Autoimmune Diseases

Question 1

What is CREST syndrome and what antibodies are associated with it?

Answer 1

CREST is a variant of scleroderma (disease characterized by chronic tightening of skin and connective tissues).

Stands for:

Calcinosis (calcium deposition in skin)

Reynaud’s phenomenon

Esophageal dysmotility

Sclerodactyly (thickening and tightening of skin around fingers and toes)

Telangiectasia

Associated with anti-centromere antibodies

Question 2

A middle-aged woman presents with diffuse itchiness, fatigue, and has xanthomas (photo) on exam. Labs show elevated serum cholesterol and alkaline phosphatase levels. What is your Dx? Describe the features of this disease. What antibodies are associated with this disease?

Answer 2

Primary biliary cholangitis/cirrhosis

Autoimmune destruction of intralobular bile ducts –> build up of conjugated bili and ammonia –> itching, jaundice in late disease

Associated with anti-mitochondrial antibodies

Question 3

A 38 year old patient presents with significant muscle weakness and states that she cannot climb stairs without becoming extremely tired. She also notes increased difficulty swallowing. On exam she has a periorbital rash (bilaterally). Labs show elevated CK and aldolase. What is your Dx? What antibodies are associated with this shit? What are the various treatments?

Answer 3

Dermatomyositis (polymyositis is closely related - doesn’t have the skin rashes)

Associated with anti-JO-1, anti-SRP, and anti-nuclear antibodies

Treatment: corticosteroids, methotrexate, azathioprine, cyclophosphamide, rituximab, IVIG for refractory cases of dermatomyositis (not polymyositis)