Phlebotomy: Study Of A Young Woman Case

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Introduction/Background

Our client is a 25-year-old woman who came to the clinic after setting off a metal detector on a vacation to California. When the client was being checked she thought she was coming down with something and complained about her joint pain. The 25-year-old woman’s hematocrit levels were normal, ferritin levels were greatly elevated, there were elevated levels of bilirubin found in the liver and an ultrasound confirmed there was cirrhosis of the liver.

Iron is in the blood and is involved in metabolic processes. The storage of iron is in the liver and spleen where it is transported by transferrin to the red bone marrow for erythrocyte production. The human body loses about 1 mg of iron from sweat, urine, feces, shredded GI tract cells and skin cells, it is important to note that women tend to lose slightly more iron due to menstruation. Typically, the human body absorbs about 10% of iron from the 10 to 20 mg of daily iron consumed (Duchini, 2017). Iron can form free radicals, which means that the amount in the tissues must be regulated to prevent tissue damage (Abbaspour, Hurrell, Kelishadi, 2014). Iron metabolism disorders are common and could be anything from Anemia to a neurodegenerative disease (Abbaspour, Hurrell, Kelishadi, 2014). Ferritin stores the iron and is essential to iron homeostasis (Knovich, Storey, Coffman, F. M. Torti, S.V. Torti, 2008). It can also be used as an indicator of iron levels in the body as well as iron storage testing for hemochromatosis. Iron is present in many different types of cells depending on the function of iron supply or storage. According to University of California San Francisco Health (2019), iron is key in transporting oxygen in the body. Hemoglobin is important in taking in oxygen from the lungs and in the hemoglobin is where you can find iron, which is held by the protein called heme (McKinley, O’Loughlin, Bidle, 2019).

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Results/Theories

Our client shows signs and symptoms that have been confirmed by tests that point to three diagnoses. The three diagnoses in which the client presents are: Hemochromatosis, Hereditary Aceruloplasminemia, and Dysmetabolic Hyperferritinemia. Hemochromatosis is the most likely diagnosis out of the three and Hereditary Aceruloplasminemia and Dysmetabolic Hyperferritinemia are other possibilities in which the client presents symptoms to and that match her test results.

The young woman’s age, high ferritin levels as well as liver cirrhosis are indicators that juvenile hemochromatosis is affecting her ability to absorb the necessary amount of iron, instead making those levels exceed the normal level and cause symptoms such as joint pain that she is experiencing (Duchini, 2017). Moreover, the elevated levels of bilirubin reinforce the ultrasound observations since there is a deficiency of the enzyme breaking down bilirubin, indicating liver damage or disease. This is still the case in juvenile hemochromatosis as it is a subtype of primary hemochromatosis and it affects the iron intake from food to the liver through the HJV gene instead of the common heme gene HFE (Duchini, 2017), leading to the cirrhosis of the liver as observed in the 25-year-old female’s ultrasound. More importantly the mutated gene causes high amounts of ferritin to be produced for iron storage and transport, which then directly affects the liver and red bone marrow, causing the liver to secrete excessive levels of bilirubin (bile). The young woman’s age, elevated iron and liver cirrhosis indicate that juvenile hemochromatosis may be affecting her body. Usually the symptoms of this subtype appear earlier in male rather than the female populations due to a small differentiation such as menstruation, which helps women exceed their iron levels after absorption.

Hereditary Aceruloplasminemia is a potential diagnosis because aceruloplasminemia is an iron overload in the body and mainly affects the brain stem. According to the National Organization of Rare Diseases (2016), the age range for onset is different but is usually around the 20s and 60s. This rare disorder disrupts the normal function of iron distribution in the body and is caused by the mutated ceruloplasmin. The gene CP is what instructs ceruloplasmin production, ceruloplasmin acts as an enzyme in iron homeostasis and, it converts Fe (II) to Fe (III). An abnormal ceruloplasmin results in excessive iron storage. Iron levels can’t be too low or too high or it will cause tissue damage in the body. Due to the disrupt iron circulation in the body, it affects the liver which is part of the iron cycle. Ferritin levels are increased in our client since there is excessive iron in the body and the role of ferritin is to store iron in the liver. It can make a person tired, weak, and cause muscle pain which relates to our client. It can be diagnosed from an MRI, a blood test, or checking the family history. This disorder can be treated by medication like deferoxamine, an iron chelator (NORD, 2016). This drug allows iron to be filtered out in the kidneys. Moreover, it decreases iron in the brain and liver that could stop the advancement of any neurological problems. Individuals with Aceruloplasminemia can also avoid a high iron diet such as liver, canned fish, chicken, and turkey.

Another diagnosis for our client is Dysmetabolic Hyperferritinemia. This is a possible diagnosis as we know our client has high iron which could be the most likeliness of why she set off the metal detector in the airport. Dysmetabolic Hyperferritinemia is an iron overload disorder in which can cause damage such as cirrhosis to the liver, which our client is suffering from as seen by the ultrasound that indicated the cirrhosis of the liver. Dysmetabolic Hyperferritinemia is also associated with high ferritin levels which our client is also experiencing, and low or normal transferrin saturation which further indicates this diagnosis as a more likely option (Makker, Hanif, Bajantri, Chilimuri, 2015). Although we do not know the client’s transferrin saturation. The transferrin saturation could be taken from the client to open further options. When diagnosing Dysmetabolic Hyperferritinemia, it is important to test the hepcidin levels as they correlate with the ferritin levels in the body and can help with the diagnosis of Dysmetabolic Hyperferritinemia (Makker, Hanif, Bajantri, Chilimuri, 2015). The hepcidin levels correlate to the liver ions that are stored and in the ferritin. A test done with patients who had non-alcoholic fatty liver disease showed that patients with non-alcoholic fatty liver disease dysmetabolic iron overload had an increase in transferrin saturation. This high transferrin saturation was found from the correlation between the hepcidin messenger ribonucleic acid (mRNA) and the serum ferritin (Albiin et al., 2014). Serum ferritin correlates to the iron in the body, which can include serum ferritin and liver ions. Hepcidin regulates iron metabolism and can be used to reduce iron deficiency (Pasricha et al., 2011). Doing a test on hepcidin is a diagnostic test in which can indicate iron deficiency. The amount of hepatic iron is equalled when there is ferritin present. Hepcidin is mostly produced by the liver, although some other cells and tissues do have low levels of this hormone present. Hepcidin also controls the serum levels from combining ferroportin and is the only known iron exporter (Delga et al., 2014).

Discussion

The young woman’s hematocrit level is normal, which leads us to consider the 120-day production/destruction cycle of the red blood cells in the erythropoiesis. We know that there is a connection between the red blood cells and the amount of iron that is being used in the process of oxygen transportation. For instance, if the amount of blood cells would be increased due to ‘blood doping’ or spending extensive amount of time in high altitudes, the amount of iron used would have to be greater than normal in that process. However, the client’s hematocrit level is normal leading to the gradual build up of iron in the red bone marrow and liver due to the HJV gene mutation as the primary cause, as well as an insufficient amount of iron being used in the oxygen transportation. We believe that providing the client with a higher level of red blood cells could decrease the stored amount of iron for a short period of time, which could be an aid in the therapeutic treatment such as phlebotomy. The hypothesized outcome is the sooner recovery of the client towards restoration of iron balance within the body. Balanced iron level is essential towards maintaining equilibrium of ferritin and bilirubin, since the iron storage mechanisms such as the liver and red bone marrow will be less affected. To verify our hypothetical aid for treatment, we would have to consider hemochromatosis tests such as serum ferritin, which measures the iron stored in the liver and serum transferrin saturation test to measure the amount of iron bound to transferrin that carries iron in the blood.

The goal for patients with Hemochromatosis is to decrease the iron amounts in the body before serious damage is made to the body. Most patients are treated with Phlebotomy (Blood Letting). This process removes excess blood from the body system until ferritin and transferrin levels decrease and reduces the amount of iron in the body to a normal storage level. It is initially performed once a week to remove one pint of blood each time (200-250 grams of iron). As iron levels improve the phlebotomy is performed less frequently. The phlebotomies are to be continued until the transferrin saturation level is below 50% and ferritin levels are below 50 ng/mL. When cirrhosis of the liver is existent in its premature stages, then a phlebotomy will control and decrease the development of liver disease. In some cases, the patient may not tolerate phlebotomies due to low blood counts, so the pathway of medication is used instead. The medication deferoxamine is taken orally daily by the patient. This drug binds to free iron in the blood and makes it easier to get rid of the excessive iron through the urine. This form of treatment is very effective and would be used so the iron level in the heart and liver would reduce (Jose, Krishman, Sajeez, Rajesh, 2011).

References

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