IMAGES IN RADIOLOGY

Robert G. Stern, MD, Section Editor

Dyspnea with an Abdominal Bruit:

Hereditary Hemorrhagic Telangiectasia
Caleb P. Canders, MD, Eric F. Silman, MD
Department of Emergency Medicine, David Geffen School of Medicine at UCLA, University of California Los Angeles, Los Angeles.

PRESENTATION DIAGNOSIS
A 75-year-old woman developed complications from a he- The patient’s clinical presentation led to a diagnosis of he-
reditary disease that had not been previously diagnosed. reditary hemorrhagic telangiectasia complicated by arterio-
Over preceding weeks, she had experienced exertional venous malformations of the liver. Echocardiography
dyspnea and painless swelling in her lower extremities. She demonstrated a cardiac index of 8 L/min/m2 (normal,
denied chest pain or difficulty breathing when lying flat. Of 2.6-4.2 L/min/m2), consistent with high-output heart failure.
note, she had a personal and family history of recurrent Hereditary hemorrhagic telangiectasia, also known as
spontaneous nosebleeds since childhood, but no episodes Osler-Weber-Rendu syndrome, is an autosomal dominant
had occurred recently. disorder affecting 1 in 5,000 individuals.1 Nearly all patients
develop telangiectasias of the face, oral cavity, and hands.1-2
Bleeding is the most common presenting symptom of tel-
ASSESSMENT angiectasia, and 90% of patients experience recurrent
On examination, the patient’s pulse was 110 beats per epistaxis.2
minute, blood pressure was 100/60 mmHg, respiration rate Patients with arteriovenous malformations typically pre-
was 18 breaths per minute, oxygen saturation was 99% on sent with symptoms secondary to blood shunting. Diagnosis
room air, and she was afebrile. She had multiple pinpoint, of hereditary hemorrhagic telangiectasia is based on clinical
blanching, punctate lesions on her cheeks. A cardiac traits known as the Curaçao criteria. These are spontaneous
examination revealed sinus tachycardia but no extra heart recurrent nosebleeds; telangiectasias of the lips, oral cavity,
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/mL. Results from a compre-
hensive 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 to-
mography (CT) of the abdomen and pelvis was performed
(Figure 2).

Funding: None.
Conflicts of Interest: None.
Authorship: Both authors had a role in writing the manuscript.
Requests for reprints should be addressed to Caleb P. Canders, MD, Figure 1 Abdominal ultrasonography demonstrated a nodular
Department of Emergency Medicine, David Geffen School of Medicine at liver and a patent portal vein (PV) with extensive collateral
UCLA, University of California Los Angeles, 924 Westwood Boulevard, vasculature. The inferior vena cava (IVC) was patent and
Suite 300, Box 951777, Los Angeles, CA 90095-1777. dilated from increased flow.
E-mail address: ccanders@mednet.ucla.edu

0002-9343/$ -see front matter Ó 2014 Elsevier Inc. All rights reserved.
http://dx.doi.org/10.1016/j.amjmed.2014.08.014
1168
Figure 2 Contrast-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 appear-
ances of the aorta (A) and superior mesenteric artery (s) were
unremarkable.
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.1 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 telangiecta-
sia.3 Shunts can develop between the hepatic artery and
hepatic veins, hepatic artery and portal vein, or the portal
vein and hepatic veins.4 Less than 10% of liver arteriove-
nous malformations become symptomatic. Patients may
present with portal hypertension, encephalopathy, or
symptoms of high-output cardiac failure, such as dyspnea,
ascites, and edema.1,3 The diagnosis of a liver arteriovenous
The American Journal of Medicine, Vol 127, No 12, December 2014
malformation can be made with abdominal ultrasonography
or CT. Pulmonary and cerebral arteriovenous malforma-
tions often present as catastrophic bleeds, whereas signs
and symptoms of liver arteriovenous malformations usually
have an insidious onset.2 Yet screening for liver arterio-
venous malformations is not recommended until symptoms
develop.
Patients with symptomatic liver arteriovenous malfor-
mations often are admitted for management of high-output
cardiac failure and portal hypertension.4 Most patients
with high-output heart failure secondary to liver arteriove-
nous malformations improve with correction of anemia,
diuresis, antihypertensive agents, and salt restriction.4 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 pallia-
tive treatment in patients who have failed medical therapy
and are not transplant candidates.4
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.
References
1. Shovlin CL. Hereditary haemorrhagic telangiectasia: pathophysiology,
diagnosis and treatment. Blood Rev. 2010;24:203-219.
2. McDonald J, Bayrak-Toydemir P, Pyeritz RE. Hereditary hemorrhagic
telangiectasia: an overview of diagnosis, management, and pathogen-
esis. Genet Med. 2011;13:607-616.
3. Ianora AA, Memeo M, Sabba C, Cirulli A, Rotondo A, Angelelli G.
Hereditary hemorrhagic telangiectasia: multi-detector row helical CT
assessment of hepatic involvement. Radiology. 2004;230:250-259.
4. Buscarini E, Plauchu H, Garcia Tsao G, et al. Liver involvement in
hereditary hemorrhagic telangiectasia: consensus recommendations.
Liver Int. 2006;26:1040-1046.