Hemochromatosis: Diagnostic and Treatment Case Study

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Abstract

This is an infection that causes rusty discoloration of the liver due to excess absorption of iron (Hash 266). This disease is said to be hereditary and hence can be passed on from parents to offspring. Moreover, it can be classified into numerous domains such as neonatal, juvenile, primary and secondary hemochromatosis (Capell 101). This disease is caused by mutation of a gene that is responsible in regulating the amount of iron absorbed from the diet (Hash 266).

This could be the possible factor that makes the disease to be genetic. An individual who is suffering from disorder related to the regulation of iron is said to have a medical condition called hemochromatosis. This disease causes the deposition of excess and freely available iron on the liver and other important organs. The deposition of iron particularly on the liver is a major problem as an individual’s body is unable to break it down and eventually eliminate its chemical components. Consequently, iron accumulates leading to its overload in the body.

Etiology of the lesion

Notably, increased intake of iron from food eaten leads to the accumulation of the mineral in liver. The long term accumulation is known to be the major cause of this liver disease (Capell 101).in addition, the rusty lesion in the liver is mainly caused by the damaging effect of excess iron. In this case, excessive intake and subsequent accumulation of iron detoxify the cells in the liver which eventually lose vigor and die off.

Some research studies have also noted that hemochromatosis is a condition which is passed down from one person to another in a family line. It is an inherited condition and most prevalent among men. It is also imperative to note that the carriers of the gene bearing the disease can pass it to their children.

Apart from inheritance, the disease also has secondary causes which encompass predisposing factors like post-portocaval shunting, prolonged haemodialysis, porphyria cutanea tarda, steatohepatitis and cirrhosis. Other secondary causes include, iron poisoning, frequent blood transfusions and chronic haemolysis.

Macroscopic and microscopic findings

Macroscopic findings are results that are derived from basic checkup of a specimen (Hash 267). In this case, the latter involves observable findings or signs that can be used to predict that an individual is suffering from hemochromatosis. Macroscopic findings provide one with diagnosis of broad signs such as fatigue, joint pains and low libido (Hash 267).

In addition to this, macroscopic findings can involve skin discolorations whereby the skin appears dark due to excessive accumulation of iron in the blood. Nevertheless, since the signs and symptoms of the disease are closely related with those of other ailments such as arthritis, there is need to come up with microscopic findings (Hash 269).

In this case, these are fine evidences that doctors use to diagnose the disease. For example, this might involve use of x-ray to detect lesions in the liver and other delicate organs such as kidney and pancreases (Hash 269). Besides, one can conduct a medical biopsy of the liver to detect traces of rusty discoloration or presence of lesions in the tissue.

The liver of an individual suffering from hemochromatosis appears bile stained and generally shrunken with nodular regeneration and extensive fibrosis. The liver, though showing massive loss of hepatocytes, exhibits cells which appear to have taken a pseudo glandular transformation and reveal cholestasis of varying degrees. It is worth mentioning that iron disposition in hepatocytes also make the liver to have inflammations.

Symptoms, signs and laboratory findings caused by the lesion

From a careful review of literature, it is apparent that the signs and symptoms of hemochromatosis emerge in its middle life (Capell 101). Nevertheless, this is not always the case since they can even appear an earlier stage. Common signs and symptoms include joint pains, abdominal pains, fatigue and impotence (Capell 102).

To diagnose the condition, blood samples are used to conduct a HFE gene analysis to determine a C282Y mutation. It is imperative to note that the infection can also be identified in terms of melanin disposition which causes an individual’s skin to have bronze colouration. Patients with this condition may experience loss of sex drive, pains along some parts of the body, raised liver enzymes, swollen liver, abdominal discomfort, boredom and persistent lack of physical energy. In a case whereby there is a gross iron overload, an individual may present symptoms of diabetes mellitus and a dysfunctional liver.

Treatment and prognosis

One of the common treatments and prognosis involves of hemochromatosis involves the removal of blood from an individual body to lower the iron level (Capell 102). Studies have shown that doctors remove blood frequently even though this procedure depends on age and an individual’s health status.

The process of removing the patient’s blood regularly is referred to as phlebotomy (Capell 102). Alternatively, doctors can also use some medications that are administered in form of pills or injections to reduce the amount of iron retained in the blood. That notwithstanding, it is also possible to also use kelating agent or administer hormones that will help in regulating intake of iron into blood cells (Hash 272).

In line with this, Cunningham (593) argues that patients should be advised to limit iron intake in their diet. The treatment of hemochromatosis also involves the use of antioxidants to put out and mop up the actions of free radicals. Besides, patients can be offered therapeutic supplements and advised to eat fresh vegetables and fruits. The treatment of this condition aims at protecting cells and as such, requires a proper diet full of vitamins and minerals.

Relevance to dental practice

It is profound to note that research has revealed that heart diseases have numerous effects to patients who receive dental care. In this case, any form of dental practice should bear in mind and also understand the health status of patients especially those who are suffering from this liver disorder. This is relevant in helping a medical expert in making appropriate prescription to the patient (Capell 102). Needless to say, dentists need to understand the oral symptoms associated with hemochromatosis such as fatigue.

This will make it easy to identify effective measures that can be taken before, during and after the process of treatment. Developing an understanding of hemochromatosis, its causes, effects and treatment are critical in dental practice as it sets a basis for a keen understanding of a health issues for effective management. Besides, dental practice is highly likely to benefit from the knowledge obtained in the study of hemochromatosis bearing in mind that iron is equally critical in the formation of strong teeth.

Works Cited

Capell, Peter. “Case Study: Hemochromatosis in Type 2 Diabetes.” Clinical Diabetes, 22.2 (2004): 101-102. Print.

Cunningham, Eleese.”Is there a role for diet in the treatment of hemochromatosis?” Journal of the American Dietetic Association, 103.5 (2003): 593-598. Print.

Hash, Robert. “Hereditary hemochromatosis.” Journal of American Board Family Practice, 14.1(2001):266-273. Print.

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