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Requests for reprints should be addressed to Caleb P. Canders, MD, Department of Emergency Medicine, David Geffen School of Medicine at UCLA, University of California Los Angeles, 924 Westwood Boulevard, Suite 300, Box 951777, Los Angeles, CA 90095-1777.
A 75-year-old woman developed complications from a hereditary disease that had not been previously diagnosed. Over preceding weeks, she had experienced exertional dyspnea and painless swelling in her lower extremities. She denied chest pain or difficulty breathing when lying flat. Of note, she had a personal and family history of recurrent spontaneous nosebleeds since childhood, but no episodes had occurred recently.
On examination, the patient's pulse was 110 beats per minute, blood pressure was 100/60 mmHg, respiration rate was 18 breaths per minute, oxygen saturation was 99% on room air, and she was afebrile. She had multiple pinpoint, blanching, punctate lesions on her cheeks. A cardiac examination revealed sinus tachycardia but no extra heart sounds. Her lungs were clear. An abdominal examination disclosed a right upper quadrant bruit, but no tenderness, rigidity, organomegaly, or ascites were evident. She had pitting edema in her ankles bilaterally and warm skin throughout.
Blood testing revealed the following: hemoglobin, 12.3 g/dL; white blood cell count, 5.6 x 103 cells/mm3; and a platelet count of 214,000 cells/μL. Results from a comprehensive metabolic panel and coagulation studies were normal. Chest radiography was unremarkable. Bedside ultrasonography identified numerous vascular abnormalities in the liver (Figure 1). Contrast-enhanced computed tomography (CT) of the abdomen and pelvis was performed (Figure 2).
The patient's clinical presentation led to a diagnosis of hereditary hemorrhagic telangiectasia complicated by arteriovenous malformations of the liver. Echocardiography demonstrated a cardiac index of 8 L/min/m2 (normal, 2.6-4.2 L/min/m2), consistent with high-output heart failure.
Hereditary hemorrhagic telangiectasia, also known as Osler-Weber-Rendu syndrome, is an autosomal dominant disorder affecting 1 in 5,000 individuals.
Patients with arteriovenous malformations typically present with symptoms secondary to blood shunting. Diagnosis of hereditary hemorrhagic telangiectasia is based on clinical traits known as the Curaçao criteria. These are spontaneous recurrent nosebleeds; telangiectasias of the lips, oral cavity, fingertips, or nose; arteriovenous malformations of the gastrointestinal tract, lungs, brain, liver or spine; and a history of hereditary hemorrhagic telangiectasia in a first-degree relative.
Less than 10% of liver arteriovenous malformations become symptomatic. Patients may present with portal hypertension, encephalopathy, or symptoms of high-output cardiac failure, such as dyspnea, ascites, and edema.
The diagnosis of a liver arteriovenous malformation can be made with abdominal ultrasonography or CT. Pulmonary and cerebral arteriovenous malformations often present as catastrophic bleeds, whereas signs and symptoms of liver arteriovenous malformations usually have an insidious onset.
Liver transplantation is an option for patients who fail to respond to intensive medical therapy. Transarterial embolization of liver arteriovenous malformations has been used as palliative treatment in patients who have failed medical therapy and are not transplant candidates.
Our patient was treated with furosemide, 80 mg by mouth, twice daily, spironolactone, 25 mg by mouth, daily, and salt restriction. Her symptoms improved within 48 hours, and she was discharged home on this regimen. She was referred for outpatient liver transplant evaluation.
Hereditary haemorrhagic telangiectasia: pathophysiology, diagnosis and treatment.