A 22-year-old woman comes to the office due to a 6-month history of progressive pain and swelling of the hands. She also reports bluish discoloration of the fingers when exposed to the cold and frequent episodes of food getting stuck in her chest while swallowing. She has no prior medical problems and takes no medications. The patient does not use tobacco, alcohol, or illicit drugs. Temperature is 37.1 C (98.8 F), blood pressure is 120/80 mm Hg, and pulse is 76/min. There is an erythematous rash over the malar area and nasal bridge. The skin of her hands appears shiny and thick, with small ulcers at the fingertips. The hand joints and wrists are swollen and tender. Laboratory results are as follows: This patient most likely will exhibit clinical manifestations of which of the following conditions in the future?

Question

A 22-year-old woman comes to the office due to a 6-month history of progressive pain and swelling of the hands.  She also reports bluish discoloration of the fingers when exposed to the cold and frequent episodes of food getting stuck in her chest while swallowing.  She has no prior medical problems and takes no medications.  The patient does not use tobacco, alcohol, or illicit drugs.  Temperature is 37.1 C (98.8 F), blood pressure is 120/80 mm Hg, and pulse is 76/min.  There is an erythematous rash over the malar area and nasal bridge.  The skin of her hands appears shiny and thick, with small ulcers at the fingertips.  The hand joints and wrists are swollen and tender.  Laboratory results are as follows:  This patient most likely will exhibit clinical manifestations of which of the following conditions in the future?

Quizplus · Accepted Answer

11ec25c8_d50e_16d5_bc81_9f6897e22faf_MD0003_00 Mixed connective tissue disease (MCTD) is an autoimmune disorder characterized by variable clinical features of systemic lupus erythematosus (SLE), systemic sclerosis (SSc), and polymyositis. Its incidence is highest in young women. Patients may initially have systemic symptoms (eg, fever, fatigue), and the distinctive overlap features of SLE, SSc, and polymyositis typically appear sequentially over time. The most important diagnostic manifestations include Raynaud phenomenon, swelling of the fingers and hands, inflammatory arthritis (resembling rheumatoid arthritis), and myositis (histopathologically identical to polymyositis). Patients may develop a malar rash or discoid plaques resembling SLE, but renal and central nervous system manifestations (eg, cranial neuropathies) are generally mild. The course of MCTD is variable, and pulmonary hypertension is the most common cause of death. The most important serologic marker for MCTD is autoantibodies for U1 ribonucleoprotein (anti-U1 RNP), which has high sensitivity and specificity. Other markers (eg, antinuclear antibodies, rheumatoid factor) may also be positive. Treatment includes systemic glucocorticoids and corticosteroid-sparing agents (eg, methotrexate). This patient has a positive anti-U1 RNP associated with inflammatory arthritis, Raynaud phenomenon, and features of SSc (sclerodactyly, esophageal dysmotility) as well as SLE (malar rash). She therefore has a high likelihood of developing manifestations of polymyositis. (Choices A, B, and C) Ankylosing spondylitis is characterized by chronic back pain, loss of spinal mobility, and inflammation of ligamentous attachments and is associated with HLA-B27. Granulomatosis with polyangiitis (formerly Wegener granulomatosis) causes multisystem vasculitis with prominent upper or lower respiratory features; most patients are positive for antineutrophil cytoplasmic antibody. Arthritis associated with inflammatory bowel disease can manifest as large-joint oligoarthritis, symmetric small-joint arthritis, or spondylarthritis and is associated with HLA-B27 and HLA-DR103. These conditions typically are neither associated with anti-U1 RNP positivity nor preceded by the overlap features seen in this patient. (Choice E) Thrombotic thrombocytopenic purpura (TTP) is usually due to an acquired autoantibody to ADAMTS13, a plasma protease that cleaves von Willebrand factor off the endothelial surface. It is often idiopathic but can be triggered by infections (eg, HIV), malignancy, or medications. Although TTP is a rare complication of some autoimmune conditions (especially SLE), this patient with MCTD is more likely to develop polymyositis than TTP. Educational objective: Mixed connective tissue disease is characterized by clinical features of systemic lupus erythematosus, systemic sclerosis, and polymyositis, which appear sequentially. Important manifestations include Raynaud phenomenon, swelling of the fingers and hands, inflammatory arthritis, and myositis. Autoantibodies for U1 ribonucleoprotein have high sensitivity and specificity. References: Mixed connective tissue disease. (http://www.ncbi.nlm.nih.gov/pubmed/27421219)

A 22-Year-Old Woman Comes to the Office Due to a 6-Month