A 37-year-old woman with history of ulcerative colitis and focal nodular hyperplasia (FNH) of the liver presented with right upper quadrant (RUQ) abdominal pain. An extensive workup including endoscopic retrograde cholangiopancreatography (ERCP) eventually diagnosed primary sclerosing cholangitis (PSC). However, review of systems was also significant for epistaxis. Family history was significant for father with hereditary hemorrhagic telangiectasia (HHT). Physical exam did not reveal any lesions. MRI liver showed dilated bile ducts, prominent vascular channels at hilum, hepatic congestion, right lobe cystic lesions and left lobe FNH. These findings prompted a liver biopsy which revealed arteriovenous malformation. A diagnosis of HHT was made based on the consensus criteria. Of note, CT chest revealed cardiomegaly and findings suggestive of pulmonary arterial hypertension. She was discharged with transplant hepatology follow up for her PSC.
Discussion:
HHT is a rare autosomal dominant disorder involving the vasculature in multiple organ systems. Clinical features include epistaxis, gastrointestinal bleeding, anemia, mucocutaneous telangiectasia and visceral arteriovenous malformations (AVM). Consensus criteria conclude a definite diagnosis if three or more of the following are present: epistaxis, mucocutaneous telangiectasia, visceral AVMs and 1st degree relative with HHT. HHT is likely under recognized and diagnosis requires a high index of clinical suspicion. Interestingly, our patient’s FNH may be related to her HHT as well. FNH has a much higher prevalence in HHT patients with liver AVMs. The increased blood supply due to the AVMs is considered responsible for hepatic hyperplasia. In addition, patients with HHT can have multiple areas of intrahepatic biliary dilation similar in pattern to sclerosing cholangitis as this patient had. This is thought to occur due to ischemic changes secondary to AVMs. Diagnosis of HHT is important because screening for visceral AVMs may be important to avoid negative outcomes such as pulmonary hypertension, heart failure, cerebral bleeding, and stroke. Our patient’s possible pulmonary hypertension was found incidentally on CT and should be followed up with a transthoracic echocardiogram or right heart catheterization.
Conclusions:
HHT is a rare disorder which has several manifestations associated with high morbidity and mortality. The diagnosis is easy to miss without high clinical suspicion. A thorough patient history along with a high clinical suspicion is key to diagnosing HHT. Lack of appreciation of HHT manifestations can delay diagnosis resulting in progression of the disease and ultimately, poor outcomes for patients and families.