Hemochromatosis
Definition
An iron storage disease that affects multiple organ and tissue systems
Types
- Primary (idiopathic): excess iron is of dietary origin
- Secondary—iron overload due to multiple blood transfusions in patients with chronic anemia
Primary Hemochromatosis
Signs and Symptoms
The clinical presentation is usually of a man over 40 years, with evidence of the clinical tetrad: diabetes mellitus, liver, skin, and heart disease, with one-third manifesting congestive heart failure
M-Mode/2-D
-
Dilated cardiomyopathy
Doppler
- Valvular regurgitation
- Normal or slightly increased mitral E velocity
- No significant respiratory variation in mitral E velocity
- Rapid mitral deceleration time (< 160 msec), especially during inspiration
- Diastolic mitral and tricuspid regurgitation
- Normal to slightly decreased left ventricular isovolumic relaxation time
- Small mitral A wave
- Increased mitral E/A ratio (> 2. 0)
- Decreased tricuspid valve deceleration time in inspiration
- Decreased systolic and increased diastolic filling in pulmonary veins
- Systolic reversal in inspiration and A wave reversal and late diastolic reversal in hepatic vein
- Mitral regurgitation
Secondary Hemochromatosis
Signs and Symptoms
- High output cardiac failure from anemia
- Hemosiderosis
M-Mode/2-D
- Increased left ventricular wall thickness
- Left ventricular enlargement
- Increased left ventricular mass
- Left atrial enlargement
- May demonstrate normal or Depressed systolic left ventricular function, with depressed function indicating a worse prognosis
Doppler
- Normal or slightly increased mitral E velocity
- No significant respiratory variation in mitral E velocity
- Rapid mitral deceleration time (< 160 msec), especially during inspiration
- Diastolic mitral and tricuspid regurgitation
- Normal to slightly decreased left ventricular isovolumic relaxation time
- Small mitral A wave
- Increased mitral E/A ratio (> 2. 0)
- Decreased tricuspid valve deceleration time in inspiration
- Decreased systolic and increased diastolic filling in pulmonary veins
- Systolic reversal in inspiration and A wave reversal and late diastolic reversal in hepatic vein
- Mitral regurgitation
Treatment
Phlebotomy with Echo Doppler follow-up