Q7: March 2019 PLAB 1 Exam Style Question
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A 60-year-old woman attends the outpatient clinic accompanied by her daughter. She describes a year-long history of skin changes involving her hands and lower arms, characterized by tightening, and difficulty in making a fist. She mentions episodes of her fingers turning pale, blue, and then red, particularly during cold weather. Additionally, she has been experiencing dysphagia affecting both solids and liquids for the past six months. She has no significant past medical history and denies any history of smoking, alcohol consumption, or illicit drug use. On examination, the skin on her hands and lower arms is visibly taut and shiny. Her facial skin also appears slightly tight.
Which autoantibody is most likely to be present in this patient based on her clinical presentation?
A. Anti-mitochondrial antibody (AMA)
B. Anti-cyclic citrullinated peptide (Anti-CCP)
C. Anti-double-stranded DNA (Anti-dsDNA)
D. Anti-centromere antibody
E. Anti-topoisomerase I (Anti-Scl-70)
Answer: D. Anti-centromere antibody
Explanation
Diagnosis:
The symptoms described by the patient, which include skin tightening in the hands and arms, episodes of Raynaud's phenomenon, and dysphagia, strongly point towards limited cutaneous systemic sclerosis, also known as CREST syndrome (Calcinosis, Raynaud's phenomenon, Esophageal dysmotility, Sclerodactyly, and Telangiectasias).
A. Anti-mitochondrial antibody (AMA):
This antibody is linked to primary biliary cirrhosis (PBC), an autoimmune liver disease. It's not commonly associated with the symptoms described here.
B. Anti-cyclic citrullinated peptide (Anti-CCP):
These antibodies are typically associated with rheumatoid arthritis (RA), which primarily affects joints and does not manifest with the skin changes seen here.
C. Anti-double-stranded DNA (Anti-dsDNA):
This antibody is most often found in systemic lupus erythematosus (SLE), a condition that can have a wide range of symptoms including joint pain, fever, fatigue, and malar rash, but not the skin tightening described in this case.
D. Anti-centromere antibody:
Limited cutaneous systemic sclerosis is highly associated with the presence of anti-centromere antibodies. This option is the most consistent with the patient's clinical presentation, making it the correct answer.
E. Anti-topoisomerase I (Anti-Scl-70):
This antibody is commonly seen in diffuse systemic sclerosis, which would involve skin changes extending to the trunk and proximal extremities, unlike the distal skin changes described in this patient's case.
Summary:
In this case, the patient’s symptoms and clinical presentation are indicative of limited cutaneous systemic sclerosis. Anti-centromere antibodies are highly correlated with this form of the disease, making it the most likely diagnosis.
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Reference:
The Rheumatology Advances in Practice provides the scope of the British Society for Rheumatology guideline for the management of systemic sclerosis, which aims to provide a practical roadmap for management that builds upon the previous treatment guideline to incorporate advances in evidence-based treatment and increased knowledge about assessment, classification and management.
The White Rose Research Online provides a PDF version of the consensus best practice pathway for the management of cardiac disease in systemic sclerosis.