Genetic Liver Disease

Questions discussed in this category

What parameters would you use to monitor and interpret iron levels in a hemochromatosis patient where ferritin is unreliable due to underlying chronic inflammation?

How would your recommendation change if the patient has H63 homozygous mutation?

2 Answers available

What is your approach for patients with recurrent nephrolithiasis who you have a strong suspicion for primary hyperoxaluria though genetic testing returns without any abnormalities?

1 Answer available

How do you manage significant asymptomatic indirect hyperbilirubinemia in patients with hemolytic diseases (SCD, HS, etc.)?

Do you consider starting Ursodiol? Do you perform routine abdominal ultrasound to monitor for cholelithiasis?

1 Answer available

How quickly do you expect iron stores to decrease after starting iron chelators?

After what time period would you consider adding a second iron chelator?

1 Answer available

How often do you monitor plasma oxalate levels for patients with ESKD secondary to primary hyperoxaluria who are on hemodialysis and receiving lumasiran?

1 Answer available

Under which circumstances would you prefer ropeginterferon over hydroxyurea for patients with Polycythemia Vera?

Ropeginterferon is now a preferred therapy for Polycythemia Vera (PV) as per a recent update to the NCCN guidelines.

1 Answer available

What is the indication for phlebotomy in compound heterozygous hemochromatosis?

What is the ferritin target that you would aim for? What would be your approach for a ferritin >500? When do you order an MRI liver for iron quanti...

1 Answer available

When do you refer a patient with MODY3 to GI/Hepatology for monitoring/management of hepatic adenomas?

1 Answer available

Would you treat a hemochromatosis carrier with IV iron if they have iron deficiency anemia in conjunction with elevated ferritin?

Hb <11, low iron saturation (<10%), high ferritin (>900), and low reticulocyte hemoglobin equivalent.

1 Answer available

Do you consider the use of bevacizumab in patients with HHT who have high output cardiac failure related to liver AVMs who also have cerebral AVMs?

1 Answer available

How do you diagnose sickle hepatopathy?

1 Answer available

How do you assess transaminitis in a patient with sarcoidosis with known liver involvement being treated with methotrexate?

1 Answer available

Papers discussed in this category

JAMA,

Bevacizumab in patients with hereditary hemorrhagic telangiectasia and severe hepatic vascular malformations and high cardiac output.

Ann Intern Med, 2020 Sep 08

Second International Guidelines for the Diagnosis and Management of Hereditary Hemorrhagic Telangiectasia.

Endocrine, 2019 Nov 21

Primary hepatocellular adenoma due to biallelic HNF1A mutations and its co-occurrence with MODY 3: case-report and review of the literature.

Blood, 2010-04-08

Prevalence and prognostic impact of allelic imbalances associated with leukemic transformation of Philadelphia chromosome-negative myeloproliferative neoplasms.

Blood, 2008-07-15

The revised World Health Organization diagnostic criteria for polycythemia vera, essential thrombocytosis, and primary myelofibrosis: an alternative proposal.

Seminars in hematology, 1986-04

Therapeutic recommendations in polycythemia vera based on Polycythemia Vera Study Group protocols.

N Engl J Med, 2014 Aug 28

Two clinical phenotypes in polycythemia vera.

Leukemia, 2021 Apr 28

Are polycythemia vera, essential thrombocytosis, and primary myelofibrosis 1, 2, or 3 diseases?

Blood, 2022 May 12

A randomized phase 3 trial of interferon-α vs hydroxyurea in polycythemia vera and essential thrombocythemia.

Haematologica, 2019 Apr 04

Distinguishing essential thrombocythemia V617F from polycythemia vera: limitations of erythrocyte values.

Blood, 1997 Nov 01

Treatment of polycythemia vera: the use of hydroxyurea and pipobroman in 292 patients under the age of 65 years.

Blood, 2023 Nov 30

Moving toward disease modification in polycythemia vera.

Blood, 2008 Jan 10

A dynamic prognostic model to predict survival in post-polycythemia vera myelofibrosis.

Lancet (London, England), 1978 Dec 09

Vascular occlusive episodes and venous haematocrit in primary proliferative polycythaemia.

Genetic Liver Disease

Questions discussed in this category

Papers discussed in this category

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