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Hereditary Hemochromatosis

 Syn. HH

Signs & Symptoms

 Weakness
Ref: Uptodate [ Clinical manifestations and diagnosis of hereditary hemochromatosis]
Lethargy
Ref: Uptodate [ Clinical manifestations and diagnosis of hereditary hemochromatosis] Harrison [ 2979]
Skin hyperpigmentation
Ref: Uptodate [ Clinical manifestations and diagnosis of hereditary hemochromatosis] Harrison [ 2979]
Positive family History of hemochromatosis
Ref: Uptodate [ Clinical manifestations and diagnosis of hereditary hemochromatosis]

Physical Examination

 Hepatomegaly
Ref: Uptodate [ Clinical manifestations and diagnosis of hereditary hemochromatosis] Harrison [ 2979]
Spider angiomas
Ref: Harrison [ 2979]

Lab / Serology

 C282Y C282Y genotype
Ref: Uptodate [ Clinical manifestations and diagnosis of hereditary hemochromatosis]
Elevated transferrin saturation
Note: greater than 45 percent
Ref: Uptodate [ Clinical manifestations and diagnosis of hereditary hemochromatosis]
Elevated fasting serum transferrin saturation
Note: >45%, greater than 45 percent
Ref: Uptodate [ Clinical manifestations and diagnosis of hereditary hemochromatosis]

Imagin Study

 Atrioventricular block
Ref: Harrison [ 2980]
Ascites
Ref: Harrison [ 2979]
Splenomegaly
Ref: Harrison [ 2979]

Complication

 Diabetes mellitus
Ref: Uptodate [ Clinical manifestations and diagnosis of hereditary hemochromatosis] Harrison [ 2980]
Breast cancer Gr. Female
Ref: Uptodate [ Clinical manifestations and diagnosis of hereditary hemochromatosis]
Low bone mass
Note: due to Hypogonadism
Ref: Uptodate [ Clinical manifestations and diagnosis of hereditary hemochromatosis]

Risk Factors

 Alcohol
Ref: Uptodate [ Clinical manifestations and diagnosis of hereditary hemochromatosis]
Male
Ref: Harrison [ 2980]
Age between 40 and 60
Ref: Harrison [ 2978]

Cause

 HFE gene mutation
Ref: Harrison [ 2977]

Other