A 45-year-old Caucasian female suffers from recurrent nonpitting edema of the hands. She often wears warm gloves indoors because her fingers turn blue when they are cold. She also complains of retrosternal burning and regurgitation, especially when supine. Which of the following antibodies is most likely to be found in this patient?

Question

A 45-year-old Caucasian female suffers from recurrent nonpitting edema of the hands.  She often wears warm gloves indoors because her fingers turn blue when they are cold.  She also complains of retrosternal burning and regurgitation, especially when supine.  Which of the following antibodies is most likely to be found in this patient?

Quizplus · Accepted Answer

There are two main subtypes of systemic sclerosis: diffuse scleroderma, which is characterized by diffuse skin and visceral involvement, and CREST syndrome, which is associated with localized skin involvement and a more benign course. "CREST" is an acronym for the signs and symptoms: Calcinosis, Raynaud's phenomenon, Esophageal dysmotility, Sclerodactyly and Telangiectasias. Anti-centromere antibodies are specific for CREST syndrome and found in 40% of cases. Anti-DNA topoisomerase I (Scl-70) antibodies are highly specific for systemic sclerosis (diffuse scleroderma). The patient in the vignette has CREST syndrome. Raynaud's phenomenon causes painful episodes of pallor, cyanosis, and erythema of the hands in response to cold or emotional stress. These episodes of vasospasm can last minutes to hours. Esophageal dysmotility is the result of fibrosis of the distal esophagus with associated esophageal hypomotility. It manifests with symptoms of gastroesophageal reflux (heartburn and regurgitation). Sclerodactyly is thickening of the skin of the hands and feet. It begins as non-pitting edema of the hands and fingers. Later in the course of the disease, the skin becomes thickened, tight and shiny. Thinning of the skin (atrophy) follows. Telangiectasias (dilated blood vessels) occur on the skin of the face, hands and upper trunk, and on mucosal surfaces. Calcinosis refers to subcutaneous calcium deposits which may be asymptomatic or painful. (Choice A) Anti-dsDNA antibodies are specific for systemic lupus erythematosus (SLE). Patients with SLE commonly have a malar ("butterfly") facial rash that worsens with sun exposure. Patients also complain of low-grade fever, joint swelling and/or tenderness, and oral ulcers. (Choice C) Anti-histone antibodies are found in drug-induced lupus. Procainamide, hydralazine, isoniazid, and D-penicillamine are common causes of drug-induced lupus. Symptoms resemble those of SLE, but without renal or CNS involvement. (Choice D) Anti-Ro/SSA and anti-La/SSB antibodies are found in patients with Sjogren syndrome. This condition is characterized by keratoconjunctivitis sicca (dry eyes) and xerostomia (dry mouth). There may also be parotid gland enlargement, increased risk of other autoimmune diseases, and increased risk of non-Hodgkin lymphomas. (Choice E) Anti-phospholipid antibodies are found in patients with SLE and in antiphospholipid antibody syndrome. Antiphospholipid antibody syndrome causes a hypercoagulable state and patients may suffer recurrent miscarriages. Partial thromboplastin time (PTT) is paradoxically increased in these patients despite the propensity toward thrombosis. Educational Objective: CREST syndrome (limited scleroderma) manifests with calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly and telangiectasias. Anti-centromere antibodies are found in about 40% of patients with CREST syndrome. Anti-DNA topoisomerase I (Scl-70) antibodies are highly specific for systemic sclerosis.

A 45-Year-Old Caucasian Female Suffers from Recurrent Nonpitting Edema of the Hands