Hemochromatosis Questions & Answers

Updated: Apr 03, 2017
  • Author: Andrea Duchini, MD; Chief Editor: Praveen K Roy, MD, AGAF  more...
  • Print
Questions & Answers

Overview

What is hemochromatosis?

What are the signs and symptoms of hemochromatosis?

What are the clinical manifestations of hemochromatosis?

How is hemochromatosis diagnosed?

Which lab studies are performed in the evaluation of suspected hemochromatosis?

What is the role of imaging studies in the diagnosis of hemochromatosis?

Which procedures may be performed to evaluate patients with hemochromatosis?

What are the indications for liver biopsy in the evaluation of hemochromatosis?

What is the goal of therapy in hemochromatosis?

What is the role of phlebotomy in the treatment of hemochromatosis?

Which iron chelation agents are used in the treatment of hemochromatosis?

When is surgery indicated in the treatment of hemochromatosis?

What is hemochromatosis?

Which genetic mutations are associated with hemochromatosis?

How is the nervous system affected by hemochromatosis?

What are the causes of secondary hemochromatosis?

What is hereditary hemochromatosis?

Why is excess iron dangerous in patients with hemochromatosis?

What is the role of iron regulation in the pathogenesis of hemochromatosis?

What is the role of genetics in the pathogenesis of hemochromatosis?

How do gene mutations cause hemochromatosis?

What are the different types of hemochromatosis?

What is the role of hepcidin deficiency in the pathogenesis of hemochromatosis?

What is the pathophysiology of autosomal dominant hemochromatosis?

What is hereditary hemochromatosis?

What is the main genetic cause of hemochromatosis?

Which hemochromatosis patients are at risk for clinical iron overload?

What is the mechanism by which gene mutation causes hemochromatosis?

How is the iron-overload phenotype of hemochromatosis characterized?

What is the relationship between hypertriglyceridemia and hemochromatosis?

Which gene mutations are involved in juvenile hereditary hemochromatosis?

How does hepcidin deficiency influence hemochromatosis?

What is the prevalence of hemochromatosis in the US?

What is the global prevalence of hemochromatosis?

What are the ethnic predilections of hemochromatosis?

What are the racial differences in incidence for hemochromatosis?

What is the relationship between type 2 diabetes and hemochromatosis?

How does the prevalence of hemochromatosis vary by sex?

How does the incidence of hemochromatosis vary by age?

How does early diagnosis affect the prognosis of hemochromatosis?

What is the most important prognostic factor for hemochromatosis?

What are potential complications of hemochromatosis?

What is the mortality rate for hemochromatosis?

What are the survival rates for hemochromatosis?

How does heterozygosity affect the mortality risk of hemochromatosis?

Presentation

What are the signs and symptoms of hereditary hemochromatosis?

At what age does hemochromatosis typically become symptomatic?

What are early symptoms of hemochromatosis?

What are the clinical manifestations of hemochromatosis?

How frequently is the liver involved in hemochromatosis?

How does cirrhosis develop in patients with hemochromatosis?

What is the relationship between nonalcoholic steatohepatitis (NASH) and hemochromatosis?

What are dermatologic symptoms of hemochromatosis?

How prevalent is diabetes mellitus (DM) in hemochromatosis?

How does hemochromatosis cause arthropathy?

Where can chondrocalcinosis occur in hemochromatosis?

What are the most commonly affected joints in hemochromatosis-related arthropathy?

What are endocrine symptoms of hereditary hemochromatosis?

What causes hypogonadism in hemochromatosis?

What causes cardiomyopathy in hemochromatosis?

What is the prevalence of osteopenia and osteoporosis in hemochromatosis?

What are the AASLD screening recommendations for hereditary hemochromatosis?

DDX

Which conditions should be included in the differential diagnoses of hemochromatosis?

Why is it important to distinguish hemochromatosis arthropathy from rheumatoid arthritis?

How is hemochromatosis differentiated from alcoholic liver disease?

Why are ineffective erythropoiesis with marrow hyperplasia included in the differential diagnoses of hemochromatosis?

Why is iron overload associated with chronic anemia included in the differential diagnosis of hemochromatosis?

Why must hypertransfusion be considered in the differential diagnosis of hemochromatosis?

Why is porphyria cutanea tarda included in the differential diagnoses of hemochromatosis?

What are the differential diagnoses for Hemochromatosis?

Workup

How is hemochromatosis diagnosed?

What is the criterion standard for diagnosis of hereditary hemochromatosis?

Which mutations are prevalent in hemochromatosis?

What is the role of transferrin saturation measurement in the diagnosis of hemochromatosis?

What is the role of hepatic iron concentration (HIC) in the diagnosis of hemochromatosis?

What is the importance of a portable hemoglobinometer in the diagnosis of hemochromatosis?

What is the role of electrocardiograms (ECGs) for the diagnosis of hemochromatosis?

When is endoscopy indicated in the evaluation of hemochromatosis?

What is the screening threshold of transferrin saturation for hemochromatosis?

What is the initial test of choice for evaluation of suspected hemochromatosis?

Which lab finding is the earliest evidence of hemochromatosis?

Which serum iron concentration suggests hereditary hemochromatosis?

What is the role of ferritin measurement in the diagnosis of hemochromatosis?

What is the significance of high ferritin levels in the evaluation of hemochromatosis?

Which serum ferritin levels suggest hemochromatosis?

What is the role of genetic tests in the diagnosis of hemochromatosis?

When is genetic testing for the HFE mutation indicated in the evaluation of hemochromatosis?

What is the prevalence of heterozygosity for C282Y in patients with hemochromatosis?

What are the limitations to genetic testing in the evaluation of hemochromatosis?

What is the role of imaging studies in the diagnosis of hemochromatosis?

What is the role of skin biopsy in the diagnosis of hemochromatosis?

What is the role of liver biopsy in the diagnosis of hemochromatosis?

What are the indications for liver biopsy in the evaluation of suspected hemochromatosis?

Which histologic findings are characteristic of hemochromatosis?

Treatment

What are the treatment approaches for hemochromatosis?

What is the goal of therapy for hemochromatosis?

What is the prevalence of the tetrad of clinical manifestations associated with hemochromatosis?

How do cardiac manifestations affect the treatment of hemochromatosis?

What is the treatment of choice for hereditary hemochromatosis?

When is inpatient care indicated for the treatment of hemochromatosis?

When transfer to a tertiary center indicated for the treatment of hemochromatosis?

What is the role of surgery in the treatment of hemochromatosis?

When is transplantation indicated in the treatment of hemochromatosis?

When is surgical arthroplasty considered as a treatment for hemochromatosis?

How is phlebotomy used to treat hemochromatosis?

How are proton pump inhibitors (PPIs) used to treat hemochromatosis?

What is the effect of phlebotomy on liver fibrosis during the treatment of hemochromatosis?

What is the efficacy of phlebotomy in the treatment of hemochromatosis?

What are the benefits of phlebotomy in the treatment of hemochromatosis?

What are risks of excessive phlebotomy in the treatment of hemochromatosis?

When is treatment with iron chelation agents indicated for hemochromatosis?

What is the role of deferasirox (Exjade) for the treatment of hemochromatosis?

What are the effects of deferasirox (Exjade) for the treatment of hemochromatosis?

What is the role of dendrimers in the treatment of hemochromatosis?

What are the treatments options for juvenile hemochromatosis?

What is the treatment options for hemochromatosis with anemia?

What dietary modifications are beneficial in the treatment of hemochromatosis?

What are the dietary recommendations for patients with hemochromatosis?

How does alcohol abuse affect the progression of hemochromatosis?

What is the role of vitamin C in the treatment of hemochromatosis?

What precautions should patients with hemochromatosis take when preparing seafood?

When is consultation with a gastroenterologist indicated in the management of hemochromatosis?

Which medical or surgical specialties should be consulted for the management of hemochromatosis?

Who should coordinate long-term care of patients with hemochromatosis?

What monitored is needed during phlebotomy therapy for hemochromatosis?

Which physicians should conduct follow-up visits for patients with hemochromatosis?

How are patients with hemochromatosis monitored for hepatocellular carcinoma (HCC)?

Guidelines

What are the CDC recommendations for hemochromatosis screening?

What is the efficacy of hemochromatosis screening?

Which individuals should be considered for screening for hemochromatosis?

What are the American Medical Association (AMA) guidelines for population screening for hemochromatosis?

What are the American Association for the Study of Liver Diseases (AASLD) screening guidelines for hemochromatosis?

Medications

Which medications are used in the treatment of hemochromatosis?

Which medications in the drug class Antidote-iron toxicity are used in the treatment of Hemochromatosis?