Featured ArticleHereditary Hemochromatosis: New Guidelines and Implications for Primary Care
Section snippets
The Case of Mr. Jones
Mr. Jones, a 44-year-old White man, presented to the primary care office to see the nurse practitioner for a routine follow-up visit for hypertension, hyperlipidemia, and ongoing generalized fatigue. His medications included olmesartan (20 mg daily) and lovastatin (20 mg daily). As part of his routine examination, Mr. Jones was questioned about his social habits, and he said he drank approximately 1 to 2 beers a day most days of the week. He further explained that approximately 10 years ago he
Differential Diagnosis
The most common reason for elevated liver enzymes is nonalcoholic fatty disease (NAFLD) or alcoholic liver disease. There are 2 forms of NAFLD. The more common form of NAFLD causes hepatic steatosis without inflammation.1 The second more severe type causes inflammation, hepatocyte injury, and less frequently, fibrosis. Alcoholic liver disease presents similarly to NAFLD; however, the underlying cause is not fat displacement in the liver but rather excessive alcohol intake. If history is unclear
Diagnostic Studies
Because of the differential diagnosis and to follow-up on his mildly elevated serum transaminases, further laboratory studies were ordered, which included a hepatitis panel, serum iron level, total iron binding capacity, serum ferritin, and iron saturation. The patient’s hepatitis panel was negative, but his iron studies revealed a marked elevation of serum ferritin, a mild elevation of serum iron and iron saturation, and a decreased total iron binding capacity. The results are listed in the
Background
HH affects approximately 1 in 300 non-Hispanic White people in the United States. At least 1 in 10 people is a carrier for the mutation.2,4 HH is described as an iron absorption disorder because it results in iron overload and is the most common inherited genetic disorder for those who are of northern European descent. This overload is caused by low levels of hepcidin. Hepcidin, a liver-synthesized peptide, is the main hormone responsible for the regulation of iron uptake from the small
Presentation
There are several ways that patients with HH could present in primary care. Common symptoms include fatigue and joint pain, but these nonspecific complaints can be easily mistaken for many conditions.2,4,7, 8, 9 More commonly, however, patients present incidentally from abnormal laboratory test results and experience no symptoms.2,9 Expression of the disease is influenced by sex and age. Women may manifest the disease less frequently due to blood loss in menstruation and pregnancy. Owing to the
New Guidelines for Primary Care Providers
With greater awareness regarding the possibility of HH in primary care, there is a higher potential for early diagnosis and, thus, initiation of treatment.8 The American College of Gastroenterology has published new clinical guidelines for HH.6 However, no guideline should replace good clinical judgment in determining possible causes.5
Diagnostic Approach
The screening of the general population for the HH gene mutation is not recommended because the C282Y gene is variably present in the population but may not be expressed clinically. However, if the patient with HH has first-degree relatives, these relatives should be screened,6,8 especially because there is a 1 in 4 chance of siblings being affected.5
In patients with iron overload, the provider should send laboratory orders for HFE genotyping, which will detect the presence of the 3 subtypes of
Treatment
In years past, those with HH were asymptomatic until they suffered irreversible organ damage, usually in the liver. Symptomatic patients are usually past the point in which treatment would help. Treatment goals today are to prevent organ damage, improve symptoms, and preserve normal life expectancy. Those who are treated for HH in the absence of cirrhosis or diabetes have the same survival rate as the general population.12
The only way the body can rid itself of excess iron is through blood
When to Refer
If ultrasonography shows that the patient has hepatic fibrosis or another liver disease, the provider should refer the patient to a gastroenterologist for a liver biopsy to determine the cause.6,8 Patients with decompensated cirrhosis or hepatocellular carcinoma should be considered for liver transplantation.6
Patient Education
Patients should be provided with relevant education and lifestyle recommendations. Specifically, patients should be advised to avoid iron and vitamin C supplements and certain foods, including multivitamins with iron and citrus fruits, because these supplements and foods promote iron absorption. They should also be told to consume red meat in moderation and avoid consuming or handling raw seafood because of an increased risk of Vibrio vulnificus infection. Patients should also be educated to
What Happened to Mr. Jones?
Mr. Jones was referred to a gastroenterologist for confirmed HH. Mr. Jones’ initial liver ultrasound study in primary care was negative. While ultrasonography can be a reliable test for liver disease with 91% accuracy,13 this means that 9% of patients are not accurately diagnosed; as such, a liver biopsy is indicated. During this consult, a liver biopsy was performed and the sample showed increased intrahepatocellular iron deposition (3+ of 4) as well as moderate steatosis, mild portal
Alicia Ribar, PhD, FNP-BC is a Professor at the University of South Carolina College of Nursing, Columbia, South Carolina, and can be contacted at [email protected].
References (13)
- et al.
Haemochromatosis
Lancet
(2016) - et al.
Mildly elevated liver transaminase levels: causes and evaluation
Am Fam Physician
(2017) - et al.
Recognition and management of hereditary hemochromatosis
Am Fam Physician
(2002) - et al.
A 42-year-old man with elevated ferritin
Can Med Assoc J
(2015) Hereditary Hemochromatosis
Epidemiology and diagnostic testing for hemochromatosis and iron overload
Int J Lab Hematol
(2015)
Cited by (0)
Alicia Ribar, PhD, FNP-BC is a Professor at the University of South Carolina College of Nursing, Columbia, South Carolina, and can be contacted at [email protected].
Laura Herbert, DNP, FNP-BC is an Assistant Professor at the University of South Carolina College of Nursing, Columbia, South Carolina.
Patricia Keane, PhD, FNP-BC is a Professor Emeritus at Otterbein University, Westerville, Ohio.
In compliance with national ethical guidelines, the authors report no relationships with business or industry that would pose a conflict of interest.