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Dyspnea with an Abdominal Bruit: Hereditary Hemorrhagic Telangiectasia

  • Caleb P. Canders
    Correspondence
    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.
    Affiliations
    Department of Emergency Medicine, David Geffen School of Medicine at UCLA, University of California Los Angeles, Los Angeles
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  • Eric F. Silman
    Affiliations
    Department of Emergency Medicine, David Geffen School of Medicine at UCLA, University of California Los Angeles, Los Angeles
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      Presentation

      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.

      Assessment

      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).
      Figure thumbnail gr1
      Figure 1Abdominal ultrasonography demonstrated a nodular liver and a patent portal vein (PV) with extensive collateral vasculature. The inferior vena cava (IVC) was patent and dilated from increased flow.
      Figure thumbnail gr2
      Figure 2Contrast-enhanced computed tomography of the abdomen showed dilated and tortuous hepatic arteries (HA). The liver was nearly completely replaced by telangiectasias (arrowhead). Perihepatic ascites (star) was noted. The appearances of the aorta (A) and superior mesenteric artery (s) were unremarkable.

      Diagnosis

      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.
      • Shovlin C.L.
      Hereditary haemorrhagic telangiectasia: pathophysiology, diagnosis and treatment.
      Nearly all patients develop telangiectasias of the face, oral cavity, and hands.
      • Shovlin C.L.
      Hereditary haemorrhagic telangiectasia: pathophysiology, diagnosis and treatment.
      • McDonald J.
      • Bayrak-Toydemir P.
      • Pyeritz R.E.
      Hereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesis.
      Bleeding is the most common presenting symptom of telangiectasia, and 90% of patients experience recurrent epistaxis.
      • McDonald J.
      • Bayrak-Toydemir P.
      • Pyeritz R.E.
      Hereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesis.
      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.
      • Shovlin C.L.
      Hereditary haemorrhagic telangiectasia: pathophysiology, diagnosis and treatment.
      If 3 criteria are present, the patient has a definite diagnosis; those with 2 criteria are considered to have suspected disease.
      Liver arteriovenous malformations are seen in up to 70% of patients with hereditary hemorrhagic telangiectasia.
      • Ianora A.A.
      • Memeo M.
      • Sabba C.
      • Cirulli A.
      • Rotondo A.
      • Angelelli G.
      Hereditary hemorrhagic telangiectasia: multi-detector row helical CT assessment of hepatic involvement.
      Shunts can develop between the hepatic artery and hepatic veins, hepatic artery and portal vein, or the portal vein and hepatic veins.
      • Buscarini E.
      • Plauchu H.
      • Garcia Tsao G.
      • et al.
      Liver involvement in hereditary hemorrhagic telangiectasia: consensus recommendations.
      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.
      • Shovlin C.L.
      Hereditary haemorrhagic telangiectasia: pathophysiology, diagnosis and treatment.
      • Ianora A.A.
      • Memeo M.
      • Sabba C.
      • Cirulli A.
      • Rotondo A.
      • Angelelli G.
      Hereditary hemorrhagic telangiectasia: multi-detector row helical CT assessment of hepatic involvement.
      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.
      • McDonald J.
      • Bayrak-Toydemir P.
      • Pyeritz R.E.
      Hereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesis.
      Yet screening for liver arteriovenous malformations is not recommended until symptoms develop.
      Patients with symptomatic liver arteriovenous malformations often are admitted for management of high-output cardiac failure and portal hypertension.
      • Buscarini E.
      • Plauchu H.
      • Garcia Tsao G.
      • et al.
      Liver involvement in hereditary hemorrhagic telangiectasia: consensus recommendations.
      Most patients with high-output heart failure secondary to liver arteriovenous malformations improve with correction of anemia, diuresis, antihypertensive agents, and salt restriction.
      • Buscarini E.
      • Plauchu H.
      • Garcia Tsao G.
      • et al.
      Liver involvement in hereditary hemorrhagic telangiectasia: consensus recommendations.
      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.
      • Buscarini E.
      • Plauchu H.
      • Garcia Tsao G.
      • et al.
      Liver involvement in hereditary hemorrhagic telangiectasia: consensus recommendations.

      Management

      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.

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        Hereditary hemorrhagic telangiectasia: an overview of diagnosis, management, and pathogenesis.
        Genet Med. 2011; 13: 607-616
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        Hereditary hemorrhagic telangiectasia: multi-detector row helical CT assessment of hepatic involvement.
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        • Buscarini E.
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        Liver involvement in hereditary hemorrhagic telangiectasia: consensus recommendations.
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