesis and can affect various body sites such as joints, heart valves, and organs.
• Autoimmune connective tissue disorders may have genetic and environmental causes and are characterized by spontaneous overactivity of the immune system resulting in extra antibodies production.
• Classic collagen vascular diseases include systemic lupus erythematosus (SLE), rheumatoid arthritis, scleroderma, Sjögren's syndrome, mixed connective tissue disease, undifferentiated connective tissue disease, and psoriatic arthritis.
• SLE is an inflammation of connective tissues, more common in women, aggravated by sunlight, and can affect every organ system.
• Rheumatoid arthritis is a systemic disorder affecting joints, heart, lungs, and eyes, with a higher prevalence in women.
• Scleroderma causes scar tissue in the skin, internal organs, and small blood vessels and is more common in women, especially during childbearing years.
• Sjögren's syndrome is a chronic inability to secrete saliva and tears, affecting mostly women around mid-life.
• Mixed connective tissue disease is a disorder with features of various connective tissue diseases and is considered an intermediate stage of a disease that eventually becomes either SLE or scleroderma.
• Undifferentiated connective tissue disease is diagnosed when evidence of an existing autoimmune condition does not meet the criteria for any specific autoimmune disease.
• Other connective tissue disorders include Peyronie's disease, scurvy, and fibromuscular dysplasia.
• Peyronie's disease involves abnormal collagen growth in the penis, scurvy is caused by vitamin C deficiency leading to abnormal collagen, and fibromuscular dysplasia is a disease of blood vessels causing abnormal growth in the arterial wall.