Hemochromatosis Flashcards
Primary/hereditary and secondary
MSK manifestations of hemochromatosis
arthalgia, arthropathy and chondrocalcinosis
skin manifestations of hemochromatosis
hyperpigmentation
GI manifestations of hemochromatosis
elevated hepatic enzymes with hepatomegaly (early) and cirrhosis (later) and increased risk for HCC
endocrine manifestations of hemochromatosis
DM2 and secondary hypogonadism and hypothyroidism
cardiac manifestations of hemochromatosis
restrictive or dilated cardiomyopathy and conduction abnormalities
infectious manifestations of hemochromatosis
increased susceptibility to listeria, vibro vulnificus, and yersinia enterocolitis
how does hemochromatosis cause secondary hypogonadism
via iron accumulation in pituitary gondatrophs will see lower testosterone on labs.
Pts who undergo phlebotomy prior to age 40 will have less side effects of this
HFE mutation is ordered because
it helps differentiate the difference between hereditary hemochromatosis and other forms of hepatic iron overload.
clinical presentation of joint dx related to hereditary hemochromatosis
see pain in small joints (2nd and 3rd MCP), can involve the wrists, hips, knees and shoulders mild nocturnal arthralgias can resemble osteoarthritis or RA
what do we see in hereditary hemochromatosis radiological findings?
narrowed joint space subchondral sclerosis chondrocalcinosis hook like osteophytes on metacarpal heads.
DM2, atypical degenerative joint disease and hx of liver function abnormalities
hemochromatosis likely
Secondary causes of osteoarthritis include:
trauma, underlying inflammatory arthritis, infection, calcium pyrophosphate deposition disease, metabolic disorders (hemochromatosis)
screening test for hemochromatosis is:
serum transferrin saturation
What happens in primary hereditary hemochromatosis?
HFE mutations result in hepcidin deficiency and increase ferroportin expression duodenal enterocytes which causes increased Fe absorption and eventual organ injury because there’s no physiological mechanism to allow for excreting excess Fe.
hemochromatosis related arthropathy
affects 2nd or third metacarpophlangeal joints and may see “hooked” osteophytes
Diagnosis of hematochromatosis
transferrin saturation > than 45% can see a n elevated serum ferritin level.
bronze diabetes is a result of
pituitary infiltration of iron and see secretion of melanin
Is liver biopsy necessary for diagnosis of hemachromatosis?
no only done if the pt also has HCV or ETOH drinker to rule out other causes for liver abnormality
what should be done for 1st degree relatives with hereditary hemachromatosis?
they should get counseled on risks and advised to get medical evaluation and screening. Asymptomatic family members with hemochromatosis and serum ferritin level <500 can be safely observed.
goal phlebotomy target for treatment of hemachromatosis?
twice weekly phlebotomy with goal ferritin level of 50-100 Once goal is reached can have maintenance phlebotomy of 2-6 per year check ferritin level every 3 months.
prognosis for hereditary hemachromatosis
normal life span if gets phlebotomy and caught early one prior to development of cirrhosis and cardiac dx
Causes of secondary hemaochromatosis (acquired iron overload)
chronic blood transfusions (thalassemia minor pts, certain sickle cell pts) myelodysplastic syndrome porphyria cutanea tardea
what to do for people who have secondary hemachromatosis from thalassemia, sickle cell or meylodysplastic syndrome?
don’t do phlebotomy as they are already anemic use iron chelator therapy like: deroxamine (IV) or oral deferasirox or deferiprone Monitor serum ferritin levels
how to treat secondary hemachromatosis in porphyria cutanea tarda
phlebotomy works well. Seen with liver dx, HCV, and there are cutaneous blisters on hands and hypertrichosis.
