A 40 year-old female with a history of recurrent nosebleeds presents to hepatology clinic for persistently elevated liver enzymes. Lab work-up reveals total bilirubin 1.0 mg/dL, alkaline phosphatase 247 U/L, ALT 90 U/L, AST 53 U/L, INR 1.0, hemoglobin 7.5 g/dL and platelet count 250 K/cmm. Iron studies reveal ferritin 12 ng/mL, iron 20 ug/dL, transferrin saturation 5%.

On physical exam she has multiple small telangiectasias on her trunk, upper extremities, lips and oral mucosa. Non-tender hepatomegaly is noted on abdominal exam.

Her mother also suffers from recurrent nosebleeds, iron deficiency anemia and has similar telangiectasias on her lips and trunk.

What is not recommended as part of the work-up for this condition?

A 47-year-old male presents with painless jaundice.  He also reports decreased appetite and energy, along with diffuse itching, pale stools, and dark urine. He denies any weight loss or history of liver disease. His physical exam is notable for jaundice and his labs show cholestasis (total bilirubin 6.3, primarily conjugated, and alkaline phosphatase of 347) and elevated transaminases (AST 160 and ALT 547). A MRCP shows intra-hepatic biliary dilation and retroperitoneal fibrosis without a mass or filling defect

What is the most likely underlying diagnosis?

A 60 year old male with a history of HTN, arthritis, diabetes and stroke presents to hepatology clinic for evaluation of fatigue and a positive hepatitis C antibody. Additional lab work reveals a total bilirubin of 1.0 mg/dL, alkaline phosphatase of 90 U/L, AST of 100 U/L, ALT of 80 U/L, INR 1.2, platelet count of 160, hemoglobin of 13 g/dL. ASMA, ANA, Hep B serologies were negative. Hepatitis C viral load could not be processed in the lab due to an ‘inadequate sample.’ Iron studies were obtained which revealed a ferritin of 1481 ng/mL, iron of 184 ug/dL, and transferrin saturation of 60.5%.  Patient denies alcohol use, denies new medications.

On physical exam, there is no evidence of volume overload or hepatosplenomegaly. His second and third metacarpophalangeal joints appear swollen and enlarged bilaterally. No skin lesions or hyperpigmentation noted.

Family history is notable for his sister who was recently found to have abnormal liver chemistries, which the patient thinks is also due to Hepatitis C

A 28-year-old woman presents with progressive right upper quadrant pain, fever, and non-productive cough. She is 32 weeks pregnant. On admission she is febrile to 39°C and her physical examination is notable for right upper quadrant tenderness as well as a gravid uterus. She has no scleral icterus. Her lungs are clear. She has no visible oral or genital lesions or skin rashes on examination. She is not encephalopathic. She only takes folic acid and denies taking any other medications. She does not drink alcohol or use illicit drugs. She has not had any recent travel. Her labs on admission are WBC 2.8, Hct 30, Plts 85, ALT 9678, AST 8756, ALP 150, Tbili 1.4, INR 1.8. A Tylenol level is undetectable. Hepatitis A, B, and C testing are negative. A pelvic ultrasound shows a viable fetus. A doppler ultrasound of the liver is normal. What is the next best step in management? 

A 60-year-old male with a history of HBV exposure, HCV with spontaneous clearance, and myelofibrosis with transfusion-dependent pancytopenia presents with tense ascites and coffee ground emesis. On exam he has massive splenomegaly and a nontender abdomen. Labs are notable for a hemoglobin of 6 gm/dL, platelet count of 12 K/L, INR of 1.2, and normal liver profile. Fluid studies from paracentesis reveal a serum-ascites albumin gradient (SAAG) of 1.8 gm/dL and total protein of 1.7 gm/dL, consistent with portal hypertension. EGD shows multiple columns of non-bleeding large esophageal varices with stigmata of recent bleeding, gastric varices, and portal hypertensive gastropathy. A transjugular liver biopsy with pressure measurement shows a hepatic venous pressure gradient (HVPG) of 10 mmHg. Pathology reveals minimal fibrosis, CD34+ cells within the sinusoids, and reticulin stain shows diffuse nodules surrounded by a compressed reticulin network.

In addition to extramedullary hematopoiesis due to myelofibrosis and increased portal flow, what other entity is contributing to this patient’s portal hypertension?

A 66-year-old male with a past medical history of primary biliary cholangitis s/p orthotopic liver transplant 10 months ago, ESRD s/p kidney transplant 2 months ago, presents with shortness of breath and dyspnea on exertion. His symptoms have gradually worsened over 2 weeks, and he is now short of breath walking across a room. He denies fevers, chills, and sick contacts. He is compliant with his medications and currently on prednisone, mycophenolate mofetil, and tacrolimus for immunosuppression. Liver chemistries are within normal limits and chest imaging shows a large right pleural effusion and right anterior chest wall mass. What is the most likely underlying diagnosis?

Learn about the diagnostic approach to cholestasis in pediatrics, focused on a case of a 5-day-old baby with persistence jaundice and hyperbilirubinemia.

A 63-year-old female presents to the ER with right upper quadrant pain and jaundice. History is notable for a hepatic abscess thought to be secondary to acute cholecystitis three months ago at an outside hospital. At that time, AST was 300 U/L, ALT 200 U/L, alkaline phosphatase 113 U/L, and total bilirubin of 3.5 mg/dL. Hospital course was complicated by Escherichia coli bacteremia. The hepatic abscess was ultimately drained and culture results were positive for Klebsiella pneumoniae and Escherichia coli. The patient was discharged on antibiotics and told to follow up with surgeons for a cholecystectomy. The patient now re-presents with pain and jaundice. On exam, the patient is febrile to 38.9°C, BP 120/60, heart rate 96 bpm. Labs are now significant for conjugated hyperbilirubinemia of 8.8 mg/dL, alkaline phosphatase of 1844 U/L, AST 418 U/L, and ALT 215 U/L. No leukocytosis or eosinophilia is present. An ultrasound in the ER reveals signs of chronic cholecystitis and a large fluid collection in the right lobe of the liver.

A 5 month old FT baby boy presented with a five day history of abdominal distention, jaundice and was found to have significant ascites and elevated AFP. Laboratory evaluation was significant for hypoalbuminemia (albumin-1.8 g/dL), coagulopathy (INR-3.5) and elevated alpha-feto protein (23,300 ng/mL). Whole exome sequencing was non-diagnostic and he was diagnosed with cryptogenic cirrhosis. During his admission his ascites is refractory to both medical therapy and repeat paracentesis. He is listed for liver transplant. Of the following, what is the best predictor of post-transplant mortality and graft survival?

25-year-old female with hyperthyroidism who is 30 weeks pregnant initially presented with costovertebral tenderness, pelvic pain and nausea. Pain resolved after passing a kidney stone, but  initial labs are concerning for abnormal liver chemistries with AST of 118 U/L, ALT of 162 U/L, alkaline phosphatase of 200 U/L, Total Bilirubin of 2.0 mg/dL and INR of 1.0.  What is the next best step?