Hemochromatosis: Difference between revisions
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== Associated Co-morbidities == | == Associated Co-morbidities == | ||
• ''Diabetes mellitus and Glucose intolerance ''frequently occurs with cirrhosis including cirrhosis associated with hemochromatosis (http://www.medscape.com/viewarticle/421519_3). Diabetes can occur from an excess amount of iron in the pancreas (symptoms and remedies) | |||
<br>• ''Cirrhosis of the liver, liver cancer, and liver failure ''may take place from excess iron in the liver.(symptoms and remedies) | |||
#Hepatomagaly is one of the most common physical signs in patients with this disease. | |||
# In a young asymptomatic homozygote, hepatomagaly may not be present. (http://www.medscape.com/viewarticle/421519_3) | |||
<br> | |||
• ''Cardiac Disease''- If hemochromatosis is left untreated then it can lead to congestive heart failure and impotence. (symptoms and remedies). CHF is a relatively uncommon manifestation of C282Y hemochromatosis, but it is often the complaint in juvenile hemochromatosis that presents (http://www.medscape.com/viewarticle/421519_3). | |||
<br>• ''Pigmentation''- A darker skin pigmentation is a feature which occurs later in hemochromatosis which does improve with iron depletion therapy. “Bronze diabetes” is the clinical syndrome and it is a very rare presentation for hemochromatosis (http://www.medscape.com/viewarticle/421519_3). | |||
<br>• ''Endocrine Problems''- in the late stages of hemochromatosis, impotence is a common difficulty. The impotence is often related to testosterone atrophy. Parental testosterone therapy may be a helpful solution which may also benefit the osteoporosis that occurs as disease advances. (http://www.medscape.com/viewarticle/421519_3) | |||
<br>• ''Thyroid and pituitary dysfunction ''have also been associated with hemochromatosis. (http://www.medscape.com/viewarticle/421519_3)<br> | |||
== Medications == | == Medications == |
Revision as of 18:29, 30 March 2012
Original Editors - Jill Heil & Jillian Redlinger from Bellarmine University's Pathophysiology of Complex Patient Problems project.
Lead Editors - Your name will be added here if you are a lead editor on this page. Read more.
Definition/Description[edit | edit source]
Hemochromatosis, also known as bronze diabetes or iron storage disease, is an autosomal recessive hereditary disorder characterized by excessive iron absorption by the small intestines[1]. Individuals with hemochromatosis lack an effective way to remove excess iron, and the iron begins to accumulate with subsequent development of fibrosis in the liver, pancreas, skin, heart, and other organs[2]. Excess iron accumulation in the body promotes oxidation and causes tissue injury, fatigue, arthralgia or arthritis, and skin changes. Complications can include hepatomegaly, diabetes, impotence (males), pulmonary involvement, and cardiac myopathy[2].
Prevalence[edit | edit source]
• In one of every 200-300 people there is a genetic abnormality found, but there can also be an excessive amount of iron intake that can cause Hemochromatosis. (symptoms and remedies)
• Occurs 5-10 times more often in men than women; this is due to women losing blood through menstuation and pregnanacy[2].
• Symptoms occur in men >50 years and are rarely symptomatic before 30 years of age[2].
• Women experience symptoms around age 60[2].
• It is the most common autosomal recessive disorder in people of Northern European descent [3]
• If an individual has hemochromatosis, their brothers and sisters have a 1 in 4 chance (25%) of having two HFE gene mutations and their children have about a 1 in 20 chance (5%) of having two HFE gene mutations[4].
Characteristics/Clinical Presentation[edit | edit source]
add text here
Associated Co-morbidities[edit | edit source]
• Diabetes mellitus and Glucose intolerance frequently occurs with cirrhosis including cirrhosis associated with hemochromatosis (http://www.medscape.com/viewarticle/421519_3). Diabetes can occur from an excess amount of iron in the pancreas (symptoms and remedies)
• Cirrhosis of the liver, liver cancer, and liver failure may take place from excess iron in the liver.(symptoms and remedies)
- Hepatomagaly is one of the most common physical signs in patients with this disease.
- In a young asymptomatic homozygote, hepatomagaly may not be present. (http://www.medscape.com/viewarticle/421519_3)
• Cardiac Disease- If hemochromatosis is left untreated then it can lead to congestive heart failure and impotence. (symptoms and remedies). CHF is a relatively uncommon manifestation of C282Y hemochromatosis, but it is often the complaint in juvenile hemochromatosis that presents (http://www.medscape.com/viewarticle/421519_3).
• Pigmentation- A darker skin pigmentation is a feature which occurs later in hemochromatosis which does improve with iron depletion therapy. “Bronze diabetes” is the clinical syndrome and it is a very rare presentation for hemochromatosis (http://www.medscape.com/viewarticle/421519_3).
• Endocrine Problems- in the late stages of hemochromatosis, impotence is a common difficulty. The impotence is often related to testosterone atrophy. Parental testosterone therapy may be a helpful solution which may also benefit the osteoporosis that occurs as disease advances. (http://www.medscape.com/viewarticle/421519_3)
• Thyroid and pituitary dysfunction have also been associated with hemochromatosis. (http://www.medscape.com/viewarticle/421519_3)
Medications[edit | edit source]
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Diagnostic Tests/Lab Tests/Lab Values[edit | edit source]
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Etiology/Causes[edit | edit source]
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Systemic Involvement[edit | edit source]
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Medical Management (current best evidence)[edit | edit source]
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Physical Therapy Management (current best evidence)[edit | edit source]
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Alternative/Holistic Management (current best evidence)[edit | edit source]
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Differential Diagnosis[edit | edit source]
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Case Reports/ Case Studies[edit | edit source]
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Resources
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Recent Related Research (from Pubmed)[edit | edit source]
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References[edit | edit source]
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- ↑ Goodman CC, Boissonnault WG, Fuller KS. Pathology: Implications for the Physical Therapist 2nd ed. Philadephia: Suanders, 2003.
- ↑ 2.0 2.1 2.2 2.3 2.4 Goodman CC, Snyder TK. Differential Diagnosis for Physical Therapists: Screening for Referral 4th ed. St. Louis: Saunders Elsevier, 2007.
- ↑ Cite error: Invalid
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- ↑ Hemochromatosis (Iron Storage Disease). Information for Families. http://www.cdc.gov/ncbddd/hemochromatosis/families.html (accessed 29 March 2012).