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Clinical Features
Clinical Expression
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Many factors contribute to the clinical expression of hemochromatosis:
- Rate of iron absorption.
- Age. The majority of cases are recognized in midlife, when body iron
stores have accumulated.
- Gender. Onset in males is usually earlier than in females, who may be
at lower risk due to pregnancies and menstrual blood losses.
- Dietary influences.
- Iron supplements can accelerate iron accumulation.
- Alcohol consumption contributes to
cirrhosis of the liver.
- Vitamin C increases iron absorption.
- Iron losses. Loss of iron from other processes (blood donation,
menstruation, occult bleeding, pregnancy) may delay onset.
- Presence of other diseases or toxins.
- Modifier genes.
The iron accumulation rate and the frequency and severity of clinical
symptoms vary widely. Most patients may have no early symptoms. Little is
known about the time from iron loading onset to development of symptoms or
injury to body organs.
Hemochromatosis symptoms are non-specific and seldom by themselves suggest a hemochromatosis diagnosis.
The most commonly associated early hemochromatosis symptoms may include:
- Fatigue.
- Weakness.
- Weight loss.
- Abdominal pain.
- Arthralgia.
If a patient presents with non-specific symptoms and uncertain etiology,
consider a hemochromatosis workup.
As iron accumulation progresses, patients may also experience:
- Arthritis.
- Symptoms of gonadal failure.
- For example, amenorrhea, early menopause, loss of libido, impotence.
- Shortness of breath/dyspnea.
Clinical Course of Hemochromatosis
Early hemochromatosis symptoms are non-specific. However, as iron
accumulation increases over time, more advanced complications occur. |
Iron accumulates in the parenchymal cells of several organs; the liver is a
major site, followed by the heart and pancreas.
Conditions associated with advanced stages of hemochromatosis include:
- Arthritis.
- Abnormal liver function (e.g., elevated transaminase and clinical liver
disease).
- Glucose intolerance and diabetes.
- Chronic abdominal pain.
- Severe fatigue.
- Hypopituitarism.
- Hypogonadism.
- Cardiomyopathy and arrhythmia.
- Cirrhosis.
- Liver cancer.
- Heart failure.
- Gray or bronze skin pigmentation.
Most advanced hemochromatosis complications are also common primary
disorders.
A hemochromatosis diagnosis can be missed even in advanced stages unless
looked for specifically (Hanson EH, 2001). Some complications are not
clearly related to excess iron, yet, when excess iron is removed, many
patients report feeling better.
The liver is usually the first affected organ. Hepatomegaly is one of the
most frequent findings at clinical presentation, followed by cirrhosis.
Primary hepatocellular carcinoma is more common in hemochromatosis
patients with cirrhosis than in the general population (Haddow JE 2003;
Niederau C, 1985; Willis G 2000).
Diabetes mellitus occurs in 25–75% of patients. It is more likely to
develop in those with family histories of diabetes, suggesting that direct
damage to pancreatic islets by iron deposition occurs in combination with a
genetic predisposition.
Arthropathy develops in 25–50% of patients. It usually occurs after age 50
Cardiac involvement is the presenting manifestation in about 15% of
patients. The most common manifestation is palpitations as symptoms of
arrhythmia.
Hypogonadism occurs in both sexes and may antedate other clinical features.
Manifestations include loss of libido, impotence, amenorrhea, testicular
atrophy, gynecomastia, and sparse body hair.
Excessive skin pigmentation is present in more than 90% of symptomatic
patients at diagnosis.
Note: See
Barton JC (1998) for more in depth information about the clinical
stages of hemochromatosis.
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