A 49-year-old woman comes to the office due to swelling and stiffness of the hands for the past several months. For the last year, she has also had intermittent episodes of pain and bluish discoloration of the fingers, especially when exposed to cold. The patient is unable to play tennis on weekends like she did before due to fatigue and breathlessness. She takes pantoprazole for heartburn and lisinopril for hypertension. The patient drinks alcohol on social occasions but does not smoke cigarettes. Temperature is 37.1 C (98.8 F), blood pressure is 140/90 mm Hg, and pulse is 78/min. Physical examination shows puffiness of the hands and skin thickening in the fingers, as shown in the image below. Lung auscultation reveals bibasilar fine inspiratory crackles. Which of the following tests is most likely to be positive in this patient?

Question

A 49-year-old woman comes to the office due to swelling and stiffness of the hands for the past several months.  For the last year, she has also had intermittent episodes of pain and bluish discoloration of the fingers, especially when exposed to cold.  The patient is unable to play tennis on weekends like she did before due to fatigue and breathlessness.  She takes pantoprazole for heartburn and lisinopril for hypertension.  The patient drinks alcohol on social occasions but does not smoke cigarettes.  Temperature is 37.1 C (98.8 F), blood pressure is 140/90 mm Hg, and pulse is 78/min.  Physical examination shows puffiness of the hands and skin thickening in the fingers, as shown in the image below.  Lung auscultation reveals bibasilar fine inspiratory crackles.  Which of the following tests is most likely to be positive in this patient?

Quizplus · Accepted Answer

11ec25c8_d52a_2a89_bc81_4341f65de641_MD0003_00 Systemic sclerosis (SSc, often termed scleroderma) is characterized by connective tissue thickening due to fibroblast dysfunction and increased collagen and ground substance production. Cutaneous features include thickening of the skin that begins in acral sites (hands and feet) with edema that transitions to dermal sclerosis (sclerodactyly) and obliteration of skin appendages (eg, hair follicles, sweat glands). Vascular dysfunction (eg, Raynaud phenomenon) is present in most patients. Extradermal manifestations are common, especially in patients with more extensive skin involvement. Frequent complications include esophageal dysmotility, interstitial lung disease (eg, fatigue, breathlessness, fine crackles), and hypertension (due to renal involvement). The diagnosis of SSc is based primarily on clinical manifestations and serologic markers. Antinuclear antibodies are present in almost all patients but are nonspecific. Anti-topoisomerase I (anti-Scl-70) and anti-RNA polymerase III are less sensitive but more specific and are associated with extensive disease. Anticentromere antibodies may also be seen, primarily in patients with limited disease. (Choice A) Cardiolipin is the most common phospholipid substrate used in antiphospholipid assays. Anticardiolipin antibodies are present in patients with antiphospholipid syndrome, characterized by arterial or venous thrombosis and intrauterine fetal demise. (Choice B) Rheumatoid factor is positive in a number of autoimmune disorders, most prominently rheumatoid arthritis. Anti-cyclic citrullinated peptide antibodies are a more specific marker of rheumatoid arthritis. These markers may be positive in patients who have an overlap syndrome with features of SSc, but most patients would have more prominent joint involvement (eg, symmetric morning stiffness). (Choice C) Antimitochondrial antibodies are associated with primary biliary cholangitis (primary biliary cirrhosis), which can present with fatigue, pruritus, and right upper quadrant discomfort along with an elevated serum alkaline phosphatase level. (Choice D) Anti-neutrophil cytoplasmic antibodies are present in granulomatosis with polyangiitis (Wegener granulomatosis), microscopic polyangiitis, and other forms of autoimmune vasculitis. (Choice E) Anti-smooth muscle antibodies are associated primarily with autoimmune hepatitis, which can present with a range of manifestations, from an asymptomatic elevation of aminotransferases to hepatosplenomegaly, cirrhosis, or liver failure. Educational objective: Systemic sclerosis is characterized by connective tissue thickening due to fibroblast dysfunction. Cutaneous features include thickening of the skin with dermal sclerosis and vascular dysfunction (eg, Raynaud phenomenon). Extradermal manifestations include esophageal dysmotility, interstitial lung disease, and hypertension. Anti-topoisomerase I (anti-Scl-70) is a specific serologic marker and is associated with extensive disease. References: Systemic sclerosis: an update in 2016. (http://www.ncbi.nlm.nih.gov/pubmed/26802722)

A 49-Year-Old Woman Comes to the Office Due to Swelling