Abstract
Abstract
Hemochromatosis is the most prevalent genetic condition in the United States, with one in every nine persons carrying the gene. It is an autosomal recessive condition that affects one out of every 300 Americans (Hopkins Medicine, (n.d.). The objective of this paper is to provide an overview of hereditary hemochromatosis, etiology, epidemiology, pathophysiology, mortality, morbidity, and comorbidities. The methodology used is literature review and analysis of a patient case as it pertains to hereditary hemochromatosis. The research paper concludes with a discussion on treatment alternatives.
Research on Hemochromatosis Condition
Hemochromatosis is a condition in the body that is caused by the overload of iron in the organs. The HFE gene mutations root the condition as they reduce regulations of iron intake in the body triggering imbalances. The organs that store excessive iron in the body are the liver, pancreas, and heart. Most individuals with genetically inherited conditions do not develop serious health issues in their lives. Despite the genetic condition not developing serious problems, continuous iron accumulations in the body could be life-threatening as they could lead to heart problems, damage the liver, or cause diabetes (Mayo Clinic, 2022). The C282Y mutation is found in roughly 1.9 percent of people globally, whereas the H63D mutation is found in about 8.1 percent (Duchini, 2017). Hemochromatosis affects the same number of individuals throughout Europe, Australia, and other Western nations, with Celtic people having the highest frequency. Patients of African heritage are less likely to develop hemochromatosis.
Hereditary hemochromatosis (HH) is an autosomal recessive condition that affects one out of every 300 Americans (Hopkins Medicine, (n.d.)). Hemochromatosis is the most prevalent genetic condition in the United States, with one in every nine persons carrying the gene. Too much intravenous iron or too many blood transfusions can cause an acquired variant of this illness. Individuals found with the condition can be identified later in life during adulthood. In the development of the research paper, there will be an analysis of a man diagnosed and hospitalized with a genetic condition. Additionally, there will be the definition and explanation of Etiology, Epidemiology, Pathophysiology, Mortality, Morbidity, & Co-Morbidity of the Hemochromatosis condition.
Referred Case
The case that would be used in the research paper on hemochromatosis is one involving a man, aged 45 years. According to the case, the man was admitted to the hospital after experiencing three days of severe hematemesis and melenas (Santacoloma, Gutiérrez Londoño, & Limas, 2010). The patient in the case is said to have been treated for six years using insulin and scheduled check-ups. It was known of the patient’s behavior to consume strong alcoholic beverages at a higher rate that led to intoxication. The consumption of the aguardiente was in the past five days before being admitted to the hospital on the sixth day. During the admission of the patient to the hospital, he was pale and in a poor condition. The recorded blood pressure was at 90/60, a heart rate of 96 per minute, temp 97.8 F, O2 sat 94% on room air and a breathing rate of 20 per minute. The condition had affected the patient and the need for immediate medical attention was required.
According to Santacoloma, Gutiérrez Londoño, & Limas (2010), an interrogation done on the patient recorded more about the condition of the patient and its history. From a personal record of the man’s medical record, it was found that he had earlier been hospitalized for alcoholic pancreatitis. This was reported two years earlier. Another possible cause of the condition was found in the patient’s family health records. The records indicated that before the age of 50, his father and paternal uncle had died of cirrhosis. However, the brothers and their sisters did not have any recorded health issues. The information helped search for the background information about the condition. It could help in identifying how to genetically deal with the condition. Medication with crystalloid was prescribed for the patient, and in addition, three units of red blood cells were transfused to the patient. The patient’s hemodynamic stability was achieved by the infusions of Omeprazole.
Etiology, Epidemiology, Pathophysiology, Mortality, Morbidity, & Co-Morbidity
Hemochromatosis is said to be a condition that causes excessive accumulation of iron in the body later causing the affected individuals’ organ dysfunction (Porter & Rawla, 2021). High pathologic iron levels being accumulated in the body causing hemochromatosis can also be described as bronze diabetes. According to Porter & Rawla (2021), in hereditary hemochromatosis, retained iron is predominantly accumulated in parenchymal cells, whereas in transfusion hemochromatosis, it is largely deposited in reticuloendothelial cells. Deposited excess iron in the body cells is in form of hemosiderin. In homozygotes, there is the occurrence of Hereditary hemochromatosis with a hemochromatosis gene (HFE) protein mutation.
HFE gene (chromosome 6) mutation influences the absorption of surplus iron. HFE gene’s most common mutations are C282Y and H63D (Porter & Rawla, 2021). Hereditary hemochromatosis can be grouped into major four types that include HFE-related (type 1), hemojuvelin gene mutations & hepcidin gene mutations (types 2a & 2b), transferrin receptor-2 gene mutations (type 3), and the ferroportin gene (type 4). The onset of the conditions is for type 2s being at 15-20 years, type 3 at 30-40 years, and type 4 at 10-80 years.
According to the epidemiology of hemochromatosis, the autosomal recessive disorder is common in Caucasian where the rates are recorded at 1 person out of 300-500 individuals (Adams, 2015). Worldwide, the common hemochromatosis types of the disorder are types 2,3, & 4, but type 1, is identified in northern Europeans. In the statistical presentation of the condition, it is less prevalent to African Americans with a rate of Caucasian being six times more. For men versus women with the condition, men are said to be 2-3 times more affected than women. The symptoms in men appear earlier than in women at the age of 50 while women can be found with the condition at 60 years. The reason behind the rates being different in both genders is because, in women, there is often excretion of the surplus iron in cells through biological events such as the menstruation cycle in female individuals.
According to the pathophysiology of hemochromatosis, the organs affected are the liver, pancreas, heart, thyroid, joints, skin, gonads, and pituitary (Golfeyz, Lewis, & Weisberg, 2018). Concerning the liver and pancreatic toxicity in the body, the acceleration of hemochromatosis pathogens is associated with the consumption of excess alcohol. Hemochromatosis patients with Cirrhosis range to about 70% of those diagnosed, where hepatocellular carcinoma increase incidents cause their deaths. In heterozygotes for hereditary hemochromatosis, the risks increased by about 50% for diabetic patients. Other effects of the condition include joint pains, cardiac problems, hypogonadism, and hyperpigmentation of the skin (Golfeyz, Lewis, & Weisberg, 2018). Erythropoietic hemochromatosis is the cause of secondary hemochromatosis. The condition in patients can be caused by the influences by increased production of red blood cells causing the excessive absorption of iron in the body. Beer that is prepared in steel drums will have high volumes of iron. Additionally, it could be caused by the transfusion of blood that has excess iron in it or with blood containing iron deficiency causing excessive absorption and consumption of iron.
The mortality rates of hemochromatosis are relatively lower as the condition is found to have a rate of around 1.7 per 10,000 individuals (Duchini, 2017). The rates are higher according to the rates of autopsies leading to 3.2 deaths out of 10,000. The mortality rate for individuals over the age of 50 years and infants is also higher. In comparison to gender, the mortality rates of men are higher than women. Black individuals and other groups are also found to have a higher mortality rate than whites. Additionally, individuals who are not diagnosed with the condition at an early stage could be affected later in their lives. Hemochromatosis condition worsens and causes severe damages to the human organs if not treated. The effects from the damaged body organs could lead to more serious health conditions or cause death. To medically support individuals with the condition would save their lives and lead to a healthy life.
In research conducted between 1959 and 1983, there was a reflection of the cause of death and the survival rates of 163 patients diagnosed with hemochromatosis. According to Strohmeyer, Niederau, & Stremmel (1988), the survival rates of individuals with hemochromatosis and other diseases were lower compared to those without other conditions. The results from the research found out that there was a higher rate of deaths among individuals with other conditions such as liver cirrhosis and diabetes. The increased rates were due to the accumulative irons in the bodies of these patients causing health defects that led them to quicker deaths. In the venesection therapies conducted on the patients, those that depleted the iron in their bodies in the first 18 months of the prognosis had a higher chance of survival than those who did not deplete iron levels within 18 months. For the first 10 years, the cumulative rates of survival were at 76% and the numbers reduced to 46% for 20 years. This could be interpreted by the understanding that those who did not deplete the iron levels had higher mortality rates.
Comorbidity being the simultaneous presence of two or more medical conditions could be a risk to a patient (Ann Fam Med, 2009). Comorbidity being risky is associated with death risks and higher healthcare costs to patients with hemochromatosis conditions (Valderas, Starfield, Sibbald, Salisbury, & Roland, 2009). Coexisting conditions cause the patients to become weak and their conditions could affect their lifestyles. Being an individual having these conditions would complicate the treatment procedures for both hemochromatosis and the coexisting diseases. The number of individuals diagnosed with hemochromatosis increases whenever they are tested to have other conditions such as cirrhosis or diabetes (Bacon & Kwiatkowski, 2021). From the tests done, most of the patients recorded with the condition are said to be informed of the mutations developing without their knowledge. This could be caused by the patients having a gene responsible for the control of iron absorption leading to excessive absorption leading to iron overload. The overloads cause the defects and resulting healthcare diagnosis on the caused organ malfunctions could lead to the identification of hemochromatosis conditions.
According to Bacon and Kwiatkowski (2019), typical clinic findings for the overload of iron in the body could be due to family hereditary causes, blood transfusion for anemic individuals, unrecognized organ damages, and even increased transferrin saturation (TSAT). The clinical evaluation of iron accumulation could be done using differential diagnosis and the tests done by application of post-diagnostic tests to the patients. Baas, Rishi, Swinkels, & Subramaniam (2021), identified genetic diagnosis of hereditary hemochromatosis as an effective scientific discovery. The discovery is found to have positive results in the analysis of the biological conditions by identifying the genetic variants of the hereditary condition and improving the lifespans of patients by offering guidance and treating their coexisting conditions.
The treatment of hereditary hemochromatosis can be through mechanisms applicable to help in the control of iron absorption in the body (Kawabata, 2018). Genetic diagnosis needs to be done early to avoid the chances of more challenges such as irreversible organ damages. Since it would be challenging to conduct a genetic diagnosis to all patients, it would be recommended for those with family members diagnosed to have the hereditary condition. Therefore, awareness of the condition is crucial in preventing its advancements and saving the lives of those diagnosed with the condition.
References
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