Hemochromatosis Flashcards
Hemochromatosis means
Excessive iron
Who is typically affected by hemochromatosis?
• Population: Males >50/Females 10-20 years after (ie. Menopause)
Primary Hemochromatosis
Genetic: Excess Ferroportin/ Decreased Hepcidin
Secondary Hemochromatosis
• Secondary: Excess intake (supplementation/diet), repetitive transfusions, chronic liver disease, certain anemias (Sideoblastic-iron reutilization & Thalassemia Major)
Complications of Hemochromatosis: Liver
-General: Iron deposits->ROS->Tissue damage + inflammation->Fibrosis
• Liver: Cirrhosis, hepatocellular carcinoma
Hemochromatosis: Lab/Diagnosis
• 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
Treatment of Hemochromatosis
• Phlebotomy
• Monitor ferritin
Prothrombin Time (PT) aids in the evaluation of clotting disorders that may involve:
• Extrinsic coagulation pathway: Factor VII
• Common pathways: Factors II, V, X and fibrinogen
• Marked prolongation of the PT in liver disease indicates:
Advanced disease
INR is preferred to monitor patients on
Warfarin or coumadin
INR: Marked Elevation
-Cannot clot quickly
-Marked elevation of INR in patients receiving oral anticoagulants is a marker of excessive anticoagulation and requires prompt action
A decrease in INR reflects:
Insufficient anticoagulation
PTT assesses coagulation of _______ & _____ pathways of coagulation
Intrinsic and common
PTT is used to
• Screening for hemophilia A and B and other possible coagulopathies
• Monitoring those on heparin
Thrombin time measures:
conversion time of fibrinogen into fibrin
• vWF is a protein critical to the initial stages of blood clotting, acting as a bridge for
Platelet adhesion
• Many cases of inherited vWD are diagnosed in childhood, often during:
Initial years of menstruation
Common symptoms of vWD are
-mucocutaneous (recurrent epistaxis, menorrhagia, ecchymosis) or postprocedural bleeding
VWD affects:
Males & Females
Hemophilia is a deficiency of ______ or ______ coagulation proteins leading to _______ in affected individuals
Deficiency of factor VIII (hemophilia A) or factor IX (hemophilia B, Christmas disease) coagulation proteins leading to bleeding tendencies in affected individuals
Hemophilia: History/Initial Presentation
• 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
Factor V Leiden is the name of a specific genetic mutation that results in ______, which is a _______
Results in thrombophilia, which is an increased tendency to form abnormal blood clots that can block blood vessels
Those with Factor V Leiden are at a higher than average risk of developing a type of blood clot called a:
DVT
DVTs are most common in the
Legs
Factor V Leiden: Signs/Symptoms
• Most never have symptoms
• First indication may be development of blood clot (thrombosis)
Pulmonary embolism
• Sudden shortness of breath, chest pain when breathing in, a cough that produces bloody
or blood-streaked sputum, rapid heartbeat
Factor V Leiden: Tests/Diagnosis
• Activated protein C resistance test
• Genetic test
Complications of Hemochromatosis: Heart
• Heart: Cardiomyopathy->Arrythmias
Complications of Hemochromatosis: Pituitary
• Pituitary: Endocrine disruptions
Complications of Hemochromatosis: Gonads
• Gonads: Hypogonadism, sexual dysfunction
Complications of Hemochromatosis: Joints
• Joints: Arthritis, chondrocalcinosis, joint pain
Complications of Hemochromatosis: Skin
• Skin: Bronzing of skin (early)
