case studies chapter 20

A 26-year-old pregnant woman presents to your office for a checkup. She states that her pregnancy has been proceeding smoothly, although she has been feeling more tired than she expected. Her physical examination is largely unremarkable except for marked pallor. You order serum studies and find that she has decreased hematocrit, decreased ferritin, and increased TIBC. Her peripheral blood smear shows RBCs that are both microcytic and hypochromic. You reassure her that these findings are most likely associated with her pregnancy status and you recommend that she start taking iron supplements

Iron-deficiency anemia/

A 46-year-old man presents to your office complaining of weakness and a "pins and needles" feeling in his extremities. You note that he is ataxic and has decreased vibration and position sense in both his arms and legs. Upon further examination, you also observe that his tongue is red and enlarged. When laboratory tests reveal a positive Schilling test and a macrocytic anemia, you question the patient's diet habits, drinking habits, and history of abdominal surgery.

Megaloblastic anemias

Pernicious anemia/Vitamin B12 deficiency anemia/Folate deficiency anemia

An 8-year-old African American boy presents to the emergency department complaining of severe pain in both legs. The pain began after the boy attended a pool party and spent much of the day swimming. He reports that he has suffered from severe bouts of back and chest pain in the past owing to a preexisting medical condition. Routine laboratory studies demonstrate a severe anemia. You place the child on oxygen, begin aggressive intravenous fluid hydration, and call the blood bank to prepare for a blood transfusion.

Sickle cell anemia

A 10-month-old male infant from Greece presents with pallor and failure to thrive. During physical examination, you find that his spleen is enlarged and that he has an abnormal facial structure. You order a peripheral blood smear, which shows a microcytic, hypochromic anemia with target cells. You begin to suspect that this child may need blood transfusions for the rest of his life.

Thalassemias

A 15-year-old adolescent girl presents to the emergency department with a petechial rash, bleeding of the oral mucosa, fatigue, and a history of recurrent sinus infections over the past 2 months. She does remember having had a bad flu-like virus about 3 months ago that caused her to miss 4 days of school. There is no hepatosplenomegaly on examination. Laboratory tests reveal anemia, neutropenia, and thrombocytopenia. There are no abnormal cell types seen on peripheral blood smear. You decide to admit the patient to the hospital and you schedule a bone marrow biopsy.

Aplastic anemia

A 30-year-old woman arrives at the emergency room complaining of fatigue and dark-colored urine. While obtaining the history of her present illness, you learn that she has been recovering from a recent bout of atypical pneumonia, for which she had been treated appropriately by her primary care physician with a course of antibiotics. Physical examination reveals an enlarged spleen and slight scleral icterus. When blood tests reveal an elevated LDH, elevated indirect bilirubin level, and decreased hematocrit, you begin to wonder if a direct Coombs test will confirm your suspected diagnosis.

Autoimmune hemolytic anemias/Cold agglutinin disease/Warm antibody autoimmune hemolytic anemia

A 6-year-old boy presents to your office complaining of fatigue, fever, and a history of recurrent epistaxis (nose bleeds) and UTIs. He is remarkably pale and has a petechial rash over his entire body. Concerned, you send him for some blood tests, which demonstrate pancytopenia with the presence of multiple blast forms. You fear that a bone marrow biopsy may demonstrate cells that would stain positive for TdT and CALLA.

Acute lymphoblastic leukemia

A 52-year-old woman presents to your clinic complaining of a 2-week history of low-grade fever and weakness. Further evaluation reveals that she has suffered from various infections over the past 3 months. Upon physical examination, you note that she is pale with a petechial rash and that she has an enlarged spleen and liver. After a peripheral blood smear demonstrates pancytopenia with multiple myeloblasts, you immediately refer this patient to a hematologist/oncologist

Acute myelogenous leukemia

A 55-year-old man presents to your office complaining of a feeling of heaviness in his abdomen. He has had several infections over the past 6 months. Physical examination demonstrates a massively enlarged spleen and a peripheral blood smear reveals abnormal cells with filamentous projections. As you refer this patient to a hematologist/oncologist, you reassure him that his disease is very sensitive to treatment.

Hairy cell leukemia

A 44-year-old man presents to your clinic complaining of severe fatigue. Physical examination is relatively unremarkable except for an enlarged spleen. You send him to the laboratory for blood tests, which reveal multiple immature granulocytes on peripheral blood smear, a high WBC count, and low LAP activity. Based on these test results, you begin to suspect that he may have a chromosomal abnormality.

Chronic myelogenous leukemia

A 22-year-old man presents to your office complaining of a painless lump in his neck. Upon further questioning, you discover that he has had a low-grade fever and drenching night sweats for the past 2 months. He also has lost 14 lb over the past 8 weeks. Physical examination reveals unilateral cervical lymphadenopathy and splenomegaly. A lymph node biopsy reveals large multinucleated cells with prominent nucleoli resembling owl's eyes. You immediately refer the patient to a hematologist/oncologist.

Hodgkin lymphoma

A 57-year-old man presents to your office after noticing a large painless lump in his neck. Upon questioning, he tells you that he has been suffering from a low-grade fever over the past 3 months. He has also lost 10 lb during that time. Physical examination reveals painless cervical and inguinal lymphadenopathy and hepatosplenomegaly. Blood tests reveal a mild anemia as well as elevated LDH levels. You decide to send him for a lymph node biopsy.

Non-Hodgkin lymphoma

Burkitt lymphoma/Diffuse large B-cell lymphoma/Follicular lymphoma

An 18 yr old male presents to your primary care clinic for evaluation of jaw swelling and pain. he denies any recent trauma to the area and reports good dental care. he recently moved to the US from Africa. further history is notable for night sweats over past several months. Physical examination demonstrates and osteolytic lesion in the jaw, you begin to wonder if a biopsy of the mass will demonstrate a classic starry-sky appearance of cells

Non-Hodgkin lymphoma B/ Burkitt Lymphoma

A 69-year-old man presents to the emergency department complaining of pain in his neck and back. Upon directed history, he also reveals that he has been extremely tired and has suffered from two UTIs over the past 4 months. An x-ray of his back reveals fractures in the L2 and L3 vertebrae as well as punched-out lytic bone lesions in the posterior skull. Laboratory studies reveal a mild anemia as well as an elevated BUN and creatinine. You decide to admit him to the hematology/oncology service for further evaluation.

Multiple myeloma

An 8-year-old boy presents to the emergency department with a swollen right knee. He denies a history of trauma to the knee. Physical examination reveals a warm, swollen, erythematous joint with a significant effusion. Upon taking a family history, you learn that two of the boy's maternal uncles suffer from a bleeding disorder. Laboratory tests reveal a prolonged PTT, a normal PT, and a normal bleeding time. To provide the proper treatment, you immediately order a clotting factor assay.

Hemophilia A/Hemophilia B deficiency