Qualitative Flashcards

*Question: What glycoprotein complex is deficient or abnormal in Glanzmann Thrombasthenia?

A) GPIb/IX/V

B) GPIIb/IIIa (Integrin αIIβ3)

C) GPIa/IIa

D) GPIV

*Answer: B) GPIIb/IIIa (Integrin αIIβ3)

*Question: What is the mode of inheritance of Glanzmann Thrombasthenia?

A) Autosomal dominant

B) X-linked recessive

C) Autosomal recessive

D) X-linked dominant

*Answer: C) Autosomal recessive

*Question: Which genes are mutated in Glanzmann Thrombasthenia?

A) GP1BA and GP1BB

B) NBEAL2 and GFI1B

C) ITGA2B and ITGB3

D) LYST and HPS1

*Answer: C) ITGA2B and ITGB3

*Question: On which chromosome are the ITGA2B/ITGB3 genes located in Glanzmann Thrombasthenia?

A) Chromosome 22

B) Chromosome 17

C) Chromosome 3

D) Chromosome 10

*Answer: B) Chromosome 17

*Question: What is the clinical consequence of GPIIb/IIIa deficiency in Glanzmann Thrombasthenia?

A) Failure of platelet adhesion to collagen

B) Failure of fibrinogen binding leading to defective hemostatic plug formation

C) Inability to bind vWF

D) Defective granule release

*Answer: B) Failure of fibrinogen binding leading to defective hemostatic plug formation

*Question: What type of bleeding is characteristic of Glanzmann Thrombasthenia?

A) Hemarthrosis

B) Deep muscle hematomas

C) Mucocutaneous bleeding

D) Intracranial hemorrhage

*Answer: C) Mucocutaneous bleeding

*Question: What is the platelet count and morphology in Glanzmann Thrombasthenia?

A) Decreased count with giant platelets

B) Normal count and morphology

C) Increased count with small platelets

D) Decreased count with normal morphology

*Answer: B) Normal count and morphology

*Question: In Glanzmann Thrombasthenia, what is the aggregation response to ADP, collagen, epinephrine, and thrombin?

A) Normal aggregation to all agents

B) Decreased aggregation to ADP only

C) Lack of aggregation to all platelet activating agents

D) Increased aggregation to all agents

*Answer: C) Lack of aggregation to all platelet activating agents

*Question: What is the treatment for Glanzmann Thrombasthenia?

A) Splenectomy

B) Transfusion of normal platelets; avoidance of anticoagulants and antiplatelets

C) Hematopoietic stem cell transplant

D) Corticosteroid therapy

*Answer: B) Transfusion of normal platelets; avoidance of anticoagulants and antiplatelets

*Question: What glycoprotein complex is deficient or abnormal in Bernard-Soulier Syndrome?

A) GPIIb/IIIa

B) GPIa/IIa

C) GPIb/IX/V

D) GPVI

*Answer: C) GPIb/IX/V

*Question: What is the most frequent form of defect seen in Bernard-Soulier Syndrome?

A) Defects in GPIIb synthesis

B) Defects in GPIbα synthesis or expression

C) Defects in GPVI expression

D) Defects in GPIa/IIa

*Answer: B) Defects in GPIbα synthesis or expression

*Question: What is the mode of inheritance of Bernard-Soulier Syndrome?

A) Autosomal dominant

B) X-linked recessive

C) Autosomal recessive

D) Mitochondrial

*Answer: C) Autosomal recessive

*Question: In Bernard-Soulier Syndrome, heterozygotes have what level of GPIb/IX/V?

A) 0% of normal

B) 25% of normal

C) 50% of normal

D) 75% of normal

*Answer: C) 50% of normal

*Question: What are the hallmark findings in homozygotes with Bernard-Soulier Syndrome?

A) Small platelets and thrombocytosis

B) Enlarged platelets, thrombocytopenia, and decreased platelet survival

C) Normal platelet size with thrombocytopenia

D) Large platelets with thrombocytosis

*Answer: B) Enlarged platelets, thrombocytopenia, and decreased platelet survival

*Question: What is the size of platelets seen on peripheral blood smear in Bernard-Soulier Syndrome?

A) 1-2 µm

B) 2-4 µm

C) 5-8 µm (up to 20 µm)

D) 10-12 µm only

*Answer: C) 5-8 µm (up to 20 µm)

*Question: What is the platelet count range typically seen in Bernard-Soulier Syndrome?

A) 5,000-20,000/µL

B) 40,000/µL to near normal

C) 150,000-400,000/µL

D) 500,000-1,000,000/µL

*Answer: B) 40,000/µL to near normal

*Question: What is the pathophysiology of Bernard-Soulier Syndrome?

A) Inability of platelets to bind fibrinogen

B) Inability of platelets to bind vWF and adhere to exposed subendothelium

C) Defective TXA2 production

D) Defective ADP receptor signaling

*Answer: B) Inability of platelets to bind vWF and adhere to exposed subendothelium

*Question: What is the laboratory finding specific to Bernard-Soulier Syndrome regarding ristocetin?

A) Normal response to ristocetin

B) Increased response to ristocetin

C) Does not respond to ristocetin and has diminished response to thrombin

D) Decreased response to ADP only

*Answer: C) Does not respond to ristocetin and has diminished response to thrombin

*Question: What is the aggregation response to ADP, epinephrine, and arachidonic acid (AA) in Bernard-Soulier Syndrome?

A) Absent

B) Decreased

C) Normal

D) Markedly increased

*Answer: C) Normal

*Question: What is the treatment of choice for Bernard-Soulier Syndrome?

A) Splenectomy

B) Platelet transfusion

C) Hematopoietic stem cell transplant

D) Corticosteroids

*Answer: B) Platelet transfusion

*Question: Which therapy is useful in treating mucosal bleeding in Bernard-Soulier Syndrome?

A) Antiplatelet therapy

B) Anticoagulant therapy

C) Antifibrinolytic therapy

D) Immunosuppressive therapy

*Answer: C) Antifibrinolytic therapy

*Question: What is the purpose of using leukoreduced platelets in Bernard-Soulier Syndrome treatment?

A) To increase platelet count faster

B) To minimize the risk of alloimmunization

C) To prevent viral transmission

D) To enhance platelet aggregation

*Answer: B) To minimize the risk of alloimmunization

*Question: Which inherited giant platelet syndrome is associated with velopharyngeal insufficiency and conotruncal heart disease?

A) May-Hegglin anomaly

B) Fechtner syndrome

C) Giant platelets with velocardiofacial syndrome

D) Epstein syndrome

*Answer: C) Giant platelets with velocardiofacial syndrome

*Question: Which inherited giant platelet syndrome is associated with Döhle-like neutrophil inclusions and autosomal dominant inheritance?

A) Sebastian syndrome

B) May-Hegglin anomaly

C) Fechtner syndrome

D) Hereditary macrothrombocytopenia

*Answer: B) May-Hegglin anomaly

*Question: Which giant platelet syndrome is associated with deafness, cataracts, and nephritis?

A) Epstein syndrome

B) Sebastian syndrome

C) May-Hegglin anomaly

D) Fechtner syndrome

*Answer: D) Fechtner syndrome

*Question: Which giant platelet syndrome is associated with nephritis, high-frequency hearing loss, and proteinuria?

A) Fechtner syndrome

B) Hereditary macrothrombocytopenia

C) Epstein syndrome

D) Sebastian syndrome

*Answer: C) Epstein syndrome

*Question: What is the most common type of hereditary platelet function defect?

A) Aggregation defects

B) Adhesion defects

C) Storage pool and release reaction defects

D) Receptor and signaling defects

*Answer: C) Storage pool and release reaction defects

*Question: Which of the following is NOT a dense granule deficiency disorder?

A) Hermansky-Pudlak Syndrome

B) Gray Platelet Syndrome

C) Wiskott-Aldrich Syndrome

D) Chédiak-Higashi Syndrome

*Answer: B) Gray Platelet Syndrome

*Question: Hermansky-Pudlak Syndrome is characterized by which triad?

A) Eczema, thrombocytopenia, immunodeficiency

B) Albinism, bleeding diathesis, and lung fibrosis

C) Partial albinism, bacterial infections, giant granules

D) Thrombocytopenia, absent radii, dense granule defects

*Answer: B) Albinism, bleeding diathesis, and lung fibrosis

*Question: What type of albinism is seen in Hermansky-Pudlak Syndrome?

A) Partial oculocutaneous albinism

B) Tyrosine-positive oculocutaneous albinism

C) Ocular albinism only

D) Cutaneous albinism only

*Answer: B) Tyrosine-positive oculocutaneous albinism

*Question: Which genes are mutated in Hermansky-Pudlak Syndrome?

A) LYST

B) WAS gene

C) HPS1, HPS3, HPS6, and others

D) NBEAL2

*Answer: C) HPS1, HPS3, HPS6, and others

*Question: What is the mode of inheritance of Hermansky-Pudlak Syndrome?

A) Autosomal dominant

B) X-linked recessive

C) Autosomal recessive

D) X-linked dominant

*Answer: C) Autosomal recessive

*Question: What is a notable increased risk associated with Hermansky-Pudlak Syndrome?

A) Progressive neuropathy

B) Hemophagocytic lymphohistiocytosis

C) Progressive interstitial pulmonary fibrosis

D) Recurrent bacterial infections

*Answer: C) Progressive interstitial pulmonary fibrosis

*Question: What geographic population is Hermansky-Pudlak Syndrome commonly found in?

A) East Asians

B) Sub-Saharan Africans

C) Puerto Ricans

D) Mediterranean populations

*Answer: C) Puerto Ricans

*Question: Which gene is mutated in Chédiak-Higashi Syndrome?

A) HPS1

B) LYST (lysosomal trafficking regulator)

C) WAS

D) NBEAL2

*Answer: B) LYST (lysosomal trafficking regulator)

*Question: What is the characteristic laboratory finding in Chédiak-Higashi Syndrome?

A) Absent dense granules in platelets

B) Giant granules in leukocytes and platelets

C) Microthrombocytes

D) Gray-appearing platelets on Wright stain

*Answer: B) Giant granules in leukocytes and platelets

*Question: What immune manifestation is unique to Chédiak-Higashi Syndrome (not HPS)?

A) Pulmonary fibrosis

B) Granulomatous colitis

C) Hemophagocytic lymphohistiocytosis (HLH) and recurrent bacterial infections

D) Autoinflammation only

*Answer: C) Hemophagocytic lymphohistiocytosis (HLH) and recurrent bacterial infections

*Question: What is the management for Chédiak-Higashi Syndrome?

A) Supportive care

B) Corticosteroid therapy

C) Splenectomy

D) Hematopoietic stem cell transplant

*Answer: D) Hematopoietic stem cell transplant

*Question: What is the mechanism shared by both Chédiak-Higashi and Hermansky-Pudlak Syndromes?

A) Defective collagen production

B) Impaired biogenesis and trafficking of lysosome-related organelles (LROs)

C) Defective actin cytoskeleton remodeling

D) Defective TXA2 synthesis

*Answer: B) Impaired biogenesis and trafficking of lysosome-related organelles (LROs)

*Question: What is a unique "other" finding of Chédiak-Higashi Syndrome not shared with HPS?

A) Pulmonary fibrosis

B) Progressive neuropathy

C) Granulomatous colitis

D) Hearing loss

*Answer: B) Progressive neuropathy

*Question: Wiskott-Aldrich Syndrome is caused by mutations in which gene?

A) LYST

B) HPS1

C) WAS gene on chromosome Xp11.23

D) NBEAL2

*Answer: C) WAS gene on chromosome Xp11.23

*Question: What protein does the WAS gene encode for, and what is its function?

A) GPIIb/IIIa — platelet aggregation

B) WASp — actin cytoskeleton remodeling

C) LYST — lysosomal trafficking

D) NBEAL2 — alpha granule formation

*Answer: B) WASp — actin cytoskeleton remodeling

*Question: What is the inheritance pattern of Wiskott-Aldrich Syndrome?

A) Autosomal recessive

B) Autosomal dominant

C) X-linked (rare X-linked disease)

D) Mitochondrial

*Answer: C) X-linked (rare X-linked disease)

*Question: What is the classic triad of Wiskott-Aldrich Syndrome?

A) Albinism, bleeding, lung fibrosis

B) Eczema, thrombocytopenia, immunodeficiency

C) Giant platelets, thrombocytopenia, deafness

D) Absent radii, dense granule defects, thrombocytopenia

*Answer: B) Eczema, thrombocytopenia, immunodeficiency

*Question: What is the diagnostic hallmark of Wiskott-Aldrich Syndrome on peripheral blood smear?

A) Giant platelets

B) Gray platelets

C) Microthrombocytes (TORCH = small platelets)

D) Target cells

*Answer: C) Microthrombocytes (TORCH = small platelets)

*Question: What is the most effective treatment for Wiskott-Aldrich Syndrome?

A) Platelet transfusion

B) Splenectomy

C) Corticosteroids

D) Antifibrinolytic therapy

*Answer: B) Splenectomy

*Question: What are the platelet aggregation findings in Wiskott-Aldrich Syndrome?

A) Normal aggregation to all agonists

B) Decreased aggregation to ADP, collagen, and epinephrine; lack of secondary wave; normal response to thrombin

C) Absent aggregation to all agonists

D) Decreased aggregation to thrombin only

*Answer: B) Decreased aggregation to ADP, collagen, and epinephrine; lack of secondary wave; normal response to thrombin

*Question: TAR Syndrome is characterized by the congenital absence of which bones?

A) Ulnar bones

B) Radial bones

C) Femoral bones

D) Humeral bones

*Answer: B) Radial bones

*Question: What platelet finding is seen in TAR Syndrome?

A) Microthrombocytes

B) Gray platelets

C) Structural defects in dense granules with abnormal aggregation

D) Large platelets with absent alpha granules

*Answer: C) Structural defects in dense granules with abnormal aggregation

*Question: What is the inheritance pattern of TAR Syndrome?

A) Autosomal dominant

B) X-linked recessive

C) Autosomal recessive

D) Mitochondrial

*Answer: C) Autosomal recessive

*Question: Gray Platelet Syndrome is characterized by the specific absence of which granules?

A) Dense granules

B) Alpha (α) granules

C) Lysosomes

D) Peroxisomes

*Answer: B) Alpha (α) granules

*Question: What gene mutation is associated with Gray Platelet Syndrome?

A) LYST at 1q42.3

B) WAS at Xp11.23

C) NBEAL2 at region 3p21.31

D) HPS1 at 10p22

*Answer: C) NBEAL2 at region 3p21.31

*Question: When was Gray Platelet Syndrome first described?

A) 1955

B) 1971

C) 1985

D) 1990

*Answer: B) 1971

*Question: What is the appearance of platelets in Gray Platelet Syndrome on Wright-stained blood film?

A) Small, dark platelets

B) Large gray-appearing platelets

C) Normal-appearing platelets

D) Fragmented platelets

*Answer: B) Large gray-appearing platelets

*Question: What is the treatment for Gray Platelet Syndrome?

A) Splenectomy

B) Hematopoietic stem cell transplant

C) Platelet transfusions and cryoprecipitate to control bleeding

D) Corticosteroids

*Answer: C) Platelet transfusions and cryoprecipitate to control bleeding

*Question: Quebec Platelet Disorder is associated with deficiency of which protein?

A) GPIIb/IIIa

B) Multimerin (a multimeric protein complexed with factor V in α-granules)

C) GPIb/IX/V

D) NBEAL2

*Answer: B) Multimerin (a multimeric protein complexed with factor V in α-granules)

*Question: What is the inheritance pattern of Quebec Platelet Disorder?

A) Autosomal recessive

B) X-linked

C) Autosomal dominant

D) Mitochondrial

*Answer: C) Autosomal dominant

*Question: In the TXA2 pathway, which enzyme do aspirin and ibuprofen inhibit?

A) Phospholipase A2

B) TXA2 Synthase

C) Cyclooxygenase (COX-1)

D) Adenylate cyclase

*Answer: C) Cyclooxygenase (COX-1)

*Question: Which antiplatelet drug irreversibly inhibits COX-1?

A) Naproxen

B) Ibuprofen

C) Aspirin

D) Ticagrelor

*Answer: C) Aspirin

*Question: Which drugs irreversibly inhibit ADP P2Y12 receptors?

A) Ticagrelor and Cangrelor

B) Clopidogrel and Prasugrel

C) Abciximab and Eptifibatide

D) Dipyridamole and Aggrenox

*Answer: B) Clopidogrel and Prasugrel

*Question: Which drug targets the Thrombin PAR-1 receptor?

A) Abciximab

B) Tirofiban

C) Vorapaxar

D) Dipyridamole

*Answer: C) Vorapaxar

*Question: Which drugs target GPIIb/IIIa as antiplatelet therapy?

A) Clopidogrel, Prasugrel, Ticagrelor

B) Aspirin, Naproxen, Ibuprofen

C) Abciximab, Eptifibatide, Tirofiban

D) Dipyridamole, Aggrenox

*Answer: C) Abciximab, Eptifibatide, Tirofiban

*Question: What is the most frequent cause of acquired platelet dysfunction?

A) Uremia

B) Drug ingestion

C) Myeloproliferative neoplasms

D) Liver disease

*Answer: B) Drug ingestion

*Question: Which of the following is NOT listed as a medical condition causing acquired qualitative platelet disorder?

A) Myeloproliferative neoplasms

B) Liver disease

C) Uremia

D) Hypothyroidism

*Answer: D) Hypothyroidism

*Question: A deficiency of the collagen receptor α-2β1 (GPIa/IIa) results in which of the following?

A) Inability to bind fibrinogen

B) Lack of aggregation, inability to adhere to collagen, and lifelong mild bleeding

C) Inability to respond to ADP

D) Defective TXA2 production

*Answer: B) Lack of aggregation, inability to adhere to collagen, and lifelong mild bleeding

*Question: An inherited deficiency of the P2Y12 receptor causes which of the following?

A) Decreased platelet aggregation in response to ADP with normal shape change and calcium mobilization

B) Decreased aggregation in response to collagen only

C) Absent aggregation to all agonists

D) Giant platelets with thrombocytopenia

*Answer: A) Decreased platelet aggregation in response to ADP with normal shape change and calcium mobilization

*Question: Vascular disorders are characterized by what typical laboratory finding?

A) Decreased platelet count

B) Prolonged PT and aPTT

C) Normal platelets and blood coagulation

D) Elevated fibrin degradation products

*Answer: C) Normal platelets and blood coagulation

*Question: How are vascular disorders diagnosed?

A) Flow cytometry

B) Platelet aggregation studies

C) Based on medical history

D) Bone marrow biopsy

*Answer: C) Based on medical history

*Question: What is the clinical sign of vascular disorders?

A) Hemarthrosis and deep muscle hematomas

B) Tendency to bruise easily or bleed spontaneously, especially from mucosal surfaces

C) Prolonged clotting time only

D) Petechiae only

*Answer: B) Tendency to bruise easily or bleed spontaneously, especially from mucosal surfaces

*Question: Hereditary Hemorrhagic Telangiectasia (HHT) is also known as which syndrome?

A) Kasabach-Merritt Syndrome

B) Osler-Weber-Rendu Syndrome

C) Ehlers-Danlos Syndrome

D) Epstein Syndrome

*Answer: B) Osler-Weber-Rendu Syndrome

*Question: What is the inheritance pattern of Hereditary Hemorrhagic Telangiectasia?

A) Autosomal recessive

B) X-linked recessive

C) Autosomal dominant

D) Mitochondrial

*Answer: C) Autosomal dominant

*Question: What is the universal finding in Hereditary Hemorrhagic Telangiectasia?

A) Hemarthrosis

B) Epistaxis

C) GI bleeding

D) Petechiae

*Answer: B) Epistaxis

*Question: Telangiectasias in HHT are described as which of the following?

A) Large deep venous malformations

B) Dilated superficial blood vessels creating small focal red lesions that blanch with pressure

C) Arteriovenous fistulas in deep organs only

D) Non-blanching petechiae

*Answer: B) Dilated superficial blood vessels creating small focal red lesions that blanch with pressure

*Question: HHT is the most common cause of which complication?

A) Intracranial hemorrhage

B) GI bleeding

C) Pulmonary arteriovenous malformation

D) Renal failure

*Answer: C) Pulmonary arteriovenous malformation

*Question: Kasabach-Merritt Syndrome involves the association of which three features?

A) Albinism, thrombocytopenia, lung fibrosis

B) Giant cavernous hemangioma, thrombocytopenia, and bleeding tendency leading to DIC

C) Eczema, thrombocytopenia, immunodeficiency

D) Absent radii, thrombocytopenia, dense granule defects

*Answer: B) Giant cavernous hemangioma, thrombocytopenia, and bleeding tendency leading to DIC

*Question: What is the mortality rate of Kasabach-Merritt Syndrome?

A) 5%

B) 15%

C) 30%

D) 50%

*Answer: C) 30%

*Question: What is the treatment for Kasabach-Merritt Syndrome?

A) Splenectomy

B) Platelet transfusion

C) Corticosteroid therapy (though none is completely effective)

D) Hematopoietic stem cell transplant

*Answer: C) Corticosteroid therapy (though none is completely effective)

*Question: Ehlers-Danlos Syndrome has what inheritance pattern?

A) Always autosomal dominant

B) Always X-linked

C) Can be autosomal dominant, recessive, or X-linked

D) Always autosomal recessive

*Answer: C) Can be autosomal dominant, recessive, or X-linked

*Question: What is the underlying defect in Ehlers-Danlos Syndrome?

A) Defective fibrinogen production

B) Defective collagen production, structure, or cross-linking

C) Defective elastin synthesis only

D) Defective TXA2 pathway

*Answer: B) Defective collagen production, structure, or cross-linking

*Question: Which of the following is NOT an inherited vascular disorder related to Ehlers-Danlos?

A) Pseudoxanthoma elasticum

B) Marfan syndrome

C) Homocystinuria

D) Henoch-Schönlein Purpura

*Answer: D) Henoch-Schönlein Purpura

*Question: Allergic Purpura (Henoch-Schönlein Purpura) is most commonly a disease of which age group?

A) Neonates

B) Children aged 3-7 years old

C) Adults aged 30-50 years old

D) Elderly over 70 years old

*Answer: B) Children aged 3-7 years old

*Question: Senile Purpura occurs more commonly in which population?

A) Young women

B) Children

C) Elderly men more than women

D) Middle-aged men equally with women

*Answer: C) Elderly men more than women

*Question: What is the pathophysiology of Senile Purpura?

A) Increased platelet destruction

B) Defective coagulation factors

C) Lack of collagen support for small blood vessels and loss of subcutaneous fat and elastic fibers

D) Autoimmune destruction of vessel walls

*Answer: C) Lack of collagen support for small blood vessels and loss of subcutaneous fat and elastic fibers

*Question: In Amyloidosis, what is amyloid and what does its extracellular deposition cause?

A) Amyloid is a lipid; causes vessel narrowing

B) Amyloid consists of rigid, non-branching aggregated fibrils (7.5-10 nm); extracellular deposition may lead to damage of normal tissue

C) Amyloid is a carbohydrate; causes platelet hyperactivation

D) Amyloid is a nucleic acid; causes immune activation

*Answer: B) Amyloid consists of rigid, non-branching aggregated fibrils (7.5-10 nm); extracellular deposition may lead to damage of normal tissue

*Question: What is the treatment for Amyloidosis causing vascular disorder?

A) Platelet transfusion

B) Splenectomy

C) Chemotherapy with allogenic stem cell transplantation

D) Corticosteroids alone

*Answer: C) Chemotherapy with allogenic stem cell transplantation