What are the symptoms of hemochromatosis?

Symptoms of Hemochromatosis

The most common symptoms of hemochromatosis include fatigue, joint pain (particularly in the metacarpophalangeal joints), abdominal pain, decreased libido, and impotence, though many patients are asymptomatic and diagnosed through abnormal laboratory findings or family screening. 1

Systemic Symptoms

• Fatigue and weakness: Reported in 46-83% of symptomatic patients, making it one of the most common and troublesome symptoms 1, 2
• Lethargy and apathy: Common non-specific symptoms 1
• Weight loss: May occur in advanced disease 1

Organ-Specific Symptoms

Liver-Related Symptoms

• Abdominal pain: Particularly in the right upper quadrant, present in 3-58% of patients 1
• Hepatomegaly: Present in 3-83% of patients, depending on disease stage 1

Joint-Related Symptoms

• Arthralgias (joint pain): Affects 13-57% of patients 1
• Characteristic joint involvement: Typically affects the 2nd and 3rd metacarpophalangeal joints, ankles (69.3%), hips (56.8%), and wrists (46.9%) 1, 3
• Chondrocalcinosis: Calcium deposition in joint cartilage 1, 3

Endocrine-Related Symptoms

• Decreased libido and impotence: Present in 12-56% of male patients 1, 4
• Amenorrhea in women: Particularly in those with cirrhosis 1
• Diabetes symptoms: Polyuria, polydipsia (present in 6-55% of patients) 1

Cardiac Symptoms

• Heart failure symptoms: Present in 0-35% of patients 1
• Arrhythmias: Can occur with cardiac involvement 1

Skin Manifestations

• Skin pigmentation: Bronze or slate-gray discoloration, present in 5-82% of patients 1
• Changes of porphyria cutanea tarda: Blistering skin lesions in sun-exposed areas 1

Other Physical Findings

• Loss of body hair: Present in 6-32% of patients 1
• Testicular atrophy: Present in 14-50% of male patients 1
• Gynecomastia: Present in 8-12% of male patients 1
• Splenomegaly: Present in 13-40% of patients 1

Important Clinical Considerations

1. Many patients are asymptomatic: Currently, approximately 75% of patients do not have symptoms and are diagnosed through abnormal iron studies on routine screening or family screening 1

2. Delayed diagnosis is common: Symptoms are often present for an average of 10 years before diagnosis 2

3. Symptom progression: Symptoms typically develop after significant iron accumulation (>5g of exchangeable body iron) and are invariably present with >16g 5

4. The classic triad of hepatomegaly, diabetes, and skin pigmentation (bronze diabetes) is now seen in only about 8% of patients 5

5. Circumstances leading to diagnosis:

   • Abnormal laboratory tests: 45% of cases
   • Symptoms: 35% of cases
   • Family member diagnosis: 20% of cases 2

Early Detection Considerations

Hemochromatosis should be considered in patients with:

• Unexplained fatigue
• Joint pain, especially in metacarpophalangeal joints
• Unexplained abdominal pain
• Sexual dysfunction
• Abnormal liver function tests 1

Early diagnosis is crucial to prevent progressive organ damage, particularly liver cirrhosis and hepatocellular carcinoma, through timely initiation of phlebotomy treatment 6, 7.