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This chapter focuses on hematology and the diseases handled by internal medicine specialists. The main disorders discussed are bleeding disorders, bone marrow disorders, and anemia management. Bleeding disorders can be congenital or acquired, with von Willebrand disease and hemophilia being the most common hereditary bleeding disorders. Hemophilia A and B are caused by deficiencies in clotting factors VIII and IX, respectively. Hemophilia can lead to spontaneous bleeding and joint damage. Von Willebrand disease is caused by a defective gene that affects von Willebrand factor, leading to bleeding complications. There are different types of von Willebrand disease, with varying levels of severity. Diagnosis is typically based on clotting factor levels and bleeding time tests. Treatment for both hemophilia and von Willebrand disease involves replacing the missing clotting factors. Chapter 6, Hematology. This chapter deals with the diseases best handled by an internal medicine specialist who deals with the care of patients with blood disorders. Three of the more common disorders a hematologist deals with include bleeding disorders, bone marrow disorders, and the management of patients with anemia. These will all be addressed in this section. Management of the Bleeding Disorder Patient. Patients with bleeding disorders can have various aspects of their clotting process inhibited by disease. Some patients can have congenital bleeding disorders from a lack of clotting factors. There are several different kinds of clotting disorders, but most of them are exceedingly rare. Other people have normal clotting factors, but have low platelet counts or other abnormalities of the clotting process that makes them prone to bleeding. Bleeding disorders can be severe and obvious to recognize. Some children with severe bleeding disorders have bleeding complications from birth and are identified early in life. Other times, the bleeding disorder is mild and is only identified when the patient has a major traumatic injury. Women can be identified as having a bleeding disorder when they have heavy menstrual periods or fail to stop bleeding after giving birth. While patients can develop clotting disorders secondary to an infection or immune process, this chapter is devoted primarily to hereditary clotting disorders. Hereditary clotting disorders can be inherited in ways that make it obvious to identify a person who can't coagulate their blood. Other bleeding disorders are hereditary, but the pattern of heredity is not easily determined, so the clotting problem comes up unexpectedly in a child or adult who doesn't suspect they are at risk for bleeding complications. The two most common hereditary bleeding disorders are von Willebrand disease, or VWD, and hemophilia. The most common hereditary bleeding disorder is von Willebrand disease. It can happen to males and females alike and is caused by blood clotting deficiencies that make it difficult to clot blood. It is not easily detected in childhood and can show up when a person fails to clot after a traumatic event or when a woman is evaluated for heavy periods or postpartum hemorrhage. Hemophilia is less common but is usually identified early in life. It is an X-linked hereditary disorder that is very serious when boys are born with it. Girls can be born normally or can be carriers of the disease. Even though they don't have full-blown hemophilia, they do have impaired clotting ability and have heavy menstrual bleeding, easy bruisability, and problems with excessive bleeding after surgery or dental work. People with hereditary bleeding disorders tend to bruise easily and have frequent nose bleeds. Boys with hemophilia will have bleeding into their joints without evidence of trauma, while patients mildly affected with a hereditary bleeding disorder are only identified when they have trouble with nose bleeds, heavy vaginal bleeding, or bleeding after a traumatic event. Hemophilia Hemophilia represents a group of clotting disorders caused specifically by lack of a clotting factor because the individual possesses an abnormal gene that results in an inability to make a specific clotting factor. The two most common hemophilia conditions are hemophilia A and hemophilia B. Both are X-linked recessive disorders in which a female can be a carrier of the disease while a male has full-blown disease and a serious problem with bleeding. Hemophilia A happens in one out of every 5,000 male births. It is the most common form of hemophilia and is about four times as common as hemophilia B. Both disorders are caused by genetic mutations that lead to the formation of a defective clotting protein. There are about 13 different clotting proteins that are necessary for the process of clotting to occur. If any one of the clotting proteins is defective, the clotting process doesn't happen. Hemophilia A involves a deficiency of factor VIII while hemophilia B involves a deficiency of factor IX. Hemophilia B is also known as Christmas disease. As mentioned, hemophilia A is much more common than hemophilia B. There is a rare type of hemophilia B called the Leiden phenotype which results in severe bleeding in males that gets better by the time the child reaches puberty. When a child is severely affected with either kind of hemophilia, bleeding can occur without any trauma. Female carriers of the disease don't have hemophilia but have an increased tendency to bleed with menstrual periods or with surgical procedures. Boys with the disease are identified prior to the age of two and often are identified at birth when they fail to stop bleeding after a circumcision. These boys tend to bleed with any injury and can have spontaneous bleeding into their joints with normal activity. They commonly have bleeding in the knees or ankles which eventually destroys the joint space leading to arthritis and the need for joint replacement. Bleeding into the muscles can occur spontaneously leading to large blood clots in the muscles and compartment syndrome. Nose bleeds occur spontaneously and dental procedures are complicated by excessive bleeding. Spontaneous bleeding into the gastrointestinal tract causes black stools or frank blood in the stools. Blood in the urine can occur, as can bleeding in the brain without evidence of trauma. Mild cases aren't identified until they bleed after surgery or trauma. The majority of hemophilia sufferers are detected early in life because there is a strong clinical suspicion of bleeding with a known family history of the disease. A third of cases are secondary to spontaneous mutations and there is no family history of the disease. The disease is diagnosed by measuring the amount of the various clotting factors found in the blood clotting cascade. Patients with hemophilia A and B have a normal number of platelets, a normal prothrombin time and an abnormal partial thromboplastin time because of clotting factor deficiencies. Genetic testing can also be done to identify the specific mutation, but this is rarely necessary when the family history is positive. Males will want to know if they are carriers of the disease if it runs in their family and if they don't have a father with hemophilia. If their father has hemophilia, they are automatically going to be carriers of the disease. Women who give birth to a boy with hemophilia are also automatically carriers of the disease. Women who don't know if they are carriers can have their clotting factors measured or can have genetic testing to see if they are carriers. Some potential parents will have chorionic villus sampling to see if they are carrying a male child with hemophilia and will have a voluntary termination of their pregnancy if they are carrying a son with the disease. Others will continue the pregnancy but will have early management of the disease in their affected male children. The main treatment for hemophilia is the replacement of the missing clotting factors. Inner blood is specially prepared to isolate and concentrate the clotting factors or clotting factors are artificially manufactured in the laboratory. Boys with the disease will regularly receive clotting factors or will receive them when they have a bleeding episode. Children with mild hemophilia A can be treated with DDAVP or Desmopressin that stimulates clot formation. DDAVP can be given intravenously or via a nasal spray. Because hemophilia can cause painful bleeding, patients often receive regular pain medications. Some hemophiliacs develop antibodies to clotting factors that make it difficult to treat the disease. Antibodies to factor VIII are the most common and destroy the concentrate before the factor can be helpful in the clotting process. Boys can receive immunosuppression to block their immune response to factor concentrates and will be able to receive treatment for their bleeding disorder. Von Willebrand disease Von Willebrand disease is the most common hereditary bleeding disorder. It is caused by a defective gene that makes von Willebrand factor which is a clotting protein. Von Willebrand factor normally binds to factor VIII in the blood clotting cascade and when the factor is missing or defective, bleeding complications can occur. Up to 1% of the population is affected by the disease which is inherited in both men and women and is caused by a gene mutation on chromosome 12. The major symptoms of von Willebrand disease are spontaneous nosebleeds, bleeding after dental or surgical procedures, heavy menstrual bleeding, easy bruising, and bleeding after childbirth. There are three hereditary types of von Willebrand disease and one type of the disease that is acquired rather than hereditary. Type 1 von Willebrand disease is the most common. There is a quantitative deficiency of von Willebrand factor in patients who have only about 20 to 50% of the normal amount of the protein. Because these patients have some of the protein, they have mild symptoms. Type 2 von Willebrand disease is less common. People with this disorder have von Willebrand factor, but the protein is malformed. They have some functionality of the protein, so when they bleed, they have an impaired but not absent ability to clot. They have mild to moderate disease. Type 3 von Willebrand disease has an extreme deficit of von Willebrand factor, so they have severe symptoms that include spontaneous bleeding into their muscles and joints. They tend to be diagnosed earlier in life because of the severity of their symptoms. Many patients with von Willebrand disease know early on in life that they may have the disorder because it runs in their families. A few people don't recognize a family inheritance. Patients suspected of the disease can have their bleeding time measured to see if they have a clotting problem. If the bleeding test is abnormal, levels of von Willebrand factor can be measured to see what type of bleeding disorder they have. Further testing can identify the type of disease they have. The treatment for von Willebrand disease depends on how severe the symptoms are. Many sufferers can receive DDAVP or Desmopressin through a nasal spray that stimulates the release of von Willebrand factor from the cells, so they clot better. Patients on this drug have a tendency to retain water, so they need to be on fluid restrictions. Some patients have severe disease, so they need to receive clotting factor concentrate. These are given intravenously. Clotting factor concentrate used to come solely by means of donor blood. However, a recombinant form of von Willebrand factor was created in a laboratory, so patients can receive replacement factor without risk of blood-borne diseases. It can be given only to adults with the disease. Another treatment for the disorder is giving aminocoproic acid and tranexamic acid. These are antifibrinolytic agents that prevent the breakdown of blood clots. These agents are given to patients with von Willebrand disease prior to surgery or dental procedures. They are given to treat active nosebleeds and to women who have heavy vaginal bleeding. They don't enhance clot formation, but impair the breakdown of clots that have already been formed. Patients with von Willebrand disease usually have a limited ability to clot, so they only need something to keep their blood clots from breaking down. Management of Patients with Bone Marrow Disorders. There are a number of conditions that can result in bone marrow disorders. When the bone marrow fails, cells of the red blood cell line aren't made in adequate amounts, platelets aren't made, and white blood cells aren't made. This can have disastrous complications for patients on multiple levels. When the bone marrow overproduces a cell line, it can block the development of the other cell lines, so there are too many white blood cells, too many platelets, or too many red blood cells with deficiencies of the other cell lines. Bone marrow disorders can be subtle and will cause only mild symptoms at first, while other bone marrow disorders come on suddenly with life-threatening consequences. Occasionally, bone marrow disorders are diagnosed incidentally by the finding of an abnormal red blood cell count, an abnormal white blood cell count, or an abnormal platelet count. In other situations, the bone marrow fails significantly and there are obvious symptoms. Bone marrow disorders can be non-cancerous and can simply be the overproduction of a certain cell line. Patients with polycythemia vera make too many red blood cells, while patients with essential thrombocythemia make too many platelets. Patients can make cancerous cells that overproduce and crowd out normal bone marrow function. This is the case in leukemia and myelodysplastic diseases. In other cases, the fibrous tissue network in the bone marrow proliferates, compressing the blood-making part of the bone marrow, resulting in abnormal cells being made or low numbers of normal cells being made. This is known as myelofibrosis. The bone marrow can fail completely, so it won't make one or more of the normal cell lines, such as is seen in aplastic anemia. In other cases, low amounts of essential nutrients such as vitamin B12 or iron can be found, which decrease the bone marrow's ability to make normal cells, so abnormally large red blood cells are made or abnormally small red blood cells are made. Overproduction of white blood cells can result in lymphomas or multiple myeloma. Infections of the bone marrow can cause failure of the bone marrow and cancers can spread to bone marrow, causing secondary bone marrow failure. One of the most common bone marrow disorders is leukemia. This is a cancer of white blood cells in which the bone marrow makes too many of one line of white blood cells, which crowds out the making of normal cells. While large amounts of the cancerous cell line are produced, the cells don't function correctly and there is immune dysfunction leading to infectious complications. Lack of red blood cell production leads to anemia and lack of platelet production leads to bleeding complications. The spleen, liver, and lymph nodes become clogged with abnormal white blood cells. Myeloproliferative disorders of the bone marrow involve the overproduction of any one of the cell types to the exclusion of the other cell types. The cells that are made are immature and don't function the way they are supposed to. Symptoms are related to having too much of one cell type and a deficiency of other cell types. The three main types of myeloproliferative disorders include chronic myeloid leukemia, in which there are too many immature neutrophils and not enough of other blood cell types. Polycythemia vera involves the overgrowth of red blood cells with crowding out of other cell lines. Essential thrombocythemia involves an overgrowth of platelets with crowding out of other cell lines. Myelodysplastic syndrome is a group of diseases that involve abnormalities of bone marrow production. It may appear that the bone marrow is hyperactive, but it is instead making a large number of immature cells and not enough healthy mature cells. This can lead to anemia, lack of healthy white blood cells, or a lack of healthy platelets. Patients will have difficult-to-treat anemias, low white blood cell counts, and low platelet counts that don't respond to traditional therapies. Cells can appear abnormal in at least one cell line, and there can be increases in immature cells in the bone marrow and an increased risk of the immature cells becoming cancerous. Patients with myelodysplastic syndrome have an increased risk of developing acute myelogenous leukemia. Aplastic anemia is a type of bone marrow deficiency in which there is a defect in the stem cell line that produces red blood cells. This can happen because of radiation exposure to the bone marrow or toxic exposure that damages the bone marrow. There can be genetic abnormalities like Fanconi's anemia or viral infections that damage the red blood cell precursor cells so red blood cells aren't made. Occasionally, a lack of erythropoietin from damaged kidneys can cause bone marrow failure in the red blood cell line while having an intact ability to make platelets and white blood cells. Infections, toxins, cancer, and certain drugs can adversely impact bone marrow function, leading to secondary anemia. Another bone marrow disease involves the making of plasma cells. This includes patients with multiple myeloma. The bone marrow overproduces one cell line of mature B lymphocytes, which are the cells that make antibodies. The overproduction of B lymphocytes crowds out the ability to make other cell lines, so there is a lack of platelets and a lack of red blood cells. All other bone marrow disorders arise not from an abnormality of the bone marrow, but from cancer arising in another body area that metastasizes to bone. This causes crowding out of the normal bone marrow, so that cells of all cell lines normally made in the bone marrow are unable to be made. Patients with complete bone marrow failure do not make cells from any cell line. They do not have enough red blood cells and so they become anemic. They do not have enough white blood cells, so they develop infectious complications. They do not have enough platelets, so they develop bleeding complications. The severe anemia can lead to extreme fatigue and an inability to meet the oxygen demands of the body because there aren't enough red blood cells circulating. This can lead to myocardial ischemia and heart failure. Patients can be temporarily treated with red blood cell transfusions, platelet transfusions and medications to build white blood cell counts. The best treatment for bone marrow failure is to receive a bone marrow transplant. Candidates for a bone marrow transplant must be under the age of 55 with severe bone marrow failure and a known related donor who is matched as far as HLA typing to minimize rejection. If the patient with bone marrow failure received a transplant, they have up to a 75% survival rate. Patients who are matched with a donor that is unrelated to them have only a 20% survival rate. Those patients who have an inherited form of bone marrow failure with a matched related donor can receive a hematopoietic stem cell transplant, which involves giving bone marrow stem cells. Patients are given chemotherapy and radiation to destroy any abnormal bone marrow cells and then receive stem cells that travel to bone marrow and create new cell lines of healthy cells. Patients with bone marrow failure resulting in neutropenia have a serious infectious disease risk and need emergency treatment. They must be urgently treated with antibiotic therapy that can provide them with antibiotic coverage that is so good it can compensate for their own lack of ability to fight off infections. These patients run a high risk of infectious complications, such as septicemia and multiple end organ failure. These patients also run the risk of sepsis from fungal organisms. They need antifungal medications that can compensate for their inability to fight off fungal organisms. Patients with a lack of all cell lines can receive antithymocyte globulin or antilymphocyte globulin but have only a 50% survival rate if they don't receive a bone marrow transplant. They need corticosteroid therapy alongside their globulin therapy to prevent serum sickness disease. Patients who do not receive a bone marrow transplant for bone marrow failure can receive hematopoietic growth factors and white blood cell stimulating factor that can improve their body's ability to make red blood cells and white blood cells. Aminocorporeic acid can be given to patients with bone marrow failure that have clotting problems. This is usually only a temporary measure and does not correct the complications of severe thrombocytopenia and bleeding issues that stem from an inability to make enough platelets. Patients can receive packed red blood cells to keep up their red blood cell count and hemoglobin levels. If they have heart disease, they need even more transfusions because their heart doesn't tolerate low hemoglobin levels. Treating these patients with transfusions is just a temporary measure and the red blood cells are eventually destroyed, leaving an excess of iron. Hemorrhage is another complication of bone marrow failure. The bone marrow fails to make enough platelets and severe bleeding can ensue. These patients can receive platelet transfusions when they are hemorrhaging, but this is only a temporary measure and some patients develop antibodies to platelets, so giving platelets fails to be helpful. The overall approach to bone marrow failure depends on what caused the bone marrow to fail. If the patient had an immune problem resulting in bone marrow failure, they can have immunosuppressant therapy to block the abnormal immune response. Growth factors and androgens can be given to stimulate red blood cell formation. Danazole is one type of androgen that can be given to increase the bone marrow's ability to make red blood cells, but only 45% of patients respond to this therapy. Immunosuppression medications can be given that block bone marrow failure secondary to immune diseases. Androgens like cyclosporine, lymphocyte immune globulin, methylprednisolone, and prednisone can be given to block the immune system's adverse reaction toward bone marrow cell production. As mentioned, androgens like danacrine can be given that stimulate red blood cell production. The goal is to choose androgens that don't cause secondary virilization in children and women with bone marrow failure. There are a few androgen medications available that can be used in bone marrow failure that don't have negative side effects like virilization. The management of the patient with anemia. Patients with anemia can be treated by a hematologist. Anemia can be simply defined as having a hemoglobin less than the normal range. In men, a hemoglobin of around 13.5 mg per deciliter is normal. And in women, a hemoglobin of around 12 mg per deciliter is normal. Anemia can be caused by a reduction in the production of red blood cells or hemoglobin, a loss of hemoglobin through hemorrhage, or a destruction of red blood cells in the body. Many patients with anemia have no symptoms. Those who do have symptoms may feel overly tired, easily fatigued, be pale in appearance, have tachycardia, have shortness of breath, have hair loss, or have worsening of coronary artery disease. The detection of anemia involves having a CBC that can detect both anemia and other red blood cell disorders. The treatment of anemia depends upon the cause of the disease. Patients with long-standing anemia or chronic anemia may have an adjustment in their oxygen levels so they have no symptoms unless the anemia becomes extremely severe. Rapidly progressing anemia may result in the onset of extreme symptoms even when there is a mild reduction in hemoglobin. Anything that interferes with the normal lifespan of a red blood cell may result in anemia. Red cells normally last about 120 days. Red blood cells are made in the bone marrow so failure of the bone marrow can be a primary cause of anemia. Besides a decrease in the production of red blood cells or hemoglobin, there can be an increase in red blood cell loss or a destruction of red blood cells by the spleen or liver. Anemias are classified as to their mean corpuscular volume or MCV. The MCV represents the volume of each red blood cell. An MCV of less than 80 indicates a microcytic anemia with a low blood cell volume. If the MCV is within normal limits, 80 to 100, the anemia is referred to as a normocytic anemia. If the MCV is high, the anemia is referred to as a macrocytic anemia. An evaluation of the CBC and a close look at the MCV can aid in the diagnosis of anemia. The most common cause of anemia is iron deficiency anemia. This is because iron is crucial for the production of hemoglobin. Iron deficiency anemia can be due to a lack of dietary iron or blood loss that lowers the total iron stores. When the iron levels are low, the individual develops iron deficiency anemia. Anemia is particularly common among young women who have iron deficiency anemia because of a gradual blood loss through menstruation. These women generally have no symptoms because the blood loss is small each month and the body has a chance to compensate. Another typical cause of iron deficiency anemia is recurrent or ongoing mild bleeding problems, such as from colon cancer bleeding or blood loss due to stomach ulcers. Stomach ulcers generally occur because of an increase in use of non-steroidal anti-inflammatory medications or aspirin. They cause ulcerations of the stomach mucosa that bleed and decrease the total iron stores. This could cause a gradual loss of iron and secondary iron deficiency anemia. On the other hand, iron deficiency anemia in babies and children is not secondary to blood loss or bone marrow problems, but is secondary to dietary deficiencies of iron. This is treated completely differently from iron deficiency anemia secondary to acute or chronic blood loss. Hematologists use the complete blood count to evaluate iron deficiency anemia. The test will reveal a low hematocrit and low hemoglobin with red blood cells showing a mean corpuscular volume that is low, indicating an iron deficiency anemia. Acute blood loss secondary to internal bleeding or blood loss from external bleeding in traumatic situations can cause the rapid onset of anemia. This type of anemia can result in severe symptoms and life-threatening consequences if not quickly evaluated and treated. The major symptoms of anemia secondary to acute blood loss include lightheadedness, dizziness, tiredness, confusion, shortness of breath, and progressive loss of consciousness. Other causes of anemia include deficiency of vitamin B12, which leads to pernicious anemia. This results from an inability to absorb vitamin B12 from the intestines from being a vegetarian, in which the vitamin B12 intake is poor, being a long-term alcoholic, and having a stomach problem in which intrinsic factor is not made. There can also be an intestinal problem that limits vitamin B12 absorption even when the intake is good. Vitamin B12 deficiency leads to macrocytic or large blood cell volume anemia. Both vitamin B12 and folate are involved in the production of the hemoglobin molecule. Besides vitamin B12, folic acid deficiency can lead to macrocytic anemia. Low folic acid levels can come from poor absorption of folic acid or from eating an inadequate amount of the nutrient seen in leafy green vegetables. Long-term alcohol use can lead to folic acid deficiency. Destruction of red blood cells leads to hemolytic anemia. This is secondary to the antibody tagging of red blood cells and the immune destruction of the cells. Other causes of hemolytic anemia include hemolytic diseases of the newborn, medications that increase the destruction of red blood cells, hemolysis occurring in transfused cells, and classical autoimmune-mediated hemolytic anemia. Bone marrow failure can lead to anemia. Cancers can spread to the bone marrow and crowd out red blood cell function. Bone marrow cancers, such as multiple myeloma or leukemia, can cause bone marrow failure by interfering with the normal production of red blood cells in the marrow. Chemotherapy drugs can damage the bone marrow's ability to make red blood cells and can cause anemia. Infections of the bone marrow can damage the bone marrow, resulting in anemia. Patients who have kidney disease may not make enough erythropoietin, so the signal to make red blood cells is lacking. Another cause of anemia is known as anemia of chronic disease. This is common among individuals who have long-lasting chronic diseases. Medications can be the culprit in certain anemias. Common immunodeficiency virus, or HIV, and acquired immune deficiency syndrome, or AIDS, can be causes of anemia of chronic disease. Hereditary disorders can result in abnormal hemoglobin molecules that don't carry iron normally or that result in a shorter lifespan of red blood cells. Hereditary disorders include sickle cell anemia, alpha thalassemia, and beta thalassemia. Hereditary anemias may be mild or severe depending on the cell's ability to carry hemoglobin despite being abnormal. Certain hereditary anemias result in immediate death of the fetus in utero, while others are mild and are only picked up during routine screening later in life. Hematologists use the complete blood cell count, or CBC, to detect anemias. The CBC can be done as part of a screening test or can be done because there is a clinical suspicion for anemia. The routine CBC includes a red blood cell count, hematocrit, hemoglobin, white blood cell count, differential, and platelet count. The red blood cell count, hematocrit, and indices identify anemia, while the mean corpuscular volume, or MCV, is used to distinguish between the various causes of anemia. The treatment of anemia depends on the cause of the disease. Doctors look for an underlying cause of the anemia and treat this to improve the production of red blood cells. Blood loss sources can be identified and corrected. Stomach ulcers can be treated to stop internal bleeding, and surgery can be done to remove colon cancer, which is often a source of occult bleeding. Iron supplements can also be used to correct iron deficiency anemia. Severe anemia results in the need for blood transfusions. Injections of vitamin B12 can be given to patients with pernicious anemia or anemia secondary to a lack of B12 intake. Patients with bone marrow failure from disease or chemotherapy can receive medications to stimulate the bone marrow. Any failure patient can be given ipoatin-alpha, which stimulates the red blood cell production in the bone marrow. Key Takeaways Common bleeding disorders include hemophilia and von Willebrand disease, which are hereditary bleeding disorders. Most hereditary bleeding disorders are secondary to a lack of a clotting factor necessary for the clotting process. Bone marrow disorders can include overproduction of a blood cell line because of a cancerous or non-cancerous condition. Bone marrow failure can result in loss of all cell lines or just a loss of a single line. Treatment of bone marrow failure can be temporarily fixed with stimulatory medications or transfusions of red blood cells or platelets. Treatment of bone marrow failure can temporarily be fixed with stimulatory medications or transfusions of red blood cells or platelets. The definitive treatment for bone marrow failure is a bone marrow transplant. Anemias are defined by the size of the red blood cell. Anemia can be due to blood loss, nutrient deficiencies or decreased nutrient absorption or to increased destruction of red blood cells. The treatment of anemia depends on what is causing the anemia. The patient is a 14-year-old female with menorrhagia. She has a family history of bleeding disorders but doesn't remember what kind of bleeding disorder runs in the family. How can she be evaluated? Obtain a hemoglobin and serum iron level. If the iron level is low, recommend supplemental iron. Obtain a CBC and bleeding time to screen for a bleeding disorder. Obtain a hemoglobin, bleeding time, pro-time and partial thromboplastin time. Obtain levels of all the clotting factors to define what bleeding disorder she has. As it isn't clear yet that she has a bleeding disorder, she can be screened by having a hemoglobin, bleeding time, pro-time and partial thromboplastin time. If she has abnormalities, she can be evaluated further with clotting factor levels. It would be too expensive to screen by checking the clotting factor levels. A hemoglobin and serum iron level won't address her possible bleeding disorder. The patient is a 2-year-old male with spontaneous bleeding in his knee joint. He has no family history of a bleeding disorder. What do you suspect? A. Haemophilia B with autosomal recessive inheritance that hasn't yet been discovered in the family. B. Haemophilia A that is a new mutation so it won't have a family history. C. Spontaneous mutation causing type 1 von Willebrand disease. D. Acquired von Willebrand disease. Answer B. As this is a male with a serious bleeding disorder, the most likely diagnosis is Haemophilia A with a spontaneous mutation. Von Willebrand disease type 3 can also be the cause as this causes severe bleeding. It is not likely to be secondary to acquired von Willebrand disease and type 1 von Willebrand disease is generally mild. Number 3. The patient is a 66-year-old male who presents with dyspnea. He is found to have a hemoglobin of 7 mg per deciliter, platelet count of 50,000, and a white blood cell count of 50,000. What is likely happening? A. He has evidence of a bleeding disorder and anemia so he probably has blood loss anemia. B. He has an elevated white blood cell count which could represent leukemia with crowding out of the red blood cell line production and platelet production. C. He has evidence of early bone marrow failure suggestive of aplastic anemia. D. He has fibrosis in his bone marrow that has impacted his red blood cell production and platelet production. Answer, B. His elevated white blood cell count is suggestive of a leukemia that has crowded out his red blood cell production and platelet production. Number 4. The patient is a 33-year-old male with clinical evidence of anemia and bleeding issues. The CBC shows a hemoglobin of 6 mg per deciliter, a platelet count of 45,000, and a WBC of 1,000. How do you probably treat this patient? A. Set him up for platelet transfusion, white blood cell transfusion, and packed red blood cell transfusions. B. Find out what toxic exposures he has come in contact with and remove those toxins in the blood. C. Obtain a thorough family history and attempt to find a matched donor relative for a bone marrow transplant. D. Look through the National Bone Marrow Registry to find a suitable donor for the patient. Answer, C. This patient shows evidence of aplastic anemia, which is likely not due to toxic exposure. The only definitive treatment that can lead to a long-lasting treatment is a matched bone marrow transplant with a related donor. Unrelated donor transplants have a low chance of success. Number 5. The patient has no symptoms but has a routine CBC, showing a hemoglobin of 11 mg per deciliter, a platelet count of 750,000, and a WBC count of 3,000. What is his likely diagnosis? A. Cancer of unknown etiology with bone marrow involvement. B. Essential thrombocytosis. C. Early bone marrow failure with loss of WBC cell production and loss of RBC cell production. D. Chronic lymphoma with bone marrow involvement. Answer, B. His most likely diagnosis is essential thrombocytosis, as he has no symptoms and a markedly elevated platelet count, with mild reductions in the red blood cell count and white blood cell count. Number 6. The patient has a low hemoglobin, a low white blood cell count, and a low platelet count. A bone marrow biopsy is difficult to obtain, as there doesn't seem to be a lot of red marrow in the patient's hip bone. What do you suspect the patient has? A. Early leukemia that hasn't yet resulted in an elevated white blood cell count. B. Fanconi's anemia with involvement of the bone marrow. C. Myelofibrosis. D. Kidney failure with lack of erythropoietin. Answer, C. The patient is lacking in red marrow, which makes all cell lines. Because his bone marrow is difficult to aspirate, the most likely diagnosis is myelofibrosis that has decreased the amount of red marrow in the bone. Kidney failure would lead only to red blood cell loss. The same is true for Fanconi's anemia. Early leukemia would show evidence of leukemia on a bone marrow biopsy. Number 7. The patient is a 32-year-old female with an incidental lab finding of a hemoglobin of 11 mg per deciliter. What is the next test you would do to establish the diagnosis? A. A bone marrow biopsy. B. A serum iron level. C. A serum B12 level. D. Kidney function studies. Answer, B. The most common cause of anemia in women who are menstruating is iron deficiency anemia, secondary to menstrual blood loss. The workup can include other testing if the serum iron doesn't seem to be the cause of the anemia. Number 8. A 68-year-old diabetic patient with hypertension has an incidental finding of a hemoglobin of 10.5 mg per deciliter. The most common cause of anemia in this patient is what? A. Blood loss anemia with low iron stores. B. Macrocytic anemia with low B12 absorption. C. Chronic renal failure with decreased erythropoietin. D. Macrocytic anemia with low folate intake. Answer, C. This patient has clinical evidence of chronic disease, which probably includes diabetic nephropathy. This leads to a lack in erythropoietin and secondary anemia. Number 9. The patient is a 69-year-old male with peptic ulcer disease who is found to have macrocytic anemia. What is the likely cause of this anemia? A. Anemia of chronic disease. B. Anemia secondary to low folate intake. C. Anemia secondary to B12 deficiency. D. Anemia secondary to lack of B12 absorption. Answer, D. This patient has peptic ulcer disease and a high likelihood of a reduced production of intrinsic factor. This results in poor absorption of vitamin B12. Number 10. The patient is a 54-year-old alcoholic male with an incidental finding of a hemoglobin of 10 mg per deciliter and an increased MCV. What is the most likely cause of the anemia? A. Anemia of chronic disease. B. Folate deficiency anemia. C. B12 absorption problems. D. Anemia secondary to alcoholic gastritis and occult blood loss. Answer, B. The most common cause of anemia in alcoholic patients is folate deficiency, which can be proven by checking a folate level. For more information visit www.FEMA.gov
