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Hemochromatosis

Hemochromatosis

Hemochromatosis

National Digestive Diseases Information Clearinghouse

What is hemochromatosis? gene with the C282Y defect will have higher- than-average absorption. However, Hemochromatosis is the most common form not all of these people will develop health of disease. Too much iron in problems associated with hemochromatosis. the body causes hemochromatosis. Iron is One recent study found that 31 percent of important because it is part of hemoglobin, people with two copies of the C282Y defect a molecule in the that transports developed health problems by their early oxygen from the lungs to all body tissues. fifties.2 Men who develop health problems However, too much iron in the body leads to from HFE defects typically develop them iron overload—a buildup of extra iron that, after age 40.1 Women who develop health without treatment, can damage organs such problems from HFE defects typically develop as the , , and ; endocrine them after .1 glands; and joints. People who inherit two H63D defects or The three types of hemochromatosis one C282Y and one H63D defect may have are primary hemochromatosis, also higher-than-average iron absorption.3 called hereditary hemochromatosis; However, they are unlikely to develop iron secondary hemochromatosis; and neonatal overload and organ damage. hemochromatosis. Rare defects in other genes may also cause What causes primary hemochromatosis. in the or genes cause hemochromatosis? , a type of primary Primary Hemochromatosis hemochromatosis. People with juvenile hemochromatosis typically develop severe Inherited genetic defects cause primary iron overload and liver and heart damage hemochromatosis, and mutations in the HFE between ages 15 and 30. gene are associated with up to 90 percent of cases.1 The HFE gene helps regulate the Secondary Hemochromatosis amount of iron absorbed from food. The two known mutations of HFE are C282Y and Hemochromatosis that is not inherited H63D. C282Y defects are the most common is called secondary hemochromatosis. cause of primary hemochromatosis. The most common cause of secondary hemochromatosis is frequent blood People inherit two copies of the HFE transfusions in people with severe . gene—one copy from each parent. Most Anemia is a condition in which red blood people who inherit two copies of the HFE cells are fewer or smaller than normal, which means they carry less oxygen to the body’s Researchers supported by the National cells. Types of anemia that may require Institute of and Digestive and frequent blood transfusions include Kidney Diseases (NIDDK) recently found that a combination of exchange • congenital, or inherited, such transfusion—removing blood and replacing it as , , and with donor blood—and IV immunoglobulin Fanconi’s syndrome is an effective treatment for babies born with • severe acquired anemias, which are not neonatal hemochromatosis.5 inherited, such as aplastic anemia and autoimmune hemolytic anemia Who is more likely to Liver diseases—such as alcoholic liver develop hemochromatosis? disease, nonalcoholic , and Primary hemochromatosis mainly affects chronic C infection—may cause Caucasians of Northern European mild iron overload. However, this iron descent. This disease is one of the most overload causes much less liver damage than common genetic disorders in the United the underlying causes. States. About four to five out of every Neonatal Hemochromatosis 1,000 Caucasians carry two copies of the C282Y of the HFE gene and are Neonatal hemochromatosis is a rare disease susceptible to developing hemochromatosis.1 characterized by and death About one out of every 10 Caucasians carries in fetuses and newborns. Researchers one copy of C282Y.1 are studying the causes of neonatal hemochromatosis and believe more than one Hemochromatosis is extremely rare in factor may lead to the disease. African Americans, Asian Americans, Hispanics/Latinos, and American Indians. Experts previously considered neonatal HFE mutations are usually not the cause of hemochromatosis a type of primary hemochromatosis in these populations. hemochromatosis. However, recent studies suggest genetic defects that increase iron Both men and women can inherit the gene absorption do not cause this disease. defects for hemochromatosis; however, Instead, the mother’s immune system may not all will develop the symptoms of produce antibodies—proteins made by hemochromatosis. Men usually develop the immune system to protect the body symptoms at a younger age than women. from foreign substances such as bacteria Women lose blood—which contains iron— or viruses—that damage the liver of the regularly during menstruation; therefore, fetus. Women who have had one child with women with the gene defects that cause neonatal hemochromatosis are at risk for hemochromatosis may not develop iron having more children with the disease.4 overload and related symptoms and Treating these women during pregnancy complications until after menopause. with intravenous (IV) immunoglobulin—a solution of antibodies from healthy people— can prevent fetal liver damage.4

2 Hemochromatosis What are the symptoms How is hemochromatosis of hemochromatosis? diagnosed? A person with hemochromatosis may notice Health care providers use medical and one or more of the following symptoms: family history, a physical exam, and routine blood tests to diagnose hemochromatosis or • joint pain other conditions that could cause the same • , or feeling tired symptoms or complications. • unexplained weight loss • Medical and family history. Taking • abnormal bronze or gray skin color a medical and family history is one of the first things a health care • abdominal pain provider may do to help diagnose • loss of sex drive hemochromatosis. The health care provider will look for clues that may Not everyone with hemochromatosis will indicate hemochromatosis, such as a develop these symptoms. family history of or unexplained liver disease. What are the complications • Physical exam. After taking a medical of hemochromatosis? history, a health care provider will Without treatment, iron may build up in the perform a physical exam, which may organs and cause complications, including help diagnose hemochromatosis. During a physical exam, a health care • , or scarring of liver tissue provider usually • diabetes – examines a patient’s body • irregular heart rhythms or weakening of – uses a stethoscope to listen to bodily the heart muscle sounds – taps on specific areas of the patient’s • arthritis body • erectile dysfunction • Blood tests. A blood test involves The complication most often associated drawing blood at a health care with hemochromatosis is liver damage. Iron provider’s office or a commercial facility buildup in the liver causes cirrhosis, which and sending the sample to a lab for increases the chance of developing liver analysis. Blood tests can determine cancer. whether the amount of iron stored in the body is higher than normal:1 For some people, complications may be the first sign of hemochromatosis. However, not – The saturation test everyone with hemochromatosis will develop shows how much iron is bound to the complications. protein that carries iron in the blood. Transferrin saturation values above or equal to 45 percent are considered abnormal.

3 Hemochromatosis – The serum test detects the she may use ultrasound, computerized amount of ferritin—a protein that tomography scans, or other imaging stores iron—in the blood. Levels techniques to guide the needle. After above 300 µg/L in men and 200 µg/L the , the patient must lie on in women are considered abnormal. the right side for up to 2 hours and is Levels above 1,000 µg/L in men or monitored an additional 2 to 4 hours women indicate a high chance of iron before being sent home. overload and organ damage. A health care provider performs a liver If either test shows higher-than-average biopsy at a hospital or an outpatient levels of iron in the body, health care center. The health care provider sends providers can order a special blood test the liver sample to a pathology lab that can detect two copies of the C282Y where the pathologist—a doctor who mutation to confirm the diagnosis. If specializes in diagnosing disease—looks the mutation is not present, health care at the tissue with a microscope and providers will look for other causes. sends a report to the patient’s health care provider. The biopsy shows how • . Health care providers may much iron has accumulated in the perform a liver biopsy, a procedure that liver and whether the patient has liver involves taking a piece of liver tissue damage. for examination with a microscope for signs of damage or disease. The Hemochromatosis is rare, and health health care provider may ask the patient care providers may not think to test for to temporarily stop taking certain this disease. Thus, the disease is often medications before the liver biopsy. not diagnosed or treated. The initial The health care provider may ask the symptoms can be diverse, vague, and patient to fast for 8 hours before the similar to the symptoms of many other procedure. diseases. Health care providers may focus on the symptoms and complications caused During the procedure, the patient lies by hemochromatosis rather than on the on a table, right hand resting above the underlying iron overload. However, if a head. The health care provider applies health care provider diagnoses and treats the a local anesthetic to the area where he iron overload caused by hemochromatosis or she will insert the biopsy needle. If before organ damage has occurred, a person needed, a health care provider will also can live a normal, healthy life. give sedatives and pain medication. The health care provider uses a needle to take a small piece of liver tissue. He or

4 Hemochromatosis How is hemochromatosis Who should be tested treated? for hemochromatosis? Health care providers treat hemochromatosis Experts recommend testing for by drawing blood. This process is called hemochromatosis in people who have phlebotomy. Phlebotomy rids the body symptoms, complications, or a family of extra iron. This treatment is simple, history of the disease. inexpensive, and safe. Some researchers have suggested Based on the severity of the iron overload, widespread screening for the C282Y a patient will have phlebotomy to remove a mutation in the general population. pint of blood once or twice a week for several However, screening is not cost-effective. months to a year, and occasionally longer. Although the C282Y mutation occurs Health care providers will test serum ferritin quite frequently, the disease caused by levels periodically to monitor iron levels. the mutation is rare, and many people The goal is to bring serum ferritin levels to with two copies of the mutation never the low end of the average range and keep develop iron overload or organ damage. them there. Depending on the lab, the level is 25 to 50 µg/L. Researchers and public health officials suggest the following: After phlebotomy reduces serum ferritin levels to the desired level, patients may • Siblings of people who have need maintenance phlebotomy treatment hemochromatosis should have their every few months. Some patients may need blood tested to see if they have the phlebotomies more often. Serum ferritin C282Y mutation. tests every 6 months or once a year will help • Parents, children, and other close determine how often a patient should have relatives of people who have blood drawn. Many centers hemochromatosis should consider provide free phlebotomy treatment for being tested. people with hemochromatosis. • Health care providers should Treating hemochromatosis before organs consider testing people who have are damaged can prevent complications severe and continuing fatigue, such as cirrhosis, heart problems, arthritis, unexplained cirrhosis, joint pain or and diabetes. Treatment cannot cure these arthritis, heart problems, erectile conditions in patients who already have dysfunction, or diabetes because them at diagnosis. However, treatment these health issues may result from will help most of these conditions improve. hemochromatosis. The treatment’s effectiveness depends on

5 Hemochromatosis the degree of organ damage. For example, treating hemochromatosis can stop the Points to Remember progression of liver damage in its early stages and lead to a normal life expectancy. • Hemochromatosis is the most However, if a patient develops cirrhosis, common form of iron overload his or her chance of developing disease. Too much iron in the body increases, even with phlebotomy treatment. causes hemochromatosis. Arthritis usually does not improve even after • Inherited genetic defects cause phlebotomy removes extra iron. primary hemochromatosis. • Primary hemochromatosis mainly Eating, Diet, and Nutrition affects Caucasians of Northern Iron is an essential nutrient found in many European descent. foods. Healthy people usually absorb less • A person with hemochromatosis than 10 percent of iron in the food they may notice one or more of 6 eat. People with hemochromatosis absorb the following symptoms: joint 6 up to 30 percent of that iron. People with pain; fatigue, or feeling tired; hemochromatosis can help prevent iron unexplained weight loss; overload by abnormal bronze or gray skin • eating only moderate amounts of iron- color; abdominal pain; and loss rich foods, such as red meat and organ of sex drive. Not everyone with meat hemochromatosis will develop these symptoms. • avoiding supplements that contain iron • Without treatment, iron may • avoiding supplements that contain build up in the organs and cause , which increases iron complications, including cirrhosis, absorption diabetes, irregular heart rhythms People with hemochromatosis can take steps or weakening of the heart muscle, to help prevent liver damage, including arthritis, and erectile dysfunction. • limiting the amount of alcoholic • If a health care provider diagnoses beverages they drink because alcohol and treats the iron overload caused increases their chance of cirrhosis and by hemochromatosis before organ liver cancer damage has occurred, a person can live a normal, healthy life. • avoiding alcoholic beverages entirely if they already have cirrhosis • Experts recommend testing for hemochromatosis in people who have symptoms, complications, or a family history of the disease. • Health care providers treat hemochromatosis by drawing blood. This process is called phlebotomy.

6 Hemochromatosis Hope through Research 4. Whitington PF, Kelly S. Outcome of pregnancies at risk for neonatal The NIDDK’s Division of Digestive hemochromatosis is improved by Diseases and Nutrition supports research treatment with high-dose intravenous into diseases that affect the liver, including immunoglobulin. Pediatrics. hemochromatosis. 2008;121(6):e1615–e1621. Clinical trials are research studies involving 5. Rand EB, Karpen SJ, Kelly S, et al. people. Clinical trials look at safe and Treatment of neonatal hemochromatosis effective new ways to prevent, detect, or with exchange transfusion and treat disease. Researchers also use clinical intravenous immunoglobulin. The Journal trials to look at other aspects of care, such of Pediatrics. 2009;155(4):566–571. as improving the quality of life for people with chronic illnesses. To learn more about 6. Hemochromatosis: what every clinician clinical trials, why they matter, and how to and health care professional needs to participate, visit the NIH Clinical Research know. Centers for Disease Control Trials and You website at www.nih.gov/health/ and Prevention website. www.cdc.gov/ clinicaltrials. For information about current ncbddd/hemochromatosis/training/pdf/ studies, visit www.ClinicalTrials.gov. hemochromatosis_course.pdf. Updated September 23, 2010. Accessed December References 19, 2013. 1. Bacon BR, Adams PC, Kowdley KV, Powell LW, Tavill AS. Diagnosis and For More Information management of hemochromatosis: American Hemochromatosis Society, Inc. 2011 practice guideline by the 4044 West Lake Mary Boulevard, #104, American Association for the Study PMB 416 of Liver Diseases. . Lake Mary, FL 32746–2012 2011;54(1):328–343. Phone: 1–888–655–IRON (1–888–655–4766) or 407–829–4488 2. Aguilar-Martinez P, Bismuth M, Blanc Fax: 407–333–1284 F, et al. The Southern French registry Email: [email protected] of genetic hemochromatosis: a tool Internet: www.americanhs.org for determining clinical prevalence of the disorder and genotype . American Liver Foundation Haematologica. 2010;95(4):551–556. 39 Broadway, Suite 2700 New York, NY 10006 3. Aranda N, Viteri FE, Montserrat C, Phone: 1–800–GO–LIVER Arija V. Effects of C282Y, H63D, and (1–800–465–4837) or 212–668–1000 S65C HFE gene mutations, diet, and Fax: 212–483–8179 life-style factors on iron status in the Internet: www.liverfoundation.org general Mediterranean population from Tarragona, Spain. Annals of . 2010;89(8):767–773.

7 Hemochromatosis Iron Disorders Institute National Digestive Diseases P.O. Box 675 Taylors, SC 29687 Information Clearinghouse Phone: 1–888–565–IRON (1–888–565–4766) 2 Information Way or 864–292–1175 Bethesda, MD 20892–3570 Email: [email protected] or Phone: 1–800–891–5389 [email protected] TTY: 1–866–569–1162 Internet: www.irondisorders.org Fax: 703–738–4929 Email: [email protected] National Organization for Rare Disorders Internet: www.digestive.niddk.nih.gov 55 Kenosia Avenue Danbury, CT 06810 The National Digestive Diseases Information Phone: 1–800–999–6673 or 203–744–0100 Clearinghouse (NDDIC) is a service of the Fax: 203–798–2291 National Institute of Diabetes and Digestive Internet: www.rarediseases.org and Kidney Diseases (NIDDK). The NIDDK is part of the National Institutes of Health of the U.S. Department of Health Acknowledgments and Human Services. Established in 1980, Publications produced by the Clearinghouse the Clearinghouse provides information are carefully reviewed by both NIDDK about digestive diseases to people with scientists and outside experts. This digestive disorders and to their families, publication was originally reviewed by Bruce health care professionals, and the public. R. Bacon, M.D., St. Louis University School The NDDIC answers inquiries, develops and of Medicine, and Anthony Tavill, M.D., distributes publications, and works closely Case Western Reserve University School with professional and patient organizations of Medicine. Kris Kowdley, M.D., Virginia and Government agencies to coordinate Mason Medical Center, reviewed the resources about digestive diseases. updated version of the publication.

This publication is not copyrighted. The Clearinghouse You may also find additional information about this encourages users of this publication to duplicate and topic by visiting MedlinePlus at www.medlineplus.gov. distribute as many copies as desired. This publication may contain information about This publication is available at medications and, when taken as prescribed, www.digestive.niddk.nih.gov. the conditions they treat. When prepared, this publication included the most current information available. For updates or for questions about any medications, contact the U.S. Food and Drug Administration toll-free at 1–888–INFO–FDA (1–888–463–6332) or visit www.fda.gov. Consult your health care provider for more information.

NIH Publication No. 14–4621 March 2014

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