Hemochromatosis - High Yield Topic Series

The statement is true because C282Y and H63D are indeed two known gene mutations in Hemochromatosis. These mutations are associated with an increased absorption of iron from the diet, leading to excessive iron accumulation in the body. Hemochromatosis is a genetic disorder characterized by iron overload, which can cause damage to various organs if left untreated.

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The main treatment of choice for the given condition is phlebotomy. Phlebotomy involves the removal of blood from the body as a therapeutic procedure. In certain conditions, such as iron overload disorders like hemochromatosis, removing excess iron from the body through phlebotomy can be an effective treatment. It helps to reduce iron levels and prevent complications associated with iron overload. Deferoxamine, BAL, and dialysis are not the main treatments of choice for this condition.

The correct answer is true. Hemochromatosis is a condition characterized by iron overload in the body. The excess iron can lead to dysfunction of various organs, including the hypothalamus and pituitary gland. These structures play a crucial role in regulating hormone production, including sex hormones. Dysfunction of the hypothalamo-pituitary axis can disrupt the normal balance of hormones involved in sexual function, leading to a loss of libido. Therefore, it is true that loss of libido in hemochromatosis is due to dysfunction of the hypothalamo-pituitary axis.

The statement is true because the human body does not have a natural mechanism to eliminate excess iron. Iron metabolism is mainly regulated through the absorption of iron in the body. When there is an excess of iron, it can accumulate in organs and tissues, leading to conditions like iron overload or hemochromatosis. Therefore, it is important to maintain a balance in iron levels through proper dietary intake and medical interventions.

Hemochromatosis is inherited in an autosomal recessive (AR) pattern. This means that an individual must inherit two copies of the mutated gene, one from each parent, in order to develop the condition. If only one copy of the mutated gene is inherited, the individual is considered a carrier and does not typically show symptoms of the disorder. This pattern of inheritance suggests that both males and females are equally likely to be affected by hemochromatosis.

In patients with Hemochromatosis, there is an excessive accumulation of iron in the body, leading to iron overload. Hypoalbuminemia refers to low levels of albumin in the blood. Deferoxamine is the treatment of choice in this case because it is an iron-chelating agent that helps remove excess iron from the body. Phlebotomy, which involves the removal of blood, can also be used to reduce iron levels, but Deferoxamine is preferred in this scenario due to the presence of Hypoalbuminemia. BAL (British anti-Lewisite) and dialysis are not typically used for the treatment of Hemochromatosis.

Untreated patient won't survive long to die of malignancy.

An increased transferrin saturation level of more than 45% indicates an early phenotypic marker or lab finding. Transferrin saturation measures the percentage of iron-binding sites on transferrin that are occupied by iron. A high transferrin saturation suggests an excess of iron in the body, which can be a sign of conditions such as hereditary hemochromatosis or iron overload. This marker is considered early because it can be detected before other markers such as increased serum ferritin or elevated RDW levels.

The mutation here is sporadic.

The statement "Most of the mutations are sporadic" is false. Sporadic mutations refer to genetic changes that occur randomly and are not inherited from parents. However, most mutations are not sporadic but rather inherited from one or both parents. Inherited mutations can be passed down through generations and are responsible for various genetic disorders. Therefore, the correct answer is "Most of the mutations are sporadic."

Hepatoma, or hepatocellular carcinoma, is a type of liver cancer that can be fatal if not treated. It is a common cause of death in patients who have received treatment for this condition. CHF (congestive heart failure) and infection can also be causes of death in treated patients, but hepatoma is specifically mentioned as the most common cause in this question.