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A 25-year-old Caucasian woman with a past medical history of hypertension, systemic lupus erythematosus (SLE), s/p three spontaneous abortions, severe aortic stenosis, and mild pulmonary hypertension was transferred to our dialysis clinic from another outpatient dialysis center. She had been on dialysis for four years and undergone aortic valve replacement surgery two years previously.
On admission, she complained of severe weakness and inability to perform daily regular housework. She did not complain about photosensitivity or joint pain or swelling. Her vital signs were: BP: 90/50 mm Hg, HR: 95/min., RR: 14/min., and temp. 98 F. She was obese (BMI 31 kg/m2).
On physical examination, she had a generalized skin rash (photo 1) and 5/6 systolic murmur above the aorta. However, given her past medical history of SLE, lupus serologies were repeated. The laboratory results included positive ANA (>1:40), but negative anti-dsDNA and anti-Sm. Her other blood tests yield sodium 132 mmol/L, potassium 4.8 mmol/L, hemoglobin 9.6 g/dL, WBC 10 × 103/µL, platelet 40 × 109/L. Her other laboratory results included abnormally high level of beta 2-glycoprotein 1 (B2GP-1).
Her chest X-ray was negative. An echocardiogram confirmed severe aortic stenosis in her artificial aortic valve. Subsequently, she underwent aortic valve replacement surgery, but she died during the surgery. Her aortic valve from autopsy is shown in photo 2.
Submit your diagnosis to see full explanation.
Answer: Primary antiphospholipid syndrome (APL)
The clinical history (spontaneous abortions, pulmonary hypertension, and end-stage renal disease), laboratory results (negative anti-dsDNA and anti-Sm, but positive beta 2-glycoprotein 1, low platelet count), and the lack of classification criteria for the diagnosis of SLE confirmed the diagnosis of APL.
The clinical features of APL syndrome are diverse and include superficial and deep venous thromboses, spontaneous abortions (from placental thrombosis), pulmonary hypertension, cerebral infarcts and transient ischemic attacks, Budd-Chiari syndrome, livedo reticularis, cardiac valvular disease, adrenal hemorrhage, thrombocytopenia, and vague constitutional symptoms.
Renal manifestations range from microthrombosis of glomerular capillaries and arterioles to thrombosis of the main renal artery and vein, with secondary renal cortical necrosis and infarction. Some cases are associated with ischemic subcapsular cortical scars.
These features may produce a spectrum of renal clinical manifestations, including asymptomatic hematuria and mild proteinuria, hypertension (ranging from mild to malignant range), mild to severe renal insufficiency, nephrotic-range proteinuria, and rapidly progressive renal failure.
The case was prepared by Miklos Z Molnar, MD, PhD, Research Associate, Los Angeles Biomedical Research Institute at Harbor-UCLA Medical Center, Torrance, California
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