Final answer:
Rheumatoid arthritis (RA) is an autoimmune disease affecting synovial joints, leading to painful and disfigured joints, typically beginning in the phalanges. Most common in middle-aged females, its diagnosis and management involve various imaging and blood tests, as well as medications and lifestyle adjustments.
Step-by-step explanation:
The autoimmune disease characterized by disfigured joints usually presenting first in the phalanges is rheumatoid arthritis (RA). RA is a chronic inflammatory disorder that affects synovial joints, leading to swelling, stiffness, and pain. The body's immune system mistakenly targets healthy tissues, particularly the joint capsule and synovial membrane, resulting in cartilage breakdown and bone damage. This condition commonly presents in the hands, feet, and cervical spine and is more prevalent in females, especially post-menopausal individuals, with an age of onset typically between 40 and 50 years. Diagnosis includes symptom observation, imaging tests such as X-rays and MRIs, and blood tests for specific biomarkers. Treatments focus on symptom relief and may involve exercise, medications, and possibly surgery to manage disease progression.
While the exact cause of RA is unclear, researchers believe there could be a genetic component, potentially one that is X-linked. The pathogenesis involves type III hypersensitivity reactions and activation of CD4 T cells, leading to chronic inflammatory cytokine release and joint damage. Autoantibodies, such as rheumatoid factor (RF) and anticyclic citrullinated peptide antibodies (anti-CCP), play a role in the progression of this autoimmune disorder.