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Clinical Pathology I > Hemochromatosis > Flashcards

Hemochromatosis Flashcards

1
Q

Hemochromatosis means

A

Excessive iron

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2
Q

Who is typically affected by hemochromatosis?

A

• Population: Males >50/Females 10-20 years after (ie. Menopause)

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3
Q

Primary Hemochromatosis

A

Genetic: Excess Ferroportin/ Decreased Hepcidin

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4
Q

Secondary Hemochromatosis

A

• Secondary: Excess intake (supplementation/diet), repetitive transfusions, chronic liver disease, certain anemias (Sideoblastic-iron reutilization & Thalassemia Major)

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5
Q

Complications of Hemochromatosis: Liver

A

-General: Iron deposits->ROS->Tissue damage + inflammation->Fibrosis
• Liver: Cirrhosis, hepatocellular carcinoma

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6
Q

Hemochromatosis: Lab/Diagnosis

A

• Iron panel: Serum iron, serum ferritin, % saturation ALL increase
• MRI: Iron deposits in tissue (especially in the liver/heart)
• Lowering of iron panel findings with phlebotomy
• Genetic testing

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7
Q

Treatment of Hemochromatosis

A

• Phlebotomy
• Monitor ferritin

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8
Q

Prothrombin Time (PT) aids in the evaluation of clotting disorders that may involve:

A

• Extrinsic coagulation pathway: Factor VII
• Common pathways: Factors II, V, X and fibrinogen

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9
Q

• Marked prolongation of the PT in liver disease indicates:

A

Advanced disease

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10
Q

INR is preferred to monitor patients on

A

Warfarin or coumadin

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11
Q

INR: Marked Elevation

A

-Cannot clot quickly
-Marked elevation of INR in patients receiving oral anticoagulants is a marker of excessive anticoagulation and requires prompt action

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12
Q

A decrease in INR reflects:

A

Insufficient anticoagulation

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13
Q

PTT assesses coagulation of _______ & _____ pathways of coagulation

A

Intrinsic and common

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14
Q

PTT is used to

A

• Screening for hemophilia A and B and other possible coagulopathies
• Monitoring those on heparin

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15
Q

Thrombin time measures:

A

conversion time of fibrinogen into fibrin

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16
Q

• vWF is a protein critical to the initial stages of blood clotting, acting as a bridge for

A

Platelet adhesion

17
Q

• Many cases of inherited vWD are diagnosed in childhood, often during:

A

Initial years of menstruation

18
Q

Common symptoms of vWD are

A

-mucocutaneous (recurrent epistaxis, menorrhagia, ecchymosis) or postprocedural bleeding

19
Q

VWD affects:

A

Males & Females

20
Q

Hemophilia is a deficiency of ______ or ______ coagulation proteins leading to _______ in affected individuals

A

Deficiency of factor VIII (hemophilia A) or factor IX (hemophilia B, Christmas disease) coagulation proteins leading to bleeding tendencies in affected individuals

21
Q

Hemophilia: History/Initial Presentation

A

• Prolonged bleeding with circumcision, dental work, surgery, or injury
• Excessive or easy bruising in early childhood, hematomas, hemarthroses
• Spontaneous bleeding, especially in joints, muscle, or soft tissue

22
Q

Factor V Leiden is the name of a specific genetic mutation that results in ______, which is a _______

A

Results in thrombophilia, which is an increased tendency to form abnormal blood clots that can block blood vessels

23
Q

Those with Factor V Leiden are at a higher than average risk of developing a type of blood clot called a:

A

DVT

24
Q

DVTs are most common in the

A

Legs

25
Q

Factor V Leiden: Signs/Symptoms

A

• Most never have symptoms
• First indication may be development of blood clot (thrombosis)

26
Q

Pulmonary embolism

A

• Sudden shortness of breath, chest pain when breathing in, a cough that produces bloody
or blood-streaked sputum, rapid heartbeat

27
Q

Factor V Leiden: Tests/Diagnosis

A

• Activated protein C resistance test
• Genetic test

28
Q

Complications of Hemochromatosis: Heart

A

• Heart: Cardiomyopathy->Arrythmias

29
Q

Complications of Hemochromatosis: Pituitary

A

• Pituitary: Endocrine disruptions

30
Q

Complications of Hemochromatosis: Gonads

A

• Gonads: Hypogonadism, sexual dysfunction

31
Q

Complications of Hemochromatosis: Joints

A

• Joints: Arthritis, chondrocalcinosis, joint pain

32
Q

Complications of Hemochromatosis: Skin

A

• Skin: Bronzing of skin (early)

Clinical Pathology I (11 decks)

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