Lange Q&A Heme/Onc Flashcards
A 32yo African American asymptomatic woman presents to her gynecologists office for a physical exam. She has no medical history. She mentions that she has recently become engaged and that she is aware that her fiancees family have suffered from sickle cell disease, although he is “healthy”. They are planning a honeymoon to the mountains. Which of the following would be MOST appropriate to discuss?
a) The risk of infertility for her husband, if he carries the sickle cell gene.
b) Reassure her of the low risk of illness for her children, given her future husband’s lack of apparent sickle cell disease.
c) Offer to refer her for genetic counseling.
d) Advise against travel to high-altitude regions for her husband.
e) Counseling regarding the increased risk of sexually transmitted infections for those with the sickle cell trait.
c: Sickle cell disease (Hb S disease) is an autosomal dominant hemoglobinopathy. The homozygous form (SS), sickle cell anemia, results in sickling of erythrocytes, occurring when oxygen levels decrease at the tissue level. This results in impedance of blood flow to organs. Hemolysis often accompanies these abnormal erythrocytes. Although sexual and growth maturation are often delayed, most puts with the disease are fertile. Sickle cell crises are often precipitated by infection and those with sickle cell disease are at increased risks of infection from encapsulated organisms. Given the apparent good health of this woman’s fiancee, he likely does not have sickle cell disease but may carry the trait. Those heterogenous (AS) for the gene are referred to as having the sickle cell trait. The risk of carrying the trait is approx 8% for those of African descent in the U.S. Therefore, those with family histories of the disease likely carry the trait and GENETIC TESTING should be offered before childbearing. Given the strong family hx of this man and the woman being of African descent, testing should be offered they both may carry the gene. Those with sickle cell trait are typically asymptomatic with mild or absent anemia. Although sickle cell crisis may occur at high altitudes for those with the disease, sickle cell crises are rare in those who are only carriers. The risk of STDs is not increased for those with the trait or the disease.
Which of the following is true of iron deficiency anemia?
a) It is most commonly due to acute blood loss
b) It does not frequently occur from the typical American diet
c) The primary cause during pregnancy is increased red blood cell destruction
d) Confirmation by bone marrow aspiration is required.
e) Treatment with long term iron replacement is typically greater than 1 year
b: Iron deficiency anemia is most commonly due to chronic blood loss. In the U.S, dietary deficiency is uncommon (except during pregnancy) and should not be presumed unless potential source of blood loss have been excluded. However, dietary deficiency often occurs in pregnancy because of increased production of erythrocytes. Supplementation during pregnancy is routinely recommended. In mild-moderate iron deficiency, the reticulocyte count is mildly elevated although the corrected reticulocyte count is usually low. Low reticulocyte counts are often seen in more severe disease. Elevated TIBC and low levels of iron, ferritin, and transferrin in the setting of microcytic anemia confirm the dx. Once the dx of iron deficiency anemia is made, the underlying cause must be found and tx. Iron replacement may be needed in moderate-severe cases and is typically accomplished within 6-12 months. Once iron stores have been replaced, iron supplementation should be stopped to prevent iron toxicity or mask further blood loss.
Which of the following are consistent with lead poisoning.?
a) Profound anemia
b) Complaints of severe fatigue and persistent muscle weakness
c) acute difficulty concentrating after exposure
d) basophilic stippling
e) Tx with chelating agent is always required
d: Lead poisoning is a common occurrence, usually resulting in mild anemia. Patients often have vague complaints including fatigue, abdominal pain, difficulties with concentration, and muscle weakness. The most common severe complication of the disease is the development of episodic paralytic ileus. Mild anemia and the presence of basophilic stippling are often seen. Lead levels should be checked in anyone presenting with these complaints and at risk, including children and adults with an occupational/environmental exposure. Primary tx is to remove the source of lead. Chelating agents may be needed for those who are symptomatic or with very high levels.
A 48yo previously healthy, African American man present to his local ED with dyspnea on exertion while mowing the grass. He has no significant medical hx. Lab studies reveal a WBC count of 6.1, Hgb of 9.7, Hct of 29, MCV of 68, and platelet count of 254,000. What dx is most likely causing his symptoms?
a) sickle cell anemia
b) Thalassemia
c) Iron deficiency
d) Hemolytic anemia
e) TTP
c: Anemia may be the result of a wide variety of causes. Once a pt is found to be anemic, the next step is determining the underlying etiology. Anemia may be divided into microcytic, normocytic, and microcytic on the basis of the MCV of the erythrocytes. Once this has been determined, the differential dx may be narrowed and appropriate adjuvant tests can be ordered. Microcytic anemia is most commonly seen in the presence of iron deficiency. Thalassemia will also result in a microcytic anemia but is less common in the U.S. Both lead poisoning and anemia of chronic illness may result in a mildly lower MCV, but a normocytosis is more commonly seen. In addition, patients with chronic illnesses often have more than one contributing factor for their anemia; and therefore, MCV may be low, high, or normal. In a previously healthy individual with microcytic anemia, and with normal WBC count and platelet counts, iron deficiency should be suspected.
Which of the following is true of macrocytic anemias?
a) Causes include poor absorption of vitamin B12 in the stomach due to prior gastrectomy
b) Schilling test is used to dx folate deficiency
c) Folate supplementation should be started empirically to prevent worsening anemia, while further studies are being performed
d) When associated with loss of taste and atrophy of the tongue mucosa, it suggests B12 deficiency.
e) Strict vegetarians are at risk of folate deficiency and may need chronic supplementation.
d: Vitamin B12 and folate deficiencies are common forms of macrocytic anemia. Vitamin B12 is found in animal products and is generally available in typical American diets. Intrinsic factor is secreted in the stomach to allow absorption of B12 in small intestines. Those with prior gastrectomy are at high risk of B12 deficiency anemia and therefore commonly need monthly replacement. B12 deficiency results in neurologic injury and atrophy of the tongue along with loss of taste sensation. A Schilling test may be used to determine the cause of B12 deficiency . Folate is found in veggies and deficiencies are more commonly seen in the U.S. It is important to confirm the cause of macrocytic anemia prior to beginning folate replacement. Folate supplementation in patients deficient in B12 may help to correct the anemia but will mask B12 deficiency and could result in permanent neurological impairments.
Thalassemia
a) is a rare cause of normocytic, normochronic anemia
b) is most common in those of European descent
c) may result in few problems, except during stress states
d) may be dx by peripheral smear
e) may be an acquired or hereditary disease
c: Thalassemia is a group of genetic disorders affecting one or more of the subunits of the hemoglobin chain resulting in a microcytic, hypochromic anemia. It is most common in those of African descent. Presentation may occur early or later in life, depending upon the affected subunit and number of genetic abnormalities involved. The most common form (Thalassemia minor) results in only mild disease, often goes undiagnosed and requires no tx; other forms are life-threatening. Dx is made by Hb electrophoresis, which should be ordered when ds is suspected.
A 76yo woman presents to the ED after experiencing severe pain in the left hip, worse upon standing or walking. She denies any falls of trauma precipitating the pain. Physical exam reveals enlarged suboccipital and cervical lymph nodes. Electrophoresis studies are positive for serum IgM. Subsequent urinalysis was positive for Bence-Jones proteins. Which of the following additional findings would be consistent with the most probably dx?
a) hypercalcemia
b) jaundice
c) osteoblastic lesions on xray
d) splenomegaly
e) hypotension
a: This pt has multiple myeloma which is confirmed by serum electrophoresis. Multiple myeloma is a malignancy of plasma cells arising from a single clone. These plasma cells secrete immunglobin, resulting in clone spike on electrophoresis. Plasma cells proliferate bones, resulting in osteolytic lesions. Bone pain and fx as well as hypercalcemia are most common findings. Hypercalcemia can result in renal impairment or failure. Associated infiltration of the bone marrow results in anemia, neutropenia, and thrombocytopenia. Hypotension would not be expected in such a pt unless she presented with a neutropenic infection resulting in shock. Splenomegaly does not occur with multiple myeloma.
A 16yo girl presented with an enlarged lymph node at the back of her neck. After and ultrasound of the lymph node, she was told that it was “benign”. Two weeks later, another node appeared in the same general region and it was mildly tender. Upon questioning, she stated she does have cats but does not remember being scratched prior to the first enlarged lymph node. The pt was placed on azithromycin without resolution. A CBC was obtained, which revealed Hct of 31.8 and WBC of 152.4 with a differential of 26% neutrophils (normal 48-55%), 69% lymphocytes (normal 7-33%), 3% monocytes (normal 2-7%), 1% eosinophils (normal 1-4%), and 1% basophils (normal 0-1%). Given the pts age and presentation, the probable dx is:
a) cat-scratch disease
b) CML
c) CLL
d) aplastic anemia
e) ALL
e: The initial suspected dx of cat-scratch fever, Bartonella infection, is typically self-limited but may be tx with azithromycin. The presence of significant leukocytosis with associated lymphocytosis suggests leukemia as a probably dx. ALL is the most common childhood leukemia. Although most pts present with symptoms s/a fatigue, frank bleeding, or SOB, others may present with more subtle complaints. Bone marrow bx is necessary to confirm dx.
A 68yo man presents with a 10-week hx of fatigue, anorexia, and a 10lb weight loss. During the last 2 days he has had increasing SOB and bleeding of the gingivae. He is found to be profoundly anemic and thrombocytopenic. Total WBC count is 15,000. What diagnostic evaluation is promptly indicated to confirm suspected dx?
a) chest xray
b) lumbar punctures
c) blood cultures
d) bone marrow bx
e) genetic testing
d: This pts hx and presentation is most consistent with AML, which typically presents later in life. A prompt dx, with bone marrow bx, is essential to guide additional evaluation and allow for prompt tx. Although other tests such as chest X-ray, lumbar puncture, and cultures may be necessary, theses will no be diagnostic of patients leukemia.
Disseminated intravascular coagulopathy
a) is a common complication of preoperative blood loss
b) when diagnosed promptly is often self-limiting, resulting in low morality
c) frequently causes thrombotic complications
d) is often idiopathic
e) should not be managed with fresh frozen plasma (FFP) and platelets, as both are contraindicated
DIC is a systemic disorder resulting from abnormal and excessive activation of the clotting cascade. Underlying causes may include sepsis, trauma, obstetric complications, and other causes of shock. Tx of the underlying cause is the most important consideration, given the high mortality of 30%-80%. The disease results in both excessive bleeding and clotting, often resulting in organ damage such as renal impairment. The condition may be life-threatening and rapid tx of the underlying ds is critical for survival. Replacement factors s/a platelets, FFP, and cryoprecipitate should be used if needed; however, they could result in worsening organ damage because of increased clotting. Heparin is sometimes used for tx of the dis, with the goal to reduce thrombosis formation; however, heparin therapy remains controversial since it also has the potential of worsening bleeding.
Choose the correct statement regarding the condition known as Christmas disease:
a) is a deficiency of factor XI
b) is similar to factor VIII deficiency and may be tx with factor VIII concentrates
c) may result in both easy bleeding and clotting
d) another name for this disease is Hemophilia A
e) is a x-linked recessive disease, affecting primarily men
e: Christmas disease , aka Hemophilia B and factor IX hemophilia, is a hereditary bleeding disorder. Abnormal thrombosis does not occur. IT is managed with factor IX concentrates of FFP. IT is necessary to distinguish between hemophilia A and hemophilia B, since both diseases present similarly but require appropriate factor replacement.
What is a common cause of intravascular hemolytic anemia?
a) blood transfusion reaction
b) lead poisoning
c) TTP
d) sickle cell anemia
e) DIC
a: Hemolysis may occur in a variety of settings and is associated with both acute and chronic illnesses. Distinguishing intravascular and extravascular hemolysis will assist in determining the underlying cause. Testing for hemoglobinemia and hemoglobinuria will make this distinction. Causes of intravascular hemolysis include transfusion reactions, malaria, and mechanical heart valves. Extravascular hemolysis may occur with drugs s/a antibiotics and antimalarial agents, DIC, TTP, and sickle cell anemia. Lead poisoning results in inhibition of heme synthesis and injury to red cell membranes, resulting in mild-moderate microcytic anemia. It is not typically associated with hemolysis
A 28yo woman presented to her PCP for her annual exam reporting that she had noticed recently that when she took her normal dose of 2 aspirin for menstrual cramps, she subsequently experienced a small amount of nose bleeding. She was concerned because she had been told that her family had “problems with bleeding”. She was found to have a prolonged bleeding time and a reduced level of VIII antigen. Considering the pts age, the most appropriate initial tests would include:
a) plasma von Willebrand factor (vWF) concentration
b) factor VIII: C level
c) factor IX coagulant activity
d) vitamin K level
e) folate
a: von Willebrand factor is found in both plasma and platelets. Deficiencies may manifest with variable degrees of easy bleeding. von Willebrand disease is the most common inherited bleeding disorder and should be considered first in someone with abnormal bleeding. Factor VIII: C level should be measured in evaluation for hemophilia A, while factor IX results in hemophilia B. Vitamin K deficiencies typically occur in those with chronic disease and would be unlikely in an otherwise healthy young woman.
In which situation should you most likely consider referring a pt for genetic counseling?
a) personal hx of breast cancer at age 52
b) family hx of a mother with primary brain tumor at age 3
c) family hx of maternal grandmother with breast cancer at age 52, maternal grandfather with prostate cancer dx at age 78, and paternal grandfather with lung cancer dx at age 64
d) family hx of a sister with colon cancer at age 29
e) personal hx of several skin cancers and three prior colonic polyps, now with colon cancer at age 58
d: genetic testing has become increasingly available for various genetic mutations, although there is much work to be done in this field. Since cancer is a primary cause of death in the U.S., virtually all pts will have some family hx of the disease. Personal family hx, which may raise concern for a possible hereditary disease, include multiple family members with malignancy at a younger age (i.e. younger than expected for particular disease). Consideration of genetic susceptibility is most important when screening tests for the disease are available and when risk reduction strategies are available. For these patients, referral to a genetics counselor should be considered. Risk factors for hereditary cancer syndromes include early age onset, multiple family members with the same cancer, and clustering of cancer known to be causes by a single gene mutation.
Heparin-induced thrombocytopenia (HIT)
a) typically occurs w/in 24hrs of first exposure to heparin
b) is more common with LMWH
c) is frequently associated with severe bleeding complications
d) is treated with steroids, which may allow for continuation of heparin when medically necessary
e) can result in complications, such as PE
e: HIT is an immune-mediated disease resulting in the formation of immune complex binding of platelets, which results in typically mild to moderate thrombocytopenia. These platelet complexes can result in thrombotic complications. HIT may occur after prior exposure to heparin and typically develops within the first few days following exposure. It is more common with unfractionated heparin, as opposed to LMWH. Management is primarily withdrawal of the agent and further exposure to heparin is contraindicated.
