Clinical pathologic conference: A young man with a thoracoabdominal aneurysm

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. He also had developed many tender ‘lumps’ on his legs that resolved over 2 months. His primary physician suggested that these were likely superŽ cial 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’. His 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 20mg daily, furosemide 80mg daily, omeprazole 20mg daily, trazodone 50mg as needed for sleep, and lorazepam 5mg as needed for anxiety. His allergies included penicillin and sulfa drugs, which caused rashes. His past medical history was signiŽ cant for persistent neonatal jaundice during infancy. A liver biopsy at that time revealed ‘non-speciŽ 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. His mother had an immunogobulin (Ig) A deŽ ciency and a history of Hashimoto’s thyroiditis, but was otherwise healthy. The patient was single. He 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. These lesions typically resolved without any speciŽ c therapy. He related occasional episodes of blurry vision, but only recently. He has a history of poor dentition. He denied oral and genital ulcers. Dyspnea on exertion and two-pillow orthopnea were described, but had improved since the institution of medications for ‘congestive heart failure’. He complained of a variety of  eeting chest pains and progressively worsening abdominal pain, which was midline, occasionally radiating to the back, and becoming constant. He could not recall any precipitating or relieving factors for the abdominal pain. He had diffuse arthralgias that he attributed to ‘getting older’. He denied seizures or syncope, but noted increasing lightheadedness since instituting diuretics. His height was 190cm (6’2’’), weight was 119kg (263 lb), and BMI was 33. Blood pressure was 100=50 mmHg with a pulse of 76 beats per minute. He was an obese, ill-appearing male with long limbs. He had poor dentition and several lesions on his gums and buccal mucosa. The jugular venous pressure was normal. Heart auscultation revealed a regular rate and rhythm with a normal S1 and S2, and a soft S3. All peripheral pulses were intact and normal. Lungs were clear to auscultation. His abdomen was obese, soft, nontender, nondistended, and with no masses or pulsatility. Rectal exam was normal. His lower extremities displayed 3‡ pitting edema (up to the knees), brownish skin discolouration consistent with venous stasis changes, and varicose veins. Over the ensuing weeks, several studies were performed to evaluate the patient’s numerous signs and symptoms. These have been divided into ‘normal’ and ‘abnormal’ studies in Tables 1 and 2. A diagnostic procedure was performed, which required insertion of a needle through the skin. The patient aCardiovascular Division, Brigham and Women’s Hospital, Boston, MA, USA; bMayo Clinic Rochester, Rochester, MN, USA