Diagnosis
Table 2. Symptoms in Patients with HH
Asymptomatic
Abnormal serum iron studies on routine
screening chemistry panel
Evaluation of abnormal liver tests
Identified by family screening
Nonspecific, systemic symptoms
Weakness
Apathy
Fatigue
Weight loss
Lethargy
Specific, organ-related symptoms
Abdominal pain (hepatomegaly)
Loss of libido, impotence (pituitary, cirrhosis)
Arthralgias (arthritis)
Congestive heart failure (heart)
Diabetes (pancreas)
Arrhythmias (heart)
Amenorrhea (cirrhosis)
Table 3. Physical Findings in Patients with HH
Asymptomatic
No physical findings
Hepatomegaly
Symptomatic
Liver
Hepatomegaly
Cutaneous stigmata of chronic liver disease
Splenomegaly
Liver failure: ascites, encephalopathy, and associated features
Joints
Arthritis
Joint swelling
Chondrocalcinosis
Heart
Dilated cardiomyopathy
Congestive heart failure
Skin
Increased pigmentation
Porphyria cutanea tarda
Endocrine
Testicular atrophy
Hypogonadism
Hypothyroidism
