UWorld Pathology 1 Flashcards

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1
Q

Patient with fatigue, nausea, pruritus, and scleral icterus has characteristic biopsy findings associated with ——–, a chronic disorder characterized by inflammation, fibrosis, and stricture of the intrahepatic and extrahepatic bile ducts. Histologic features include fibrous obliteration of the bile ducts and concentric periductal deposition of connective tissue, which resembles an onion skin–like pattern. PSC affects men disproportionately and has a strong association with ulcerative colitis, likely explaining this patient’s bloody stools.

A

primary sclerosing cholangitis (PSC)

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2
Q

——sided colon cancers (ascending colon) usually grow as exophytic masses and present with occult bleeding and symptoms of iron deficiency anemia. ——sided colon cancers tend to infiltrate the intestinal wall and encircle the lumen, causing constipation and symptoms of intestinal obstruction.

A

Right

Left

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3
Q

Korsakoff syndrome is associated with damage to the —– nuclei. This results in memory loss and a psychological phenomenon called “confabulation.” Usually perminent

A

anterior and dorsomedial thalamic

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4
Q

One of the most dangerous effects of SHS exposure (pre- and postnatal) is the increased risk of ——

SHS also increases the risk of recurrent otitis media, asthma, and other respiratory tract illnesses (eg, pneumonia) in children.

A

sudden infant death syndrome (SIDS)

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5
Q

Left atrial myxomas frequently obstruct blood flow from the left atrium to the left ventricle, leading to a murmur mimicking that of —– (ie, mid-diastolic rumble at the apex). The obstruction can also lead to a decrease in cardiac output that manifests as dyspnea, lightheadedness, or syncope. Because the mass is typically mobile, obstructive symptoms may be transient and influenced by position (ie, upright posture exacerbates mitral obstruction, whereas lying down alleviates it). In some patients, fragments of the mass may embolize into the systemic circulation (eg, resulting in stroke or acute limb ischemia). In addition, some myxomas can produce cytokines (eg, interleukin-6) that lead to constitutional symptoms including fever and weight loss.

Histologically, these tumors demonstrate scattered myxoma cells within a mucopolysaccharide stroma and blood vessels, which may be encircled by myxoma cells. Myxomas produce a large amount of vascular endothelial growth factor, which contributes to the angiogenesis, hemorrhaging (seen as brown hemosiderin deposits), and friability characterizing these tumors.

A

mitral stenosis

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6
Q

—- ingestion causes acute tubular necrosis with vacuolar degeneration and ballooning of the proximal tubular cells. Typical clinical findings include altered mentation, renal failure, high anion gap metabolic acidosis, increased osmolar gap, and calcium oxalate crystals in the urine

A

Ethylene glycol (anti freeze)

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7
Q

Acute —– is an acute inflammation of the gallbladder in the absence of gallstones. It typically occurs in critically ill patients (eg, those with sepsis, severe burns, trauma, immunosuppression) due to gallbladder stasis and ischemia. Clinical findings may be subtle and include fever, right upper quadrant pain, and leukocytosis.

A

acalculous cholecystitis

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8
Q

—– disease, is an inherited peripheral nervous system tumor syndrome. Patients develop neurofibromas, optic nerve gliomas, Lisch nodules (pigmented nodules of the iris), and café au lait spots (hyperpigmented cutaneous macules)

A

Von Recklinghausen’s/or neurofibromatosis type 1 (NF1)

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9
Q

—- syndrome (encephalotrigeminal angiomatosis) is a rare congenital neurocutaneous disorder characterized by the presence of cutaneous facial angiomas as well as leptomeningeal angiomas. This condition is associated with mental retardation, seizures, hemiplegia, and skull radiopacities. Skull radiographs may show characteristic “tram-track” calcifications.

A

Sturge-Weber

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10
Q

—- syndrome (hereditary hemorrhagic telangiectasia) is an autosomal dominant condition marked by the presence of telangiectasias in the skin as well as the mucous membranes of the lips, oronasopharynx, respiratory tract, gastrointestinal tract, and urinary tract. Rupture of these telangiectasias may cause epistaxis, gastrointestinal bleeding, or hematuria.

A

Osler-Weber-Rendu

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11
Q

Barrett esophagus is a metaplastic condition in which the normal squamous epithelium of the distal esophagus is replaced by intestinal-type columnar epithelium. It occurs most often in longstanding acid reflux and is associated with an increased risk of —-

A

adenocarcinoma

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12
Q

Craniopharyngiomas are tumors arising from —– remnants in the anterior pituitary. They characteristically have three components: solid, cystic, and calcified. They present during childhood, usually, with mass effect and visual deficits.

symptoms include headaches, visual field defects, and hypopituitarism, evidenced by the growth retardation of this child. Ultimately, compression of the pituitary stalk by craniopharyngioma leads to hyperprolactinemia by loss of dopaminergic inhibition. Craniopharyngiomas are usually tumors of childhood, being most frequently discovered between the ages of 5 and 10 years of age.

A

Rathke’s pouch

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13
Q

Acute lymphoblastic leukemia (ALL) is the most common malignancy of childhood. B-cell ALL is responsible for approximately 70-80% of all cases of ALL, whereas –cell ALL accounts for 15-17% of all cases of ALL. T-cell ALL often presents as a mediastinal mass that can cause respiratory symptoms, dysphagia, or superior vena cava syndrome.

A

T

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14
Q

Follicular neoplasms typically present as slowly enlarging, painless thyroid nodules. Differentiation between a follicular adenoma and follicular thyroid carcinoma is not possible using only fine-needle aspiration results. Histologic evidence of invasion of the —— is needed to diagnose follicular thyroid carcinoma.

A

tumor capsule and/or surrounding blood vessels

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15
Q

—- thyroid carcinoma (the most common type of thyroid malignancy) has distinct cytologic and histologic features. These include laminar calcifications (psammoma bodies), large cells with pale, empty-appearing nuclei (Orphan Annie–eye or ground-glass nuclei) with nuclear inclusion bodies and nuclear grooves

A

Papillary

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16
Q

The —–is the area of the brain demonstrating the greatest degree of atrophy in Alzheimer’s disease.

A

hippocampus

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17
Q

Thinning of the glomerular basement membrane is seen in —- syndrome. Associated with microscopic hematuria. Alport syndrome is caused by an inherited defect in the formation of type IV collagen; patients have hearing loss, ocular abnormalities, hematuria, and progressive renal insufficiency

A

Alport

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18
Q

von Willebrand disease (vWD) will cause both a prolonged — and bleeding time. von Willebrand factor (vWF) is produced by endothelial cells and megakaryocytes and functions as a carrier protein for factor VIII and as a mediator of platelet adhesion to the endothelium. Absence of vWF leads to impaired platelet function and coagulation pathway abnormalities

A

PTT

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19
Q

—–, a precursor of calcitonin produced by monocytes and the C cells of the thyroid, is a unique APR that has positive and negative properties. Levels rise in response to bacterial toxins and fall in response to viral infections

A

Procalcitonin

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20
Q

In —– syndrome, there is an absence of GnRH secretory neurons in the hypothalamus due to defective migration from the olfactory placode. These patients have central hypogonadism and anosmia, and often present with delayed puberty.

Most often, the cause is a mutation in the KAL-1 gene or the fibroblast growth factor receptor-1 gene, which code for proteins required in this migration

A

Kallmann

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21
Q

Sickle cell disease is characterized by repeated splenic infarctions that ultimately result in splenic ——

A

atrophy and fibrosis

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22
Q

Severe macrocytosis (MCV >110 µm3) is usually due to megaloblastic anemia, a subtype of macrocytic anemia caused by impaired DNA synthesis.

Patients with sickle cell disease (SCD) or other hemolytic anemias have increased folic acid requirements due to increased erythrocyte turnover. As such, they are prone to developing relative —- deficiency and megaloblastic anemia

A

folic acid

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23
Q

Colon adenocarcinoma is the most common gastrointestinal malignancy. Right-sided lesions (location: )are more likely to bleed and cause iron deficiency anemia;

left-sided lesions tend to present with obstructing symptoms (eg, altered bowel habits, constipation, abdominal distension, nausea and vomiting).

A

ascending colon is right side

rectosigmoid colon is left side

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24
Q

Alzheimer disease is characterized by decreased levels of acetylcholine in the nucleus basalis of Meynert and the hippocampus, caused by defeciency of —-

A

choline acetyltransferase.

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25
Q

Pulmonary arterial hypertension is a common complication of systemic —, likely resulting from proliferation of T cells with release of cytokines (eg, TGF-beta) and consequent progressive thickening and occlusion of the small and medium-sized pulmonary arteries/arterioles. Patients typically have progressive dyspnea and a loud pulmonic component of S2 and may develop signs of right-sided heart failure (eg, hepatomegaly, peripheral edema).

A

sclerosis

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26
Q

Myxomatous changes, with pooling of mucopolysaccharides in the media layer of large arteries, are found in cystic medial degeneration, which predisposes affected patients to the development of —–. Medial degeneration in younger individuals is frequently due to Marfan syndrome

A

aortic aneurysms

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27
Q

Acute tubular necrosis is caused by renal ischemia and is characterized by oliguria, increased serum creatinine, and muddy brown casts. Ischemic injury predominantly affects the renal medulla, which has a relatively low blood supply. The terminal (straight) portion of the —– & ——of the loop of Henle are the most commonly involved portions of the nephron due to their high metabolic rate and location within the medulla

A

proximal tubules and the thick ascending limb

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28
Q

The most common cause of liver metastases is colorectal cancer, which spreads directly from the colon or superior rectum through the —- system to the liver. This patient, who has not received recommended cancer screening (eg, colonoscopy), likely developed hepatic metastases from colorectal cancer.

A

portal venous

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29
Q

Patient, an elderly woman with headaches, muscular pain, and a rapid response to glucocorticoids, has typical features of giant cell arteritis (GCA). Giant cell arteritis is characterized by —- inflammation of the media with intimal thickening and predominantly involves branches of the carotid artery, especially the temporal artery. It is strongly associated with polymyalgia rheumatica.

A

granulomatous

30
Q

Myotonic dystrophy is an autosomal-dominant disorder. It is caused by an increased number of —- on myotonia-protein kinase gene. Sustained muscle contraction (myotonia), along with weakness and atrophy, is common. Classic symptoms are difficulty loosening one’s grip after a handshake or inability to release the doorknob. Cataracts are seen in almost all patients. Frontal balding and gonadal atrophy are other common features.

Type 1 fibers are more affected.

A

trinucleotide repeats

31
Q

Osteosarcoma is the most common primary bone malignancy in children and young adults. It occurs most frequently at the metaphyses of long bones and presents with local pain and swelling. Most cases are associated with sporadic or inherited mutations in—- and TP53 (Li-Fraumeni syndrome).

A

RB1 (hereditary retinoblastoma)

32
Q

Activating mutations of —- are responsible for most cases of hairy cell leukemia, a B-cell neoplasm that typically presents in older patients with pancytopenia, splenomegaly, and systemic symptoms (eg, fatigue, recurrent infections). It is also present in many cases of malignant melanoma

A

BRAF

33
Q

The key growth factors that promote angiogenesis in neoplastic and granulation tissue are vascular endothelial growth factor (VEGF) and —–

A

fibroblast growth factor.

34
Q

hereditary nonpolyposis colon cancer (HNPCC), or Lynch syndrome, an autosomal dominant genetic predisposition to colon cancer. In patients with HNPCC, colon cancer occurs at a young age (age <50). Family history reveals a high incidence of colon cancer and, occasionally, extraintestinal (eg, endometrial) cancers in first-degree relatives.

With HNPCC, there is an inherited mutation in one of the genes responsible for DNA mismatch repair (eg, —-).

A

MSH2, MLH1

35
Q

Inactivation of retinoblastoma protein activity by human papillomavirus can lead to the formation of —- squamous cell carcinoma.

A

head and neck

36
Q

——- are zinc-containing enzymes that degrade components of the extracellular matrix (ECM) and basement membrane, which are composed primarily of laminin and collagens IV and VII. These enzymes participate in many physiologic processes, such as tissue remodeling and embryogenesis. They also facilitate basement membrane penetration, which distinguishes an invasive tumor from carcinoma in situ

A

Metalloproteinases

37
Q

When the humidity and temperature are favorable, specific strains of the fungi Aspergillus flavus and Aspergillus parasiticus grow on foods such as corn, soybeans, and peanuts, producing aflatoxins as a byproduct.

High levels of dietary aflatoxin exposure is associated with a G:C → T:A transversion in codon 249 of the p53 gene, a mutation thought to greatly increase the risk of developing —– carcinoma.

A

hepatocellular

38
Q

Activating mutations of the — gene lead to constitutive activation of the epidermal growth factor receptor (EGFR) pathway, promoting increased cell proliferation and growth. Tumors harboring these mutations are resistant to treatment with anti-EGFR drugs (eg, cetuximab, panitumumab).

A

KRAS

39
Q

—- protooncogene mutation facilitates the growth of adenomas by causing uncontrolled cell proliferation.

A

KRAS

40
Q

FAP is caused by a germline mutation in the tumor suppressor gene adenomatous polyposis coli (APC). Although it is an autosomal dominant disorder, a spontaneous mutation to the other (wild-type) APC gene is required for expression (which usually occurs in the patient’s teens or twenties). APC encodes for a protein that degrades —- Loss of function of the APC protein increases cellular concentrations of beta-catenin, which activates transcriptional proteins that lead to intestinal crypt hyperproliferation; accumulation of subsequent mutations leads to development of polyps.

A

beta-catenin.

41
Q

medullary thyroid cancer (MTC) presenting with a palpable nodule and elevated serum calcitonin. MTC is a neuroendocrine tumor that arises from calcitonin-secreting C (parafollicular) cells. Microscopy shows nests or sheets of —- cells, often with extracellular amyloid deposition (consisting of full-length calcitonin). MTC is often seen in the context of multiple endocrine neoplasia type 2 (A and B), although the majority of cases are sporadic. Paraneoplastic symptoms (eg, diarrhea, flushing) can occur due to elevated calcitonin levels

A

polygonal or spindle-shaped

42
Q

Vimentin is an intermediate filament present in mesenchymal tissue and can be used to detect —

A

sarcomas.

43
Q

Chromogranin A and synaptophysin are markers used for —- tumors.

A

neuroendocrine

44
Q

The HER2 oncogene encodes for a transmembrane glycoprotein with intrinsic —- activity and is a member of the family of epidermal growth factor receptors. Overexpression of this protein is associated with a worse prognosis and increased risk of disease recurrence.

A

tyrosine kinase

45
Q

An essential step in the activation of the cellular immune response to a virus is the breakdown of intracellular viral proteins by the — pathway. This pathway is initiated by ubiquitin ligases, which recognize specific protein substrates and attach a ubiquitin tag. The target proteins are then degraded by a proteasome into peptide fragments, which are coupled with major histocompatibility complex class I proteins and presented on the cell surface for surveillance by cytotoxic CD8+ lymphocytes

A

ubiquitin proteasome

46
Q

BRCA1 and BRCA2 are tumor supressor genes, involved in repair of — breaks.

A

double-stranded DNA

47
Q

A history of sarcoma, leukemia, adrenal, and breast cancer is suggestive of Li-Fraumeni syndrome. Cancers of the brain are also common. The syndrome is the result of an autosomal dominant mutation in —

A

TP53

48
Q

Nuclear factor-kappa B (NF-κB) is a transcription factor with a critical role in the immune response to infection. NF-κB is normally present in the cytoplasm in a latent, inactive state bound to its inhibitor protein, —. Extracellular substances such as lipopolysaccharide can initiate a signal cascade that results in the destruction of IκB and translocation of free NF-κB to the nucleus.

A

IκB

49
Q

Heparin-induced thrombocytopenia and thrombosis results from the production of IgG antibodies against complexes of heparin and platelet factor -. The Fc component of these antibodies binds to platelets, resulting in widespread platelet activation and a prothrombotic state.

Ex) patient with a significant drop in platelet count and acute venous thromboembolism following recent exposure to low molecular weight heparin likely has heparin-induced thrombocytopenia and thrombosis (HITT)

A

4

50
Q

Acquired protein C deficiency occurs early in the course of warfarin therapy, as the inhibition of protein C by warfarin occurs more rapidly than the inhibition of other factors (ie, factors II, VII, IX, X). If not bridged with — when starting therapy, patients may develop warfarin-induced skin necrosis due to localized cutaneous thrombus formation.

A

heparin

51
Q

Thrombotic thrombocytopenic purpura (TTP) results from decreased levels of the von Willebrand factor-cleaving protease —-. The classic presentation of TTP is the pentad of fever, thrombocytopenia, microangiopathic hemolytic anemia, renal insufficiency, and neurologic dysfunction.

A

ADAMTS13

52
Q

Idiopathic thrombocytopenic purpura (ITP) results from splenic destruction of platelets labeled by IgG antibodies to —- receptors. ITP often causes very low platelet levels and is associated with bleeding complications

A

glycoprotein IIb/IIIa

53
Q

Disseminated intravascular coagulation (DIC) can occur with abruptio placentae due to release of —– a procoagulant that activates the coagulation cascade, from the damaged decidua into the maternal circulation. DIC classically presents with thrombocytopenia and bleeding from mucosal surfaces (eg, gums) and intravenous line sites.

A

tissue factor,

54
Q

Amniotic fluid embolism (AFE) introduces fetal antigens and tissue factor from the amniotic fluid into the maternal circulation, triggering a massive immune response and increased release of procoagulant factors that can lead to — However, AFE typically causes maternal circulatory collapse with severe hypotension

A

DIC.

55
Q

An anterior mediastinal mass with elevated serum levels of alpha fetoprotein and β-hCG is classic for a nonseminomatous —- tumor.

A

germ cell

56
Q

Saddle pulmonary embolism straddles the bifurcation of the main pulmonary artery. Venous thromboembolism (ie, pulmonary embolism or deep vein thrombosis) arises due to the Virchow triad of endothelial injury, venous stasis, and a hypercoagulable state. —- causes a hypercoagulable state and is a strong risk factor for venous thromboembolism

A

Malignancy

57
Q

—— classically presents with the pentad of severe thrombocytopenia, microangiopathic hemolytic anemia (eg, schistocytes on peripheral smear), renal insufficiency, neurologic symptoms, and fever. However, all these signs and symptoms are rarely present. Diagnosis is often made by identifying severe deficiency of ADAMTS-13, a protease that cleaves large von Willebrand factor multimers off the endothelium.

Labs: elevated indirect bilirubin level and an undetectable haptoglobin level

Thrombocytopenia (↑ bleeding time, normal PT/PTT)

A

Thrombotic thrombocytopenic purpura

58
Q

Inherited deficiency of —— typically causes hemolytic anemia during times of oxidative stress (eg, infection, medication exposure, certain foods). High bilirubin and low haptoglobin are often present due to hemolytic anemia; however, thrombocytopenia is not seen, and peripheral smear would show bite cells and Heinz bodies

A

glucose-6-phosphate dehydrogenase

59
Q

patient with multiple injuries following a severe motor vehicle accident developed respiratory distress, reduced renal output, and oozing from the catheter and venipuncture sites. This presentation raises strong suspicion for disseminated intravascular coagulation (DIC), a consumptive coagulopathy associated with trauma, sepsis, malignancy, and obstetrical complications.

Will protein c & s, fibrinogen factor 7, antithrombin be increased or decreased?

A

decreased

60
Q

Patient has recurrent epistaxis, ecchymoses, and marked thrombocytopenia (normal 150,000-400,000/mm3). She has a normal hematocrit, leukocyte count and differential, fibrinogen level, and prothrombin time/International Normalized Ratio. She takes no medications, and there is no obvious hepatosplenomegaly on physical examination.

—- platelet destruction is a common cause of thrombocytopenia and should be suspected in patients with ecchymoses, petechiae, mucosal bleeding, and no other obvious causes of thrombocytopenia (eg, medications, bone marrow failure).

A

Autoimmune

61
Q

Excessive bleeding (ex bleeding around the catheter) is common in patients with significant renal dysfunction due in part to the accumulation of — toxins in the circulation. These toxins impair platelet aggregation and adhesion, resulting in a qualitative platelet disorder characterized by prolonged bleeding time with normal platelet count, prothrombin time (PT), and activated partial thromboplastin time (aPTT). Uremic bleeding can be improved with dialysis as it removes the toxins and partially reverses the bleeding abnormality.

A

uremic

62
Q

The major clinical manifestations of factor V Leiden include deep vein thrombosis (DVT), cerebral vein thrombosis, and recurrent pregnancy loss.

One to nine percent of Caucasians worldwide are heterozygote carriers of factor V Leiden, which is modified to resist activated protein C.

Pt with “a single amino acid substitution (glutamine for —-) near the protein C cleavage site in her coagulation factor V gene product.”

A

arginine

63
Q

Up to 30% of patients with SLE have antiphospholipid antibodies, which can cause paradoxical aPTT prolongation and a false-positive RPR/VDRL. Patients with antiphospholipid antibodies are at risk for venous and arterial thromboembolism and unexplained, recurrent —

A

pregnancy loss.

64
Q

Vitamin C (ascorbic acid) is a —- vitamin

Cutaneous signs of scurvy include phrynoderma (perifollicular hyperkeratosis), coiled hair, and poor wound healing. Mucosal findings include bleeding gums and loose teeth. Hemorrhagic complications include ecchymoses and petechiae, hemarthrosis, intramuscular bleeding, and bleeding within the central nervous system, gastrointestinal tract, and genitourinary system. Normocytic, normochromic anemia is typical, while coagulation studies (including PT and PTT) are normal.

A

water soluble

65
Q

Nephrotic syndrome is a hypercoagulable state. Sudden-onset abdominal or flank pain, hematuria, and left-sided varicoceles suggest renal vein thrombosis, a well-known complication of nephrotic syndrome. Loss of anticoagulant factors, especially ——- is responsible for the thrombotic and thromboembolic complications of nephrotic syndrome.

A

antithrombin III,

66
Q

Serum —- is decreased in Wilson disease (hepatolenticular degeneration), which is clinically characterized by liver disease, motor abnormalities, and psychiatric symptoms

A

ceruloplasmin

67
Q

patient’s severe thrombocytopenia and schistocytes on peripheral blood smear indicate microangiopathic hemolytic anemia (MAHA). The presence of normal coagulation studies indicate that there is no systemic activation of the coagulation cascade, which makes disseminated intravascular coagulation unlikely. Therefore, a platelet-activated thrombotic microangiopathy such as thrombotic thrombocytopenic purpura (TTP) or hemolytic uremic syndrome is most likely.

In this case, the patient has 4 of the 5 classic findings of acquired TTP:

Severe thrombocytopenia, which may cause bruising or bleeding

MAHA, which may cause symptomatic anemia (eg, fatigue, dyspnea on exertion)

Renal damage, which may cause renal insufficiency (eg, elevated creatinine) and mild proteinuria

Neurologic damage, which may cause confusion, headache, and transient focal findings (eg, numbness, weakness)

Fever (not present)

Acquired TTP occurs due to the formation of an autoantibody inhibitor against ADAMTS-13, a —-–cleaving protease.

A

von Willebrand factor (vWF)

68
Q

Reactive —- is the most common cause of elevated platelet count in all age groups. It is generally caused by high levels of inflammatory cytokines (eg, IL-6), which prompt the liver to release thrombopoietin, which triggers megakaryocyte proliferation and maturation in the bone marrow.. Reactive thrombocytosis is seen in chronic infection, rheumatologic disease, and burns; it can also occur with hemolysis and iron deficiency anemia.

Elevated circulating levels of inflammatory cytokines also trigger the liver to generate hepcidin, which down-regulates iron absorption in the gut and iron release by the reticuloendothelial system; this frequently leads to concurrent anemia of chronic disease (normocytic anemia) due to reduced iron availability for reticulocytosis.

A

thrombocytosis

69
Q

—- bodies are round, dark, purple/red inclusions within erythrocytes. These represent nuclear fragments that are typically removed by the spleen; they can be seen in patients with splenectomy or reduced splenic function (eg, sickle cell)

A

Howell-Jolly

70
Q

Hemolytic uremic syndrome (HUS) manifests with acute kidney injury, microangiopathic hemolytic anemia, and thrombocytopenia. Characteristic laboratory abnormalities include increased or decreased hemoglobin, haptoglobin and platelet count and increased bleeding time, lactate dehydrogenase, indirect bilirubin, blood urea nitrogen, and creatinine.

A

decreased hemoglobin, haptoglobin and platelet count

increased bleeding time, lactate dehydrogenase, indirect bilirubin, blood urea nitrogen, and creatinine