Question 1

What type of inheritance is hereditary hemochromatosis?&#10;A) Autosomal recessive&#10;B) Autosomal dominant&#10;C) X-linked recessive&#10;D) X-linked dominant

Accepted Answer

Hereditary hemochromatosis (type 1 HH) is an autosomal recessive disorder that is most commonly caused by a single mutation in the HFE gene.

Question 2

Clinical evidence of HH presents at what age?&#10;A) Younger than 10&#10;B) Present at birth&#10;C) 20s&#10;D) 40 or older

Accepted Answer

Because persons with HH absorb excess iron over a period of years, clinical evidence of disease does not typically present until the affected individual is 40 years of age or older. The average body stores approximately 4 grams of total iron in various forms.

Question 3

Which of the following is not a permanent manifestation of HH?&#10;A) Arthritis&#10;B) Cardiomyopathy&#10;C) Diabetes mellitus&#10;D) Hypothyroidism

Accepted Answer

Unless severe, cardiomyopathy is a reversible manifestation. Arthritis, Diabetes Mellitus and Hyperthyroidism are all permanent manifestations of HH.

Question 4

The amount of stored iron in the body is estimated by&#10;A) Serum ferritin levels&#10;B) Serum iron levels&#10;C) Total iron binding capacity&#10;D) Transferrin saturation levels

Accepted Answer

Serum iron identifies the amount of free iron that was recently absorbed from the diet, but before it has become bound to transferrin. Normal serum iron levels are often detected in HH due to storage of the majority of iron in other forms. The amount of stored iron in the body is estimated by the serum level of ferritin, the protein that stores iron. The TIBC is a measure of all proteins that are available to bind iron. It indirectly measures the amount of transferrin present, whereas transferrin saturation represents the portion of transferrin bound to iron.

Question 5

Which lab values are correct for HH?&#10;A) Serum iron normal- increased, serum ferritin increased&#10;B) TIBC normal- increased, serum ferritin increased&#10;C) Serum iron decreased, serum ferritin decreased&#10;D) TIBC normal - decreased, serum transferrin saturation increased

Accepted Answer

Serum ferritin levels increase progressively over time in individuals with HH. Elevated serum ferritin levels are sensitive predictors of disease, but are not specific to HH because any inflammatory process may elevate serum ferritin. Thus, this bio-marker is referred to as an acute-phase reactant. Serum ferritin tends to increase or decrease in the same direction as iron stores and provides a rough estimate of total body iron. When both transferrin saturation and serum ferritin are elevated, these findings have a higher combined sensitivity and specificity in supporting the diagnosis of HH than using either value alone.

Question 6

Consumption of excessive amounts of which vitamin should be avoided in HH?&#10;A) C&#10;B) A&#10;C) B12&#10;D) D

Accepted Answer

Consumption of excessive amounts of vitamin C should also be avoided-this water-soluble vitamin increases absorption of dietary iron.

Question 7

What is the treatment of choice for HH in symptomatic as well as asymptomatic patients?&#10;A) Chelation&#10;B) Therapeutic phlebotomy&#10;C) Diet modification&#10;D) Liver transplant

Accepted Answer

Therapeutic phlebotomy, which involves the removal of a portion of the affected individual's blood, is the treatment of choice for iron overload in symptomatic patients, as well as asymptomatic patients with a serum ferritin greater than 1000 μg/L or an elevated fasting transferrin saturation. This intervention is a simple, effective and inexpensive method to reduce the iron burden in patients with HH. Chelating agents are drugs that bind to iron and prevent its use or deposition in the body. These are rarely needed in patients with HH due to the efficacy of phlebotomy, but may be considered in special cases. Liver transplant is the only treatment for HH patients with end-stage liver disease. Historically, post-transplant survival in this patient population has been poor, but this has greatly improved in recent years. Dietary management should involve avoidance of iron-containing supplements and limited intake of foods that are high in iron, such as red meat. Consumption of excessive amounts of vitamin C should also be avoided-this water-soluble vitamin increases absorption of dietary iron. Patients with impaired hepatic function should avoid drinking alcohol because iron and alcohol have synergistic hepatotoxic effects.

Question 8

Which of the following is not a frequently presenting symptom of HH?&#10;A) Abdominal pain&#10;B) Hyperpigmented skin&#10;C) Fatigue&#10;D) Arthralgias

Accepted Answer

Hemochromatosis frequently presents with nonspecific symptoms such as abdominal pain, fatigue, and arthralgias. Factors that may raise clinical suspicion for advanced-stage iron overload include hepatomegaly, hepatic cirrhosis, hepatocellular carcinoma, diabetes mellitus, cardiomyopathy, hypogonadism, arthritis, and hyperpigmented skin.

Question 9

Who is more likely to manifest symptoms of HH?&#10;A) Men&#10;B) Women&#10;C) Equal chance of manifesting symptoms&#10;D) Homosexuals

Accepted Answer

Phenotypic expression of HH is found in both men and women, but is clinically expressed at a much greater frequency in men. The lower incidence of clinical expression in women is attributed to regular iron loss through the blood loss associated with menstruation.

Question 10

Diagnosis is made by:&#10;A) HFE gene testing&#10;B) Liver biopsy&#10;C) Whole blood genetic testing&#10;D) Skin biopsy

Accepted Answer

The wide availability of HFE gene testing has largely eliminated the need for liver biopsy. It identifies the C282Y and H63D mutations, and can determine if an individual is homozygous, heterozygous, or has normal HFE alleles. This testing is performed by polymerase chain reaction (PCR) using a whole blood sample, which makes it relatively affordable compared to other genetic tests. This technique is very useful for screening family members of an affected person

Deck 12: Hemochromatosis