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An HAML poor in fat may be misdiagnosed and frequently confused with hepatocellular carcinoma, hepatocellular adenoma, and cholangiocarcinoma, among others.
In contrast, with high fat content, it can resemble a lipoma.
Case Presentation
A 53-year-old man with an intellectual disability and Cowden syndrome presented with vomiting, abdominal distention, and lethargy. Laboratory tests revealed WBC 13.1 k/μL, lipase 2147 U/L, aspartate aminotransferase 110 U/L, alanine aminotransferase 159 U/L, alkaline phosphatase 137 U/L, and total bilirubin 2.5 mg/dL. A contrasted abdominal CT scan showed acute cholecystitis, a common bile duct measuring 9 mm with possible choledocholithiasis, and an interval increase of a previously documented hypodense lesion in the caudate lobe measuring 2.4 cm concerning for possible neoplasm (Fig. 1). An MRI or magnetic resonance cholangiopancreatography was not feasible because of the presence of a vagal nerve stimulator implant. Our patient had significant developmental delay and was not deemed a transplant candidate; however, the family requested a diagnostic work-up of the liver lesion. Laparoscopic cholecystectomy was performed and intraoperative cholangiogram was positive, so an ERCP/EUS was scheduled because the lesion was not easily accessible percutaneously.
Figure 1Lesion in caudate lobe of liver seen on a CT scan with contrast.
Upon endoscopic examination, esophageal glycogen acanthosis and gastric polyposis were noted (Figs. 2 and 3). Transduodenal EUS views revealed evidence of choledocholithiasis with dilated common bile duct. On transgastric views, a round, hyperechoic, homogeneous, solid lesion with well-defined borders measuring 2.3 × 2 cm was appreciated in the caudate lobe of the liver (Video 1, available online at www.giejournal.org). Color Doppler confirmed lack of significant vascular structures. Two passes were made with the 22-gauge needle using the slow-pull technique. Cytological rapid on-site evaluation was available and specimen adequacy was confirmed. Subsequently, an ERCP with sphincterotomy and balloon extraction of bile duct stones was performed.
Figure 2Esophageal glycogen acanthosis seen on EGD.
Pathologic diagnosis was consistent with hamartomatous growth in the liver analogous to angiomyolipoma (Figure 4, Figure 5, Figure 6).
Figure 4Angiomyolipoma seen on EUS. Long arrow shows the lesion, small arrow points to the middle hepatic vein, and arrowhead shows the inferior vena cava.
Ultrasound evaluation of HAMLs can reveal hyperechoic lesions when lipomatous and myomatous tissues predominate, or hypoechoic lesions when there is more angiomatous tissue.
Use of contrast usually reveals a hyper-enhancing pattern in the arterial phase with prolonged enhancement in the venous phase. With EUS, benign liver lesions are usually hyperechogenic, not round or oval shaped. Malignant lesions are usually heterogeneous, have postacoustic enhancement, are hypoechogenic, are greater than 1 cm, and have distortion of adjacent structures (See Table 1).
Cowden syndrome is one of the hereditary multisystem syndromes caused by mutations in the PTEN gene. Patients usually have benign overgrowths or hamartomas, but screening for cancers (colon, thyroid, breast, kidney, skin) is recommended.
The HAML lesion was likely related to PHTS (PTEN hamartoma tumor syndrome). There is at least 1 case report of multiorgan hamartomas, including the liver, in a patient with Cowden syndrome.
While there are no established guidelines for surveillance of HAMLs, our patient will have a CT scan every 2 years to monitor interval growth.
Even though HAMLs are usually benign, they are often confused with other malignant tumors. EUS-guided biopsy is a useful method for diagnosis with results comparable with interventional radiology techniques and a good safety profile.
Successful histological diagnosis decreases morbidity and mortality and directs management decisions.
There is scant EUS literature on the topic of HAML. Our article highlights the EUS findings of this rare condition and the advantage of EUS-guided tissue diagnosis in difficult-to-access lesions.
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