Materiały źródłowe

• #1 About Hereditary Hemochromatosis | Hereditary Hemochromatosis | CDC

  https://www.cdc.gov/hereditary-hemochromatosis/about/index.html

  Early diagnosis and treatment are critical to prevent complications from the disease. […] A blood test can be used to screen people who may have hemochromatosis by measuring how much iron is in their blood. […] Affected people with or without a known family history of hemochromatosis can be diagnosed through blood tests for excess iron in the body (called iron overload) followed by genetic testing. […] The earlier hemochromatosis is diagnosed, the less likely you are to develop serious complicationsmany of which can cause permanent problems.

• #2 Diagnosis of hemochromatosis – PubMed

  https://pubmed.ncbi.nlm.nih.gov/9867744/

  If untreated, hemochromatosis can cause serious illness and early death, but the disease is still substantially under-diagnosed. The cornerstone of screening and case detection is the measurement of serum transferrin saturation and the serum ferritin level. Once the diagnosis is suspected, physicians must use serum ferritin levels and hepatic iron stores on liver biopsy specimens to assess patients for the presence of iron overload. […] Liver biopsy is also used to establish the presence or absence of cirrhosis, which can affect prognosis and management. A DNA-based test for the HFE gene is commercially available, but its place in the diagnosis of hemochromatosis is still being evaluated. Currently, the most useful role for this test is in the detection of hemochromatosis in the family members of patients with a proven case of the disease. It is crucial to diagnose hemochromatosis before hepatic cirrhosis develops because phlebotomy therapy can avert serious chronic disease and can even lead to normal life expectancy.

• #3 Hemochromatosis – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/hemochromatosis/diagnosis-treatment/drc-20351448

  Hemochromatosis can be difficult to diagnose. Early symptoms such as stiff joints and fatigue may be due to conditions other than hemochromatosis. […] Many people with the disease don’t have any symptoms other than high levels of iron in their blood. Hemochromatosis may be identified because of irregular blood test results after testing is done for other reasons. It also may be revealed when screening family members of people diagnosed with the disease. […] The two key tests to detect iron overload are: […] Serum transferrin saturation. This test measures the amount of iron bound to the protein transferrin that carries iron in the blood. Transferrin saturation values greater than 45% are considered too high. […] Serum ferritin. This test measures the amount of iron stored in the liver. If the results of a serum transferrin saturation test are higher than usual, a healthcare professional may check serum ferritin levels.

• #4 Hereditary Hemochromatosis | AAFP

  https://www.aafp.org/pubs/afp/issues/2013/0201/p183.html

  Hereditary hemochromatosis is an autosomal recessive disorder that disrupts the body’s regulation of iron. […] Diagnosis requires confirmation of increased serum ferritin levels and transferrin saturation, with or without symptoms. […] All persons with suggestive symptoms, physical findings, or a family history of hereditary hemochromatosis should have transferrin saturation and serum ferritin levels tested. […] The diagnosis of hereditary hemochromatosis requires increased iron stores, with or without symptoms. […] Serum ferritin measurement is the most important prognostic test in persons with hereditary hemochromatosis: a level less than 1,000 ng per mL predicts the absence of cirrhosis. […] HFE mutation analysis has decreased the use of liver biopsy, which is typically reserved to determine the degree of fibrosis or cirrhosis in persons homozygous for C282Y who have a serum ferritin level of at least 1,000 ng per mL.

• #5 Diagnosis and management of hereditary haemochromatosis | British Journal of General Practice

  https://bjgp.org/content/63/611/331

  Hereditary haemochromatosis is an autosomally recessive inherited genetic disorder associated with a defect in the iron regulating hormone hepcidin, causing increased intestinal absorption of iron and subsequent deposition in the liver, pancreas, heart, joints, skin, and gonads. […] A GP list of 2000 patients will have approximately four patients with hereditary haemochromatosis. Despite this, many GPs have never seen a case, although they are often best placed to make a diagnosis. […] GPs should have a high index of suspicion and consider testing for hereditary haemochromatosis in patients presenting with these persistent, vague symptoms. Other presentations include arthropathy, chondrocalcinosis, heart failure, erectile dysfunction, and porphyria cutanea tarda. […] Abnormal liver function tests should result in testing for hereditary haemochromatosis and is the most common route of diagnosis in primary care.

• #6 Hemochromatosis – Diagnosis and treatment – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/hemochromatosis/diagnosis-treatment/drc-20351448

  Hemochromatosis can be difficult to diagnose. Early symptoms such as stiff joints and fatigue may be due to conditions other than hemochromatosis. […] Many people with the disease don’t have any symptoms other than high levels of iron in their blood. Hemochromatosis may be identified because of irregular blood test results after testing is done for other reasons. It also may be revealed when screening family members of people diagnosed with the disease. […] The two key tests to detect iron overload are: […] Serum transferrin saturation. This test measures the amount of iron bound to the protein transferrin that carries iron in the blood. Transferrin saturation values greater than 45% are considered too high. […] Serum ferritin. This test measures the amount of iron stored in the liver. If the results of a serum transferrin saturation test are higher than usual, a healthcare professional may check serum ferritin levels.

• #7 Diagnosis of Hemochromatosis – NIDDK

  https://www.niddk.nih.gov/health-information/liver-disease/hemochromatosis/diagnosis

  Doctors usually diagnose hemochromatosis based on blood test results. Doctors may first suspect hemochromatosis based on a medical and family history, a physical exam, and blood tests. […] Blood tests are critical for the diagnosis of hemochromatosis. In some cases, doctors may also order a liver biopsy. […] A high ratio of iron to transferrin in the blood may suggest a person has hemochromatosis. A high ferritin level is also typical in people who have hemochromatosis. Doctors may also use blood tests for ferritin levels to see if iron levels are improving with treatment. […] Doctors usually order blood tests to check for the gene mutations that cause hemochromatosis. Finding two copies of the HFE gene with the C282Y mutation confirms the diagnosis of primary hemochromatosis. […] In some cases, doctors will use a liver biopsy to confirm that iron overload is present and that no other liver diseases are present. The liver biopsy also shows whether iron overload has caused scarring or permanent damage to the liver.

• #8 Patient education: Hereditary hemochromatosis (Beyond the Basics) – UpToDate

  https://www.uptodate.com/contents/hereditary-hemochromatosis-beyond-the-basics/print

  HEMOCHROMATOSIS DIAGNOSIS […] It is important to diagnose hemochromatosis early because early treatment can prevent complications. Diagnostic tests can help differentiate hemochromatosis from other conditions that cause similar symptoms, such as liver disease due to excess alcohol use. Tests can also determine the severity of hemochromatosis and its complications. […] […] Blood tests — Two blood tests are usually recommended to determine the amount of excess iron in the body. These tests may be done as part of an „iron studies panel.” […] […] Transferrin saturation — Transferrin is a protein that binds iron and transports it between the tissues. Some laboratories use a test called „total iron binding capacity” (TIBC), which essentially measures the same thing. The transferrin saturation (also called TSAT) measures the amount of iron bound to transferrin, which increases as the circulating iron increases. This test is the most sensitive for detecting early hemochromatosis. A TSAT higher than 45 percent should be investigated further. […]

• #9 Hemochromatosis Workup: Approach Considerations, Transferrin Saturation, Serum Ferritin Studies

  https://emedicine.medscape.com/article/177216-workup

  Serum abnormalities of iron metabolism can be seen in 50% of patients with alcoholic liver disease, NASH, or chronic viral hepatitis. […] Development of noninvasive measures of hepatic iron content has generated significant interest. […] Transferrin saturation corresponds to the ratio of serum iron and total iron-binding capacity (TIBC). […] The screening threshold for hemochromatosis is a fasting transferrin saturation of 45-50%. […] Hemochromatosis is suggested by a persistently elevated transferrin saturation in the absence of other causes of iron overload. […] Serum ferritin levels elevated higher than 200 mcg/L in premenopausal women and 300 mcg/L in men and postmenopausal women indicate primary iron overload due to hemochromatosis, especially when associated with high transferrin saturation and evidence of liver disease.

• #10 Patient education: Hereditary hemochromatosis (Beyond the Basics) – UpToDate

  https://www.uptodate.com/contents/hereditary-hemochromatosis-beyond-the-basics/print

  Ferritin — Ferritin is a protein that reflects the body’s stores of iron. Blood ferritin levels increase when the body’s iron stores increase; however, levels of ferritin usually do not rise until iron stores are high. Therefore, the results of this test may be normal early in the course of hemochromatosis. Ferritin above 300 ng/mL in males or above 200 ng/mL in females supports a diagnosis of hemochromatosis. However, ferritin can also be increased by many disorders other than hemochromatosis. Only a small number of people with high ferritin actually have hemochromatosis. […] […] Genetic tests — Genetic testing can reveal the HFE C282Y variant associated with hemochromatosis. H63D is another variant seen in some people with hemochromatosis; however, its relevance to hemochromatosis is limited and controversial. There are also variants in other genes that can (very rarely) cause hemochromatosis, referred to as non-HFE hemochromatosis. […]

• #11 Haemochromatosis – Symptoms, diagnosis and treatment | BMJ Best Practice

  https://bestpractice.bmj.com/topics/en-us/134

  Elevated transferrin saturation is the phenotypic hallmark of the disorder, and diagnosis is confirmed by genetic testing. […] Diagnostic investigations include serum transferrin saturation and serum ferritin. […] Investigations to consider include HFE mutation analysis, serum-based fibrosis tests/transient elastography, MRI liver, liver biopsy, LFTs, fasting blood sugar, echocardiogram, ECG, MRI heart and other organs, testosterone, FSH, and LH assays, and bone densitometry.

• #12 Recognition and Management of Hereditary Hemochromatosis | AAFP

  https://www.aafp.org/pubs/afp/issues/2002/0301/p853.html

  Hereditary hemochromatosis is the most common inherited single-gene disorder in people of northern European descent. […] The diagnosis is based on a combination of clinical, laboratory and pathologic findings, including elevated serum transferrin saturation. […] The diagnosis of hereditary hemochromatosis is based on a combination of clinical, laboratory and pathologic criteria, including an elevated serum transferrin saturation and an elevated serum ferritin concentration. […] An elevated serum transferrin saturation is the earliest phenotypic abnormality in hereditary hemochromatosis. […] Although the serum transferrin saturation is the best initial screening value, results may be normal early in the course of hereditary hemochromatosis. […] The serum ferritin concentration is a sensitive measure of iron overload, but it is also an acute-phase reactant and is therefore elevated in a variety of infectious and inflammatory conditions in the absence of iron overload.

• #13 Hemochromatosis – Rheumatology Advisor

  https://www.rheumatologyadvisor.com/ddi/hemochromatosis/

  Hemochromatosis can be difficult to diagnose, with most patients presenting with symptoms for 10 years before diagnosis. When hemochromatosis is suspected based on symptoms and family history, there are many tests that can be utilized to confirm the diagnosis. […] There is no single hemochromatosis test. […] Serum ferritin concentration and serum transferrin saturation. These are the two key tests to begin diagnosis. In hemochromatosis, ferritin levels are often above 200 mcg/L in women or 300 mcg/L in men, while transferrin saturation is typically higher than 40% in women or 50% in men. Either of these results should lead to further testing. […] Genetic testing for mutations in the HFE gene will confirm the diagnosis in over 90% of cases. […] Due to the hereditary prevalence of the condition, first-degree relatives of hemochromatosis patients should undergo screening and genetic testing as well.

• #14 What are the Tests for Haemochromatosis? – Irish Haemochromatosis Association

  https://haemochromatosis.ie/what-are-the-tests-for-haemochromatosis

  A simple blood test to check your iron status can confirm or rule out iron overload. If both the serum ferritin (SF) and the transferrin saturation (TS) levels are raised, then a genetic test is carried out to confirm the diagnosis. […] SF reflects body iron stores; an SF of >200ug/L in premenopausal women, and >300ug/L in men and postmenopausal women, suggests that the patient may be iron overloaded. This should prompt a test for fasting TS. […] Transferrin saturation above 45% is suggestive of haemochromatosis. […] If the above blood tests suggest that the liver is likely to contain excess iron or other blood tests imply any degree of liver inflammation, then a liver biopsy is performed. […] A simple genetic test result that can identify the mutation in the gene responsible for causing the absorption of too much iron. […] Genetic testing should be performed for C282Y and H63D mutations in the HFE gene. […] Haemochromatosis is inherited in an autosomal manner and to have haemochromatosis you must inherit a faulty gene from each of your parents.

• #15 Patient education: Hereditary hemochromatosis (Beyond the Basics) – UpToDate

  https://www.uptodate.com/contents/hereditary-hemochromatosis-beyond-the-basics

  Ferritin — Ferritin is a protein that reflects the body’s stores of iron. Blood ferritin levels increase when the body’s iron stores increase; however, levels of ferritin usually do not rise until iron stores are high. Therefore, the results of this test may be normal early in the course of hemochromatosis. […] Ferritin above 300 ng/mL in males or above 200 ng/mL in females supports a diagnosis of hemochromatosis. However, ferritin can also be increased by many disorders other than hemochromatosis. Only a small number of people with high ferritin actually have hemochromatosis. […] Genetic tests — Genetic testing can reveal the HFE C282Y variant associated with hemochromatosis. H63D is another variant seen in some people with hemochromatosis; however, its relevance to hemochromatosis is limited and controversial. There are also variants in other genes that can (very rarely) cause hemochromatosis, referred to as non-HFE hemochromatosis.

• #16 Hereditary Hemochromatosis (Iron Overload) Causes & Symptoms

  https://www.medicinenet.com/iron_overload/article.htm

  Consequently, if transferrin saturation is about 45% or higher, the presence of mutations C282Y or H63D should be examined to confirm the diagnosis of hereditary hemochromatosis. […] The most accurate test for diagnosing hemochromatosis used to be the measurement of the iron content of liver tissue obtained by a biopsy. […] The liver biopsy also has prognostic value because it determines whether the patient already has irreversible advanced cirrhosis. […] Currently, most investigators consider the detection of these genes as a diagnosis of hereditary hemochromatosis. […] An algorithm for diagnosing hereditary hemochromatosis is as follows: Adults suspected of having hereditary hemochromatosis (for example, adult, first-degree relatives of a patient with hereditary hemochromatosis) are evaluated by measurements of fasting serum iron, TIBC, transferrin saturation, and ferritin. […] Patients with elevated serum iron, ferritin, and transferrin saturation of greater than 45% are evaluated by genetic testing. […] Patients with transferrin saturation greater than 45% who are C282Y homozygotes have hemochromatosis and, therefore, should be treated with therapeutic phlebotomy.

• #17 Recognition and Management of Hereditary Hemochromatosis | AAFP

  https://www.aafp.org/pubs/afp/issues/2002/0301/p853.html

  Hereditary hemochromatosis is the most common inherited single-gene disorder in people of northern European descent. […] The diagnosis is based on a combination of clinical, laboratory and pathologic findings, including elevated serum transferrin saturation. […] The diagnosis of hereditary hemochromatosis is based on a combination of clinical, laboratory and pathologic criteria, including an elevated serum transferrin saturation and an elevated serum ferritin concentration. […] An elevated serum transferrin saturation is the earliest phenotypic abnormality in hereditary hemochromatosis. […] Although the serum transferrin saturation is the best initial screening value, results may be normal early in the course of hereditary hemochromatosis. […] The serum ferritin concentration is a sensitive measure of iron overload, but it is also an acute-phase reactant and is therefore elevated in a variety of infectious and inflammatory conditions in the absence of iron overload.

• #18 Hemochromatosis Workup: Approach Considerations, Transferrin Saturation, Serum Ferritin Studies

  https://emedicine.medscape.com/article/177216-workup

  Serum abnormalities of iron metabolism can be seen in 50% of patients with alcoholic liver disease, NASH, or chronic viral hepatitis. […] Development of noninvasive measures of hepatic iron content has generated significant interest. […] Transferrin saturation corresponds to the ratio of serum iron and total iron-binding capacity (TIBC). […] The screening threshold for hemochromatosis is a fasting transferrin saturation of 45-50%. […] Hemochromatosis is suggested by a persistently elevated transferrin saturation in the absence of other causes of iron overload. […] Serum ferritin levels elevated higher than 200 mcg/L in premenopausal women and 300 mcg/L in men and postmenopausal women indicate primary iron overload due to hemochromatosis, especially when associated with high transferrin saturation and evidence of liver disease.

• #19 Diagnosis of Hemochromatosis – NIDDK

  https://www.niddk.nih.gov/health-information/liver-disease/hemochromatosis/diagnosis

  Doctors usually diagnose hemochromatosis based on blood test results. Doctors may first suspect hemochromatosis based on a medical and family history, a physical exam, and blood tests. […] Blood tests are critical for the diagnosis of hemochromatosis. In some cases, doctors may also order a liver biopsy. […] A high ratio of iron to transferrin in the blood may suggest a person has hemochromatosis. A high ferritin level is also typical in people who have hemochromatosis. Doctors may also use blood tests for ferritin levels to see if iron levels are improving with treatment. […] Doctors usually order blood tests to check for the gene mutations that cause hemochromatosis. Finding two copies of the HFE gene with the C282Y mutation confirms the diagnosis of primary hemochromatosis. […] In some cases, doctors will use a liver biopsy to confirm that iron overload is present and that no other liver diseases are present. The liver biopsy also shows whether iron overload has caused scarring or permanent damage to the liver.

• #20 Sign up for our monthly newsletter

  https://www.haemochromatosis.org.uk/genetic-haemochromatosis-care-pathway

  The condition is diagnosed through blood tests, which can be arranged by your GP. The tests come in two stages. […] If your initial blood test results are outside normal range, you should then be referred for a subsequent genetic test. […] If your GP discovers that your initial blood tests are outside the normal range, they should arrange a second, genetic test. This will check for the common gene variants of genetic haemochromatosis (known as c282y and H63d). The genetic test will show if you have genetic haemochromatosis or not. […] If a genetic test confirms a diagnosis of genetic haemochromatosis, your doctor will organise a range of additional tests. […] You should be offered a Fibroscan test, which is a type of ultrasound. It assesses the wobbliness (or elasticity) of the liver.

• #21 Management of Hemochromatosis | AASLD

  https://www.aasld.org/practice-guidelines/management-hemochromatosis

  Hereditary hemochromatosis (HH) remains the most common, identified, genetic disorder in Caucasians. […] The principal HFE gene defect was first described in 1996, and is a G-to-A missense mutation leading to the substitution of tyrosine for cysteine at amino acid position 282 of the protein product (C282Y). […] C282Y homozygotes account for 80%-85% of typical patients with HH. […] Over the last 10 years, mutations of other genes coding for iron regulatory proteins have been implicated in inherited iron overload syndromes (e.g., hepcidin, hemojuvelin, transferrin receptor 2, and ferroportin). These are thought to account for most of the non-HFE forms of HH.

• #22 Hemochromatosis – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/hemochromatosis/symptoms-causes/syc-20351443

  Hemochromatosis (he-moe-kroe-muh-TOE-sis) is a condition that causes the body to absorb too much iron from food. Excess iron is stored in the organs, especially the liver, heart and pancreas. […] Genetic testing can check if you have the gene that increases your risk of hemochromatosis. […] A gene called HFE is most often the cause of hereditary hemochromatosis. […] Genetic testing can reveal whether you have these changes in your HFE gene.

• #23 Recognition and Management of Hereditary Hemochromatosis | AAFP

  https://www.aafp.org/pubs/afp/issues/2002/0301/p853.html

  The HFE gene test is useful in confirming the diagnosis of hereditary hemochromatosis, screening adult family members of patients with HFE mutations and resolving ambiguities concerning iron overload. […] HFE gene testing may eliminate the need for liver biopsy in many patients. […] In patients with iron overload who are homozygous for the C282Y mutation, liver biopsy may be unnecessary to confirm the diagnosis of hereditary hemochromatosis. […] The role of HFE mutation analysis in the diagnosis of iron overload disorders is summarized in Figure 2. […] The HFE gene test is most useful for screening adult family members of an identified proband.

• #24 Hemochromatosis Workup: Approach Considerations, Transferrin Saturation, Serum Ferritin Studies

  https://emedicine.medscape.com/article/177216-workup

  Genetic tests for the C282Y and H63D mutations are widely available. […] Genetic testing for the HFE mutation is indicated in all first-degree relatives of patients with hemochromatosis and also in patients with evidence of iron overload. […] Currently, the diagnosis can be confidently based on genetic testing for the C282Y mutation; thus, liver biopsy is no longer essential for diagnosis in many cases. […] According to guidelines that were developed for the diagnosis and management of hereditary hemochromatosis, a liver biopsy is indicated in the following cases: (1) elevated liver enzymes in combination with hereditary hemochromatosis, and (2) serum ferritin levels greater than 1000 mcg/L. […] Liver biopsy should also be considered in compound or C282Y heterozygotes with elevated TS, particularly those who have had abnormal liver enzyme levels or clinical evidence of liver disease. […] Histologic evaluation liver and gallbladder biopsies with Perls Prussian blue staining shows a characteristic pattern of hepatic accumulation.

• #25 Haemochromatosis – Haemochromatosis Australia

  https://haemochromatosis.org.au/haemochromatosis/

  Hereditary haemochromatosis is diagnosed by simple blood tests. Your doctor may order the tests if your symptoms indicate haemochromatosis is possible or if you become aware a close relative has been diagnosed with the condition. […] These blood tests look for two indicators that signal someone may have haemochromatosis. They measure Transferrin Saturation and Serum Ferritin. They are usually a fasting blood test. […] If the results of these tests are above the reference range, they are repeated. If the second test again exceeds the range, a genetic blood test is necessary to confirm haemochromatosis. […] The gene associated with haemochromatosis is known as HFE. […] Haemochromatosis occurs when the genetic test shows they are homozygous, that is they have two faulty copies of the HFE gene.

• #26 Hereditary Haemochromatosis (Causes, Symptoms, and Treatment)

  https://patient.info/doctor/hereditary-haemochromatosis

  Investigations and diagnosis of hereditary haemochromatosis involves assessment of iron overload, genetics and organ damage. These tests need careful interpretation. […] HFE testing for the C282Y and H63D polymorphism should be carried out in all patients with otherwise unexplained increased serum ferritin and increased transferrin saturation. […] C282Y homozygosity is required for the diagnosis of HFE-HC, when iron stores are increased. […] Diagnosis of HFE haemochromatosis should not be based on C282Y homozygosity alone but requires evidence of increased iron stores. […] In C282Y homozygote patients with increased iron stores, liver biopsy is no longer necessary to diagnose haemochromatosis. […] It is now rarely required because genetic testing for HFE mutations is very reliable in the diagnosis of haemochromatosis in Caucasians and the majority of patients with haemochromatosis are now diagnosed at an early stage, well before permanent tissue damage occurs.

• #27 Haemochromatosis – Haemochromatosis Australia

  https://haemochromatosis.org.au/haemochromatosis/

  A person who has only one faulty copy is heterozygous and will not experience any symptoms but is known as a carrier because they may pass the condition to a child. […] It is important that immediate family members know if they are at risk of developing iron overload. Parents, children, brothers and sisters should have the genetic test.

• #28

  https://www.nhs.uk/conditions/haemochromatosis/diagnosis/

  Haemochromatosis can usually be diagnosed with blood tests. […] Several blood tests are needed to diagnose haemochromatosis. […] If your blood tests suggest haemochromatosis, you’ll have a test to see if your DNA carries the gene associated with the condition. […] These tests will help show if you have haemochromatosis, if you’re a carrier of a faulty gene linked to the condition, or if you might have another condition that causes high iron levels. […] If blood tests show that you have haemochromatosis, you may need to have some further tests to check if the condition has caused any organ damage, particularly damage to your liver.

• #29 Patient education: Hereditary hemochromatosis (Beyond the Basics) – UpToDate

  https://www.uptodate.com/contents/hereditary-hemochromatosis-beyond-the-basics

  TESTS TO DIAGNOSE TISSUE IRON OVERLOAD […] Once a person has blood tests that show excess iron in their body, other tests are used to determine how much iron has been deposited in tissues such as the liver or heart. […] MRI methods — Magnetic resonance imaging (MRI) methods called R2, R2*, or T2* are most commonly used to determine levels of accumulation of iron in the liver and heart. […] Liver biopsy — A liver biopsy can be used to determine if the liver is affected by iron overload. This test is most useful if other causes of liver disease are being considered. In many straightforward cases, a liver biopsy is not necessary.

• #30 Hemochromatosis | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/haemochromatosis?lang=us

  Hemochromatosis is an iron overload disorder characterized by a progressive increase in total body iron stores and deposition of iron in some non-reticuloendothelial system (RES) body organs which results in some instances of organ dysfunction. […] In men, the diagnosis usually becomes evident in middle age (30-40 years of age) whereas, in women, clinical manifestation is delayed until the post-menopausal period. […] MRI is not only the most sensitive imaging modality for the diagnosis of hemochromatosis but is also able to estimate iron concentration within the liver, thus forestalling the need for repeated biopsies. […] In primary hemochromatosis, spleen and bone marrow signal is typically normal and low pancreatic signal is usually only seen if there is cirrhosis. […] Quantitative MR techniques for measuring iron deposition have been developed, consisting of multiple gradient-echo sequences with progressively increasing TEs. The degree to which signal drops can then be plotted and an estimate of iron concentration generated.

• #31 What is haemochromatosis? – BHF

  https://www.bhf.org.uk/informationsupport/heart-matters-magazine/medical/haemochromatosis

  No, there are lots of causes of a raised ferritin, but genetic haemochromatosis is one of them and your doctor should refer you for further genetic testing if your ferritin is persistently raised (or refer to a doctor that can) to determine if that is the cause. […] Your doctor may well do further blood tests, for example to test the thyroid and sex hormones such as testosterone and oestrogen, and to check if you may have diabetes. […] Looking for iron in the heart and liver is more complex and is done using MRI scanners with specialised technology in order to analyse the data, or sometimes a liver biopsy. […] Generally we look at the ferritin, and those patients who have higher ferritin (above 1,000 micrograms per litre) may require closer monitoring after the initial phase of treatment as they are more likely to develop long term problems, particularly of the liver.

• #32 Hemochromatosis | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/haemochromatosis?lang=us

  Hemochromatosis is an iron overload disorder characterized by a progressive increase in total body iron stores and deposition of iron in some non-reticuloendothelial system (RES) body organs which results in some instances of organ dysfunction. […] In men, the diagnosis usually becomes evident in middle age (30-40 years of age) whereas, in women, clinical manifestation is delayed until the post-menopausal period. […] MRI is not only the most sensitive imaging modality for the diagnosis of hemochromatosis but is also able to estimate iron concentration within the liver, thus forestalling the need for repeated biopsies. […] In primary hemochromatosis, spleen and bone marrow signal is typically normal and low pancreatic signal is usually only seen if there is cirrhosis. […] Quantitative MR techniques for measuring iron deposition have been developed, consisting of multiple gradient-echo sequences with progressively increasing TEs. The degree to which signal drops can then be plotted and an estimate of iron concentration generated.

• #33 Pathogenesis, Diagnosis, and Clinical Implications of Hereditary Hemochromatosis—The Cardiological Point of View

  https://www.mdpi.com/2075-4418/11/7/1279

  The following cut-off points are used for diagnosis of the pathological iron accumulation syndrome: ferritin >200 ng/mL for premenopausal women, >300 ng/mL for men and postmenopausal women, and transferrin saturation >45%. […] The essential laboratory parameter in HH assessment is NTBI level, which, due to the participation of these molecules in the generation of oxidative stress damaging the tissues, is particularly important. […] Electrocardiography is not a valuable and specific tool for HH diagnosis in asymptomatic or scantily symptomatic patients. […] Standard echocardiography is a well-known non-invasive method for revealing cardiac abnormalities. […] Two-dimensional (2D) STE is a novel technique of advanced echocardiography based on acoustic marker tracking methods, which seem more precise and distinctive than traditional echocardiography for detecting subtle myocardial abnormalities. […] CMR is a sensitive and specific tool in the diagnosis of cardiac abnormalities due to HH. […] Biopsy of the heart, contrary to a liver biopsy, an essential diagnostic method of liver injury in HH, is not routinely performed to evaluate cardiac abnormalities.

• #34 Hemochromatosis Workup: Approach Considerations, Transferrin Saturation, Serum Ferritin Studies

  https://emedicine.medscape.com/article/177216-workup

  Genetic tests for the C282Y and H63D mutations are widely available. […] Genetic testing for the HFE mutation is indicated in all first-degree relatives of patients with hemochromatosis and also in patients with evidence of iron overload. […] Currently, the diagnosis can be confidently based on genetic testing for the C282Y mutation; thus, liver biopsy is no longer essential for diagnosis in many cases. […] According to guidelines that were developed for the diagnosis and management of hereditary hemochromatosis, a liver biopsy is indicated in the following cases: (1) elevated liver enzymes in combination with hereditary hemochromatosis, and (2) serum ferritin levels greater than 1000 mcg/L. […] Liver biopsy should also be considered in compound or C282Y heterozygotes with elevated TS, particularly those who have had abnormal liver enzyme levels or clinical evidence of liver disease. […] Histologic evaluation liver and gallbladder biopsies with Perls Prussian blue staining shows a characteristic pattern of hepatic accumulation.

• #35 Sign up for our monthly newsletter

  https://www.haemochromatosis.org.uk/genetic-haemochromatosis-care-pathway

  The condition is diagnosed through blood tests, which can be arranged by your GP. The tests come in two stages. […] If your initial blood test results are outside normal range, you should then be referred for a subsequent genetic test. […] If your GP discovers that your initial blood tests are outside the normal range, they should arrange a second, genetic test. This will check for the common gene variants of genetic haemochromatosis (known as c282y and H63d). The genetic test will show if you have genetic haemochromatosis or not. […] If a genetic test confirms a diagnosis of genetic haemochromatosis, your doctor will organise a range of additional tests. […] You should be offered a Fibroscan test, which is a type of ultrasound. It assesses the wobbliness (or elasticity) of the liver.

• #36 Haemochromatosis – Symptoms, diagnosis and treatment | BMJ Best Practice

  https://bestpractice.bmj.com/topics/en-us/134

  Elevated transferrin saturation is the phenotypic hallmark of the disorder, and diagnosis is confirmed by genetic testing. […] Diagnostic investigations include serum transferrin saturation and serum ferritin. […] Investigations to consider include HFE mutation analysis, serum-based fibrosis tests/transient elastography, MRI liver, liver biopsy, LFTs, fasting blood sugar, echocardiogram, ECG, MRI heart and other organs, testosterone, FSH, and LH assays, and bone densitometry.

• #37 Hemochromatosis | Cleveland Clinic

  https://my.clevelandclinic.org/departments/digestive/medical-professionals/hepatology/hemochromatosis

  The diagnostic approach to HH may be targeted at distinct populations. […] Because it is agreed that clinical HH is the result of iron overload, the diagnosis is based on the documentation of increased iron storesnamely, increased hepatic iron concentrations associated with elevated serum ferritin levels. […] Now, with the availability of mutational analysis, HH may be further defined genotypically in a first-degree relative by the finding of C282Y homozygosity or C282Y-H63D compound heterozygosity. […] The initial step in the diagnostic approach to HH is the fasting transferrin iron saturation (TS). […] The second stage in the algorithm is genetic mutation analysis for the C282Y and H63D mutations of the HFE gene. […] The third step of the algorithm advances evaluation through therapeutic phlebotomy. […] It is therefore important to emphasize that the value of liver biopsy is not limited to determination of the HIC.

• #38 Hereditary Hemochromatosis (Iron Overload) Causes & Symptoms

  https://www.medicinenet.com/iron_overload/article.htm

  Consequently, if transferrin saturation is about 45% or higher, the presence of mutations C282Y or H63D should be examined to confirm the diagnosis of hereditary hemochromatosis. […] The most accurate test for diagnosing hemochromatosis used to be the measurement of the iron content of liver tissue obtained by a biopsy. […] The liver biopsy also has prognostic value because it determines whether the patient already has irreversible advanced cirrhosis. […] Currently, most investigators consider the detection of these genes as a diagnosis of hereditary hemochromatosis. […] An algorithm for diagnosing hereditary hemochromatosis is as follows: Adults suspected of having hereditary hemochromatosis (for example, adult, first-degree relatives of a patient with hereditary hemochromatosis) are evaluated by measurements of fasting serum iron, TIBC, transferrin saturation, and ferritin. […] Patients with elevated serum iron, ferritin, and transferrin saturation of greater than 45% are evaluated by genetic testing. […] Patients with transferrin saturation greater than 45% who are C282Y homozygotes have hemochromatosis and, therefore, should be treated with therapeutic phlebotomy.

• #39 Diagnosis and management of hereditary haemochromatosis | British Journal of General Practice

  https://bjgp.org/content/63/611/331

  If hereditary haemochromatosis is suspected, serum ferritin and transferrin saturation levels should be requested. Ferritin levels are raised and transferrin saturation 45% in presence of the disease. […] The next step is to determine the HFE genotype in those patients with a suggestive clinical presentation and blood parameters, although in practice referral to a specialist, usually a gastroenterologist is indicated. […] All patients with C282Y homozygosity, even if asymptomatic, should be treated and have regular follow up by a gastroenterologist, as it is currently not possible to predict that patients will go on to express the full manifestations of the disease. […] Evidence shows that initiating phlebotomy prior to the establishment of liver cirrhosis significantly reduces morbidity and mortality and patients without cirrhosis can expect to have a normal life expectancy. […] Siblings of patients with HFE-haemochromatosis should be screened with serum ferritin and transferrin saturation and ideally these individuals should undergo HFE genotyping after appropriate counselling.

• #40 Hereditary Hemochromatosis – Hematology and Oncology – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/hematology-and-oncology/iron-overload/hereditary-hemochromatosis

  Hereditary hemochromatosis is a genetic disorder characterized by excessive iron (Fe) accumulation that results in tissue damage. […] Diagnosis is by elevated serum ferritin, iron, and transferrin saturation levels and confirmed by a gene assay. […] Symptoms and signs may be nonspecific, subtle, and of gradual onset, so that index of suspicion should be high. Hereditary hemochromatosis should be suspected when typical manifestations, particularly combinations of such manifestations, remain unexplained after routine evaluation. […] Serum ferritin measurement is the simplest and most direct initial test. Elevated levels ( 200 ng/mL [ 200 mcg/L] in females or 250 ng/mL [ 250 mcg/L] in males) are usually present in hereditary hemochromatosis but can result from other abnormalities. […] Gene assay is diagnostic for hereditary hemochromatosis caused by HFE gene mutations. […] When the diagnosis is confirmed, the liver must be tested for fibrosis and cirrhosis. […] Screening is required for first-degree relatives of people with hereditary hemochromatosis by measuring serum ferritin levels and testing for the C282Y and H63D mutations in the HFE gene.

• #41 Hemochromatosis – Rheumatology Advisor

  https://www.rheumatologyadvisor.com/ddi/hemochromatosis/

  Hemochromatosis can be difficult to diagnose, with most patients presenting with symptoms for 10 years before diagnosis. When hemochromatosis is suspected based on symptoms and family history, there are many tests that can be utilized to confirm the diagnosis. […] There is no single hemochromatosis test. […] Serum ferritin concentration and serum transferrin saturation. These are the two key tests to begin diagnosis. In hemochromatosis, ferritin levels are often above 200 mcg/L in women or 300 mcg/L in men, while transferrin saturation is typically higher than 40% in women or 50% in men. Either of these results should lead to further testing. […] Genetic testing for mutations in the HFE gene will confirm the diagnosis in over 90% of cases. […] Due to the hereditary prevalence of the condition, first-degree relatives of hemochromatosis patients should undergo screening and genetic testing as well.

• #42 Delayed or Incorrect Diagnosis of Hemochromatosis | Free Consultation | Cullan & Cullan

  https://www.doctorspracticinglaw.com/areas-we-serve/omaha/medical-malpractice-lawyers/delayed-diagnosis/delayed-or-incorrect-diagnosis-of-hemochromatosi/

  Delayed or Incorrect Diagnosis of Hemochromatosis […] Several different tests exist to help doctors determine whether a patient has hemochromatosis and, if so, whether genetics or another illness is causing the condition. […] A delayed diagnosis or a misdiagnosis that attributes the patients symptoms to something other than hemochromatosis robs the patient of valuable time, time that may be necessary to prevent serious injury or death.

• #43 About Hereditary Hemochromatosis | Hereditary Hemochromatosis | CDC

  https://www.cdc.gov/hereditary-hemochromatosis/about/index.html

  Early diagnosis and treatment are critical to prevent complications from the disease. […] A blood test can be used to screen people who may have hemochromatosis by measuring how much iron is in their blood. […] Affected people with or without a known family history of hemochromatosis can be diagnosed through blood tests for excess iron in the body (called iron overload) followed by genetic testing. […] The earlier hemochromatosis is diagnosed, the less likely you are to develop serious complicationsmany of which can cause permanent problems.

• #44 Hemochromatosis (Iron Overload): Causes, Symptoms, Treatment, Diet & More

  https://my.clevelandclinic.org/health/diseases/14971-hemochromatosis-iron-overload

  Hemochromatosis, or iron overload, is a condition in which your body stores too much iron. […] You cant prevent the disease, but early diagnosis and treatment can avoid, slow or reverse organ damage. […] If you potentially have hemochromatosis, your healthcare provider will: […] Your healthcare provider may order: […] Diet changes and other treatments can help ease the symptoms of hemochromatosis. […] You cant prevent hemochromatosis, but you can get help controlling your iron levels. […] The outlook for hemochromatosis depends on the timing of diagnosis and treatment. […] But hemochromatosis is also a manageable disease. […] If you are diagnosed with hemochromatosis, you’ll need to have some blood withdrawn once a week to start. […] Talk to your healthcare provider if you have symptoms of hemochromatosis or a family history of it.

• #45 Diagnosis and management of hereditary haemochromatosis | British Journal of General Practice

  https://bjgp.org/content/63/611/331

  Hereditary haemochromatosis is an autosomally recessive inherited genetic disorder associated with a defect in the iron regulating hormone hepcidin, causing increased intestinal absorption of iron and subsequent deposition in the liver, pancreas, heart, joints, skin, and gonads. […] A GP list of 2000 patients will have approximately four patients with hereditary haemochromatosis. Despite this, many GPs have never seen a case, although they are often best placed to make a diagnosis. […] GPs should have a high index of suspicion and consider testing for hereditary haemochromatosis in patients presenting with these persistent, vague symptoms. Other presentations include arthropathy, chondrocalcinosis, heart failure, erectile dysfunction, and porphyria cutanea tarda. […] Abnormal liver function tests should result in testing for hereditary haemochromatosis and is the most common route of diagnosis in primary care.

• #46

  https://www.nhs.uk/conditions/haemochromatosis/

  Haemochromatosis is an inherited condition where iron levels in the body slowly build up over many years. […] See a GP if you have persistent or worrying symptoms that could be caused by haemochromatosis particularly if you have a northern European family background. […] Talk to the GP about whether you should have blood tests to check for haemochromatosis. […] If the condition is diagnosed and treated early on, haemochromatosis does not affect life expectancy and is unlikely to result in serious problems.

• #47 Diagnosis of hemochromatosis – PubMed

  https://pubmed.ncbi.nlm.nih.gov/9867744/

  If untreated, hemochromatosis can cause serious illness and early death, but the disease is still substantially under-diagnosed. The cornerstone of screening and case detection is the measurement of serum transferrin saturation and the serum ferritin level. Once the diagnosis is suspected, physicians must use serum ferritin levels and hepatic iron stores on liver biopsy specimens to assess patients for the presence of iron overload. […] Liver biopsy is also used to establish the presence or absence of cirrhosis, which can affect prognosis and management. A DNA-based test for the HFE gene is commercially available, but its place in the diagnosis of hemochromatosis is still being evaluated. Currently, the most useful role for this test is in the detection of hemochromatosis in the family members of patients with a proven case of the disease. It is crucial to diagnose hemochromatosis before hepatic cirrhosis develops because phlebotomy therapy can avert serious chronic disease and can even lead to normal life expectancy.

• #48 Hemochromatosis: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/177216-overview

  Hemochromatosis is the abnormal accumulation of iron in parenchymal organs, leading to organ toxicity. It is the most common autosomal recessive genetic disorder and the most common cause of severe iron overload. […] The diagnosis of hemochromatosis is based on clinical features of the disease. Most patients are asymptomatic and are diagnosed when elevated serum iron levels are noted on a routine chemistry screening panel or when screening is performed because a relative is diagnosed with hemochromatosis. […] Laboratory studies used in evaluating suspected hemochromatosis include the following: Genetic testing: Examination of HFE mutations (C282Y, H63D) is pivotal for diagnosis of hemochromatosis. […] The use of liver biopsy in hereditary hemochromatosis can be restricted to those patients with a high probability of severe fibrosis or cirrhosis.

• #49 Hereditary Hemochromatosis | AAFP

  https://www.aafp.org/pubs/afp/issues/2013/0201/p183.html

  All patients with homozygous hereditary hemochromatosis and evidence of iron overload should be treated, regardless of symptoms. […] The standard of care is phlebotomy to reduce total body iron levels and achieve normal ferritin levels. […] The AASLD, American Academy of Family Physicians, Centers for Disease Control and Prevention, and U.S. Preventive Services Task Force recommend against universal genetic screening for hereditary hemochromatosis.

• #50 Haemochromatosis – British Liver Trust

  https://britishlivertrust.org.uk/information-and-support/liver-conditions/haemochromatosis/

  Diagnostic technology has been developed specifically for iron-overloading disease. […] Treatment of haemochromatosis is simply aimed at removing iron from your body. […] During phlebotomy a unit of blood, usually 450 millitres (ml), is removed. […] After your course of treatment you will need to have further phlebotomies two to four times a year for the rest of your life. […] If you have a family history of haemochromatosis, you should see a medical professional as soon as you can. […] Genetic counselling can help you to better understand the likely occurrence of haemochromatosis in your family or explain the implications of any diagnosis.

• #51 Haemochromatosis – Haemochromatosis Australia

  https://haemochromatosis.org.au/haemochromatosis/

  A person who has only one faulty copy is heterozygous and will not experience any symptoms but is known as a carrier because they may pass the condition to a child. […] It is important that immediate family members know if they are at risk of developing iron overload. Parents, children, brothers and sisters should have the genetic test.

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