Notes in 52) Hemophilias

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Published	06/12/2025	1) What is the literal meaning of the term hemophilia?
Published	06/12/2025	2) Which major clotting factors are deficient in Hemophilia A, B, and C?
Published	06/12/2025	3) Which two key processes comprise normal hemostasis?
Published	06/12/2025	4) What type of bleeding (deep vs. surface) usually suggests a clotting factor deficiency rather than a platelet problem?
Published	06/12/2025	5) How does impaired primary hemostasis typically manifest clinically?
Published	06/12/2025	6) A patient with normal platelet count, normal PT, but prolonged aPTT is most likely to have what general category of defect?
Published	06/12/2025	7) Which lab test predominantly reflects the intrinsic pathway of coagulation?
Published	06/12/2025	8) Which lab test predominantly reflects the extrinsic pathway of coagulation?
Published	06/12/2025	9) Why might von Willebrand disease prolong both bleeding time and aPTT?
Published	06/12/2025	10) Why does hemophilia typically cause delayed bleeding rather than immediate bleeding?
Published	06/12/2025	11) Which hemophilia is nicknamed “classic hemophilia” and is the most common?
Published	06/12/2025	12) Hemophilia A follows what inheritance pattern, and which sex is predominantly affected?
Published	06/12/2025	13) What is the approximate frequency of Hemophilia A in male births?
Published	06/12/2025	14) What percentage of Hemophilia A cases arise from a new spontaneous mutation (no family history)?
Published	06/12/2025	15) How does factor VIII deficiency disrupt the clotting cascade mechanistically?
Published	06/12/2025	16) Name a common early-life clinical clue for severe Hemophilia A.
Published	06/12/2025	17) What is the hallmark musculoskeletal manifestation of hemophilia?
Published	06/12/2025	18) If a toddler repeatedly presents with knee swelling and pain after minor trauma, which disorder should you suspect?
Published	06/12/2025	19) Does Hemophilia A typically cause mucosal bleeds and petechiae?
Published	06/12/2025	20) Why do hemophiliacs experience normal immediate bleeding control but then prolonged bleeding?
Published	06/12/2025	21) What is the expected result of a mixing study in a patient with Hemophilia A?
Published	06/12/2025	22) What is the treatment for an acute Hemophilia A bleed?
Published	06/12/2025	23) In mild Hemophilia A, which medication can be used to boost endogenous factor VIII levels?
Published	06/12/2025	24) Does Desmopressin help in Hemophilia B? Why or why not?
Published	06/12/2025	25) What is the main long-term complication of recurrent hemarthroses in hemophilia?
Published	06/12/2025	26) Historically, why were many older hemophilia patients at risk for HIV and hepatitis C?
Published	06/12/2025	27) How does Hemophilia A inheritance typically show up in a family pedigree?
Published	06/12/2025	28) If a hemophiliac stops responding to factor VIII infusions and the PTT remains prolonged in a mixing study, what is the likely cause?
Published	06/12/2025	29) Which deficiency characterizes Hemophilia B?
Published	06/12/2025	30) What is another name for Hemophilia B, and why is it called that?
Published	06/12/2025	31) In terms of clinical presentation, how does Hemophilia B compare to Hemophilia A?
Published	06/12/2025	32) What is the inheritance pattern of Hemophilia B?
Published	06/12/2025	33) Which factor concentrate is used to treat Hemophilia B?
Published	06/12/2025	34) Which hemophilia is sometimes called “the royal disease” due to its prevalence in European royalty?
Published	06/12/2025	35) Why might an exam question mention that desmopressin failed to help a hemophiliac?
Published	06/12/2025	36) Name a promising new therapy approach that has been successful especially in Hemophilia B.
Published	06/12/2025	37) Which factor is deficient in Hemophilia C?
Published	06/12/2025	38) What is the inheritance pattern of Hemophilia C?
Published	06/12/2025	39) Which population is especially affected by Hemophilia C?
Published	06/12/2025	40) Compared to Hemophilia A/B, how severe is Hemophilia C typically?
Published	06/12/2025	41) Do patients with Hemophilia C commonly experience spontaneous hemarthroses?
Published	06/12/2025	42) If a woman with no prior bleeding history has major bleeding after dental surgery and labs show prolonged aPTT, which factor deficiency could this…
Published	06/12/2025	43) In Hemophilia C, why might factor XI levels not correlate perfectly with bleeding severity?
Published	06/12/2025	44) What is the mainstay treatment for significant bleeding in Hemophilia C?
Published	06/12/2025	45) Which test corrects the aPTT in Hemophilia C, distinguishing it from an acquired inhibitor?
Published	06/12/2025	46) Is Hemophilia C limited to males only?
Published	06/12/2025	47) Which bleeding disorder is considered the most common inherited bleeding disorder overall?
Published	06/12/2025	48) Which protein is defective or deficient in von Willebrand disease?
Published	06/12/2025	49) Why does vWF deficiency affect both platelet function and coagulation factor activity?
Published	06/12/2025	50) Which inheritance pattern is most common for vWD?
Published	06/12/2025	51) Name the three major types of von Willebrand disease.
Published	06/12/2025	52) In which vWD type might a patient actually have hemarthroses resembling hemophilia?
Published	06/12/2025	53) What are typical clinical manifestations of mild vWD (Type 1)?
Published	06/12/2025	54) Why is menorrhagia a common complaint among women with vWD?
Published	06/12/2025	55) A teenager with frequent epistaxis, easy bruising, and heavy menstrual periods—what diagnosis should be strongly considered?
Published	06/12/2025	56) In mild vWD, which lab test is typically prolonged, reflecting defective platelet plug formation?
Published	06/12/2025	57) How does vWD often affect aPTT, and why?
Published	06/12/2025	58) Which specific assay is key to diagnosing vWD by testing vWF-platelet interaction?
Published	06/12/2025	59) In a patient with suspected vWD, why might PT be normal while aPTT is prolonged?
Published	06/12/2025	60) How might Type 2N von Willebrand disease mimic Hemophilia A?
Published	06/12/2025	61) What first-line medication can be used to treat mild vWD by releasing stored vWF and VIII?
Published	06/12/2025	62) Why do vWD Type 3 patients not respond to Desmopressin therapy?
Published	06/12/2025	63) Which therapy is required for severe vWD or those who do not respond to DDAVP?
Published	06/12/2025	64) Name an antifibrinolytic agent that helps control mucosal bleeding in vWD.
Published	06/12/2025	65) If a woman with vWD is about to undergo major surgery, what prophylactic measures can be taken?
Published	06/12/2025	66) Compare inheritance patterns of Hemophilia A/B vs. typical vWD.
Published	06/12/2025	67) What is a classic lab clue differentiating platelet-type bleeding from factor deficiency bleeding?
Published	06/12/2025	68) Why might a patient with vWD have affected male and female relatives, while a Hemophilia A patient might only have affected male relatives?
Published	06/12/2025	69) A big difference: which disorder commonly presents with joint bleeds, Hemophilia A/B or vWD Type 1?
Published	06/12/2025	70) In which scenario is a normal platelet count with frequent nosebleeds more suggestive of vWD than Hemophilia?
Published	06/12/2025	71) A high-yield phrase for exam questions: “Mixing study does not correct the prolonged aPTT.” What does this imply?
Published	06/12/2025	72) What is “acquired hemophilia” typically referring to?
Published	06/12/2025	73) In which populations do we often see acquired hemophilia A?
Published	06/12/2025	74) How does acquired hemophilia A typically present in someone who never bled abnormally before?
Published	06/12/2025	75) Why is hemarthrosis less common in acquired hemophilia than in congenital hemophilia?
Published	06/12/2025	76) If a postpartum woman with no bleeding history suddenly has massive hematomas and an aPTT of 90 sec that fails to correct with mixing, what should…
Published	06/12/2025	77) Why does mixing study fail to correct aPTT in acquired hemophilia?
Published	06/12/2025	78) How do we treat acute bleeding episodes in acquired hemophilia when factor VIII infusions are neutralized?
Published	06/12/2025	79) Beyond controlling bleeds, what is the mainstay therapy for acquired hemophilia?
Published	06/12/2025	80) What other condition can prolong aPTT but is paradoxically associated with thrombosis, not bleeding?
Published	06/12/2025	81) List two other acquired conditions that might prolong both PT and aPTT rather than just aPTT.
Published	06/12/2025	82) What is the function of factor VIII in the coagulation cascade?
Published	06/12/2025	83) Where is von Willebrand factor primarily produced?
Published	06/12/2025	84) Which factor deficiency is commonly asymptomatic but prolongs aPTT and does not cause bleeding?
Published	06/12/2025	85) Which lab finding helps distinguish Bernard-Soulier syndrome from vWD if both show abnormal ristocetin test?
Published	06/12/2025	86) A pregnant patient with mild Hemophilia A might see improved factor VIII levels. Why?
Published	06/12/2025	87) Which deficiency accounts for ~80% of all hemophilia cases worldwide?
Published	06/12/2025	88) Why is Hemophilia B less common than Hemophilia A?
Published	06/12/2025	89) What inheritance pattern might you suspect if both male and female siblings share a bleeding disorder in the same generation?
Published	06/12/2025	90) In general, how do you differentiate clinically between Hemophilia A and B?
Published	06/12/2025	91) A normal PT with an isolated prolonged aPTT in a young boy with deep bleeds: top differential diagnoses?
Published	06/12/2025	92) Why might a severe Hemophilia A patient have no family history?
Published	06/12/2025	93) Which factor is protective of factor VIII in the circulation?
Published	06/12/2025	94) In vWD, which subunit’s deficiency disrupts platelet adhesion the most?
Published	06/12/2025	95) Which organ is responsible for producing most clotting factors (except vWF, largely)?
Published	06/12/2025	96) Why might a female carrier of Hemophilia A show mild symptoms sometimes?
Published	06/12/2025	97) Name the hallmark triad for a typical platelet disorder.
Published	06/12/2025	98) A big difference: does mixing study correct in Hemophilia A or B?
Published	06/12/2025	99) What test is abnormal in vWD but usually normal in Hemophilia?
Published	06/12/2025	100) Why might factor VIII deficiency lead to an isolated prolonged aPTT but normal PT?
Published	06/12/2025	101) Which type of vWD often shows significant reduction in high molecular weight multimers and is an autosomal dominant variant?
Published	06/12/2025	102) How does factor IX deficiency (Hem B) inheritance differ from father to daughter vs. father to son?
Published	06/12/2025	103) Name two major autoantibodies that can cause an isolated prolonged aPTT.
Published	06/12/2025	104) A child has repeated hemarthroses, normal platelet count, prolonged aPTT that corrects with mixing. This strongly suggests what?
Published	06/12/2025	105) Why might a patient with Hemophilia A or B be advised to avoid contact sports?
Published	06/12/2025	106) Which factor is also called antihemophilic factor?
Published	06/12/2025	107) What are Weibel-Palade bodies?
Published	06/12/2025	108) What might be a typical factor VIII level in severe Hemophilia A?
Published	06/12/2025	109) Can a female have Hemophilia A/B in rare circumstances?
Published	06/12/2025	110) Which type of vWD is often mistaken for Hemophilia A because of severely low factor VIII?
Published	06/12/2025	111) Which disease is known as “Rosenthal syndrome”?
Published	06/12/2025	112) Why might factor VII deficiency prolong PT but not aPTT?
Published	06/12/2025	113) What is the usual cause for short lifespan historically in hemophiliacs before modern factor concentrates?
Published	06/12/2025	114) Besides major bleeds, what lesser-known site can spontaneously bleed in severe hemophilia?
Published	06/12/2025	115) Which condition might an elderly man with no prior bleeding history develop if he suddenly has factor VIII deficiency?
Published	06/12/2025	116) Why do some postpartum women spontaneously develop factor VIII inhibitors?
Published	06/12/2025	117) What is the typical first-line immunosuppressive regimen for acquired hemophilia?
Published	06/12/2025	118) Compare treatment of mild Hem A vs. moderate-to-severe Hem A.
Published	06/12/2025	119) Which disorder is known to be the most frequent cause of inherited platelet-function defect? (Trick question hinting at vWF)
Published	06/12/2025	120) In a mixing study, if the aPTT corrects initially but becomes prolonged after incubation, what does that suggest?
Published	06/12/2025	121) Which USMLE high-yield scenario often accompanies vWD in a young female?
Published	06/12/2025	122) For mild vWD, which nasal spray formulation might be used prophylactically for dental procedures?
Published	06/12/2025	123) If factor VIII activity is normal but factor IX is low, with identical symptoms, what's the best diagnosis?
Published	06/12/2025	124) In Hemophilia C, why is prophylaxis with factor XI replacement not as common as in Hem A/B?
Published	06/12/2025	125) If a 25-year-old woman of Ashkenazi descent experiences postpartum hemorrhage with prolonged aPTT but normal platelet count, suspect what?
Published	06/12/2025	126) In the context of bleeding disorders, what does autosomal recessive inheritance imply for male vs. female incidence?
Published	06/12/2025	127) Why might a very mild Hemophilia A remain undetected until adolescence or adulthood?
Published	06/12/2025	128) What is the significance of Hemophilic arthropathy?
Published	06/12/2025	129) Which factor deficiency is also known to be fairly common in certain inbred populations (similar to Hem C in Ashkenazi)?
Published	06/12/2025	130) Name one reason factor VIII or IX prophylaxis is recommended in severe hemophiliacs.
Published	06/12/2025	131) If a question stem mentions a postpartum female with an elevated aPTT and extensive bruising, what must you consider before concluding vWD?
Published	06/12/2025	132) Which lab test might be done first in a suspected vWD patient, besides aPTT?
Published	06/12/2025	133) A patient with vWD type 2B has a unique phenomenon with platelets. What is it?
Published	06/12/2025	134) If a patient has a persistent low factor VIII activity and abnormal ristocetin test, do you suspect Hemophilia A or vWD?
Published	06/12/2025	135) Which technique historically caused HIV/HCV transmission in hemophiliacs before safer measures?
Published	06/12/2025	136) Why must hemophiliacs sometimes use “bypassing agents” (FEIBA or rFVIIa)?
Published	06/12/2025	137) Which acquired condition can produce a normal PT, prolonged aPTT, and thrombosis (not bleeding)?
Published	06/12/2025	138) Which factor deficiency might be tested in a question about a patient with no bleeding symptoms but an incidental prolonged aPTT?
Published	06/12/2025	139) If a mixing study completely corrects the aPTT, what does that strongly indicate?
Published	06/12/2025	140) Hemophilia A is sometimes referred to as “antihemophilic factor deficiency.” Which factor is that again?
Published	06/12/2025	141) Why might a woman with vWD have normal bleeding most of the time but postpartum hemorrhage after delivery?
Published	06/12/2025	142) Which inherited condition can produce a severe combined effect of platelet-type bleeding and factor deficiency bleeding?
Published	06/12/2025	143) True or False: If a mother has Hemophilia A, all her sons will be affected.
Published	06/12/2025	144) In Hemophilia B, which gene is mutated, and on which chromosome is it located?
Published	06/12/2025	145) What is the typical therapy for Hemophilia C before dental surgery or a procedure?
Published	06/12/2025	146) Which protective measure is crucial in hemophiliacs to avoid chronic joint destruction?
Published	06/12/2025	147) A 10-year-old boy with repeated knee bleeds, normal PT, prolonged aPTT that corrects on mixing, and no improvement with DDAVP. Diagnosis?
Published	06/12/2025	148) Why does vWD sometimes result in a family history that includes affected males and females across multiple generations?
Published	06/12/2025	149) Which deficiency is specifically tested using a “ristocetin cofactor assay” that shows lack of platelet aggregation?
Published	06/12/2025	150) In acquired hemophilia A, what is the primary target of the pathogenic autoantibody?
Published	06/12/2025	151) Which condition would you suspect if you see: normal platelet count, normal PT, prolonged aPTT, normal vWF, but a mixing study fails to correct?
Published	06/12/2025	152) Why is factor XI deficiency called Hemophilia C if it’s much milder?
Published	06/12/2025	153) Which prophylactic measure helps avoid intracranial hemorrhage in severe hemophiliacs during childhood?
Published	06/12/2025	154) In Hemophilia A, can women be carriers with no abnormal lab values?
Published	06/12/2025	155) If a patient tested for bleeding tendency has abnormal platelet function tests, mild prolongation of aPTT, but no sign of deep bleeds, suspect?
Published	06/12/2025	156) Patients with factor VIII or IX inhibitors might require “immune tolerance induction.” What is that?
Published	06/12/2025	157) What do antifibrinolytic drugs like tranexamic acid do in the context of bleeding disorders?
Published	06/12/2025	158) Which lab abnormality do Hemophilia A, B, and C all share?
Published	06/12/2025	159) Why might an elderly patient with newly diagnosed factor VIII inhibitor also be screened for malignancy?
Published	06/12/2025	160) Summarize the key difference in bleeding patterns for vWD vs Hemophilia (A/B).
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