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CC May 2017 Hemochromatosis

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echoecho's version from 2017-05-14 23:51

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Question Answer
What is the most common genetic disorder found in Caucasians? hemochromatosis
Hereditary hemochromatosis is an autosomal _________ (recessive vs dominant) disorder?recessive
Hereditary hemochromatosis leads to altered _____ absorption and ultimately to increased ____iron stores?1) altered 2) iron
What gene mutation accounts for up to 90% of all cases of hereditary hemochromatosis?homozygous HFE gene mutation C282Y
Why is iron overload more common in affected men than women?because women have blood losses through menstruation, pregnancy and lactation which all delay the development of abnormally high iron stores
Abnormal iron stores occur in multiple organs, with the most serious complications involving which 2 organs?1) liver 2)heart
What can liver iron overload lead to?1) cirrhosis 2) hepatocellular carcinoma
What can cardiac iron overload lead to?1) cardiomyopathy 2) conduction blocks 3) overt heart failure
Symptoms of abnormal iron accumulation usually do not occur until after the age of _____ and are initially often vague and nonspecific?40
List the early symptoms of abnormal iron accumulation?1) fatigue 2) lethargy 3) arthralgia
List the late symptoms of abnormal iron accumulation?1) organ failure 2) "bronze diabetes" (cirrhosis, diabetes, bronze skin pigmentation)
When should hereditary hemochromatosis be considered in any patient? unexplained liver test abnormalities (especially in patients with a known or suspected family hx of hemochromatosis)
A family hx of frequent phlebotomist and/or unexplained heart failure or cirrhosis suggests hereditary hemochromatosis, true or false?true
*** Initial testing in suspected hereditary hemochromatosis should include?1) ferritin 2) iron 3) transferrin saturation
*** How is transferrin saturation level calculated?(serum iron /iron-binding capacity) x 100
*** A transferrin saturation > ___% and/or a transferrin > _____ ng/dL in men and > _____ng/mL in women should promote HFE gene testing? 45%; 300; 200
*** Homozygous gene mutation ____ in the presence of an elevated ferritin and/or elevated transferrin saturation is diagnostic of hereditary hemochromatosis, true or false?true
*** Heterozygous mutation should prompt ___ or ___ referral and possible____ biopsy?1) GI 2) hematological 3)liver
Using what imaging of the liver may help to differentiate secondary hemochromatosis from other liver patholies in patients with unexplained liver test elevations and absence of hereditary hemochromatosis?MRI
Define secondary hematochromatosis?secondary to excessive blood transfusions and /or excessive iron intake
What is the treatment of hereditary hemochromatosis?1) periodic phlebotomy 2) limitation of dietary iron intake
Phlebotomy should be performed weekly to achieve a serum ferritin of ___ to ____ ng/mL and a hemoglobin level > ____ g/dL when ferritin levels are > ____ ng/mL?50; 150; 12.5; 300
Monthly phlebotomy is indicated for serum levels between ____ and ____ng/ML, to achieve a target level of ___ - ____ ng/mL?150; 300; 50; 150
For ferritin levels > 150 ng/mL, maintenance phlebotomy should be performed every ___ to ___ months? 2; 6
For patients that are intolerant of phlebotomy, treatment is?chelation therapy
Patients diagnosed with hemochromatosis should under go baseline _____, _____, _____ screenings?1) thyroid 2) diabetes 3) cardiac
Patients should undergo a baseline liver US, if no hepatic lesions are seen, US should be performed every ___ months?12
Lesions < ____ cm should be followed every 3-6 months by US?1
Lesions > _____ cm should be referred for evaluation for possible hepatocellular carcinoma?1
Phlebotomy may prevent further organ damage, so does it reverse existing injury?no
After phlebotomy, what can patients expect to happen?1) improved energy 2) fading of skin discoloration 3) improved liver function studies 4) possible improvement in diabetes
What symptoms are usually permanent and emphasize the need to include hemochromatosis in the differential diagnosis when evaluating patients with associated nonspecific symptoms?1) arthropathy 2) male impotence 3) thyroid dysfunction 4) cirrhosis
*** SUMMARY = Define hemochromatosis?a genetic disorder of iron absorption leading to excessive iron stores
*** SUMMARY = Delayed diagnosis of hemochromatosis may lead to what damage?1)liver 2) heart 3) multiple organ
*** SUMMARY = ______ diagnosis is critical to prevent long-term complications?early
*** SUMMARY = What is an effective treatment?regularly scheduled phlebotomy
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