A 29-year-old generally healthy male was in his usual state of health until May 2000, when he developed a spontaneous left leg deep vein thrombosis. This was followed by several months of progressively worsening weight gain (80 lb=36.3 kg), fatigue, dyspnea on exertion, orthopnea, lower extremity edema, and intermittent abdominal pain that was occasionally severe. H e also had developed many tender 'lumps' on his legs that resolved over 2 months. H is primary physician suggested that these were likely supercial thrombophlebitis. He was referred to a regional medical center, where further evaluation was undertaken. A chest X-ray showed cardiomegaly. An echocardiogram demonstrated a globally reduced ejection fraction of 40%. A coronary angiogram was interpreted as 'essentially normal'. H is creatinine was 1.9 mg=dl and his aspartate amino transferase and alkaline phosphatase were mildly elevated. Serum ferritin, ceruloplasmin, and serum and urine protein electrophoresis were normal and Lyme serology was negative. The patient was treated with an angiotensin-converting enzyme inhibitor and furosemide for presumed congestive heart failure. Computed tomography of the abdomen was performed because of persistent and unexplained abdominal pain. It revealed a 5-cm Type III thoracoabdominal aneurysm (Figure 1), but was otherwise unremarkable. At this point, the patient was referred to a tertiary medical center for further evaluation and management.The patient had no history of coronary artery disease. He denied diabetes, hypertension, hyperlipidemia, or family history of coronary artery disease. He was an active smoker (half a pack per day for 12 years). His medications included: lisinopril 20 mg daily, furosemide 80 mg daily, omeprazole 20 mg daily, trazodone 50 mg as needed for sleep, and lorazepam 5 mg as needed for anxiety. His allergies included penicillin and sulfa drugs, which caused rashes. His past medical history was signi cant for persistent neonatal jaundice during infancy. A liver biopsy at that time revealed 'non-speci c hepatitis and possible intrahepatic biliary atresia'. The jaundice resolved spontaneously and the patient's liver function had been unremarkable since that time. The patient also had a large atrial septal defect that was repaired at age 3 years without complications.The patient's father died at 40 years old of pulmonary embolism in the setting of esophageal cancer. H is mother had an immunogobulin (Ig) A de ciency and a history of H ashimoto's thyroiditis, but was otherwise healthy. The patient was single. H e did not drink alcohol or use illicit drugs. He had worked for a number of years as a farm laborer, but was currently working as a nursing assistant in a mental health facility.On systems review, he reported prior evaluation for a slightly unusual body habitus with central obesity and long limbs. Previous genetic and hormonal studies attempting to explain his morphology had been negative. He had chronic intermittent skin rashes described as pustular lesions that resembled chickenpox. The...