Presentation
The present study of 19 families with African iron overload failed to show evidence that the ferroportin (Q248H) mutation is responsible for the condition. [ncbi.nlm.nih.gov]
Further, the present results do not prove that the present subjects with heavy liver iron staining had systemic iron overload. [bmcclinpathol.biomedcentral.com]
HLA haplotype analysis in the present cases and a review of HLA haplotype frequencies in various populations made it possible to determine the probable ethnic/racial origins of the HFE mutations in both of the present patients. [nature.com]
Entire Body System
- Congestive Heart Failure
heart failure • Growth/sexual development reduced in children • Liver showing cirrhosis and haemosiderosis • Excessive melanin skin pigmentation • Excessive infections • Arthropathy in genetic hemochromatosis caused by pyrophosphate deposition Give some [quizlet.com]
Reema Batra, an oncologist/hematologist affiliated with Sharp Grossmont Hospital, said if iron continues to accumulate without checks or balances, it can cause liver disease and congestive heart failure. Dr. [sandiegouniontribune.com]
Heart problems. Excess iron in your heart affects the heart's ability to circulate enough blood for your body's needs. This is called congestive heart failure. Hemochromatosis can also cause abnormal heart rhythms (arrhythmias). [mayoclinic.org]
Heart: congestive heart failure, irregular heartbeat and atherosclerosis. Skin: bronze or gray discoloration. Joints: arthritis. Brain: Excess iron may possibly play a role in certain psychological problems. [health24.com]
blindness, and heart problems Congestive heart failure, if too much iron builds up in the heart and the body cannot circulate enough blood to meet its needs Irregular heart rhythms, or arrhythmias, leading to chest pain, palpitations and dizziness. [medicalnewstoday.com]
- Asymptomatic
Simple screening tests, such as serum transferrin saturation and ferritin concentrations, can be helpful in discovering asymptomatic patients with iron overload. [diagnose-me.com]
The advent of genetic testing in the late 1990’s allowed people of a variety of ages – both symptomatic and asymptomatic – to be screened for hereditary hemochromatosis and researchers quickly noted that although having two mutations seemed to elevate [blog.23andme.com]
Asymptomatic patients who are homozygous for C282Y should be monitored annually and treated if serum ferritin becomes elevated. [arupconsult.com]
Presentation Early diagnosis is difficult because HHC is often asymptomatic until the late stages of disease. [patient.info]
Expert societies recommend screening of asymptomatic and symptomatic individuals with hemochromatosis by obtaining transferrin saturation (calculated as serum iron/total iron binding capacity × 100). [karger.com]
- Weight Loss
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Common early symptoms may include: Fatigue and lack of energy Abdominal pains Joint pain (especially in the hands, feet, hips and knees) Chronically sore muscles Decreased sex drive Heart problems Unexplained weight loss Many people with iron overload [health24.com]
[…] bronzed, like a suntan Tiredness or fatigue Weakness Weight loss In time, the following conditions may develop: Arthritis Cirrhosis of the liver Diabetes Enlargement of the liver Heart disease Pancreatitis Around 75 percent of patients who have started [medicalnewstoday.com]
He reported no fever, chest pain, dizziness, syncope, rash or weight loss. His medical history included hypertension, diabetes mellitus and hyperlipidemia. [karger.com]
Respiratoric
- Cough
He had intermittent cough productive of white sputum and wheezing. He was anxious and tremulous. Since the onset of symptoms his exercise tolerance had declined from a baseline of more than ten blocks to two blocks. [karger.com]
Gastrointestinal
- Nausea
[…] an enzyme deficiency that affects glycogen metabolism Sickle cell anemia Thalassemia, a disorder in which the body produces an abnormal type of hemoglobin If there is too much iron in your drinking water, you may begin to experience stomach cramps, nausea [advancedwatersoftening.com]
Early symptoms of iron poisoning may include stomach pain, nausea and vomiting. Gradually, the excess iron accumulates in internal organs, causing potentially fatal damage to the brain and liver. [healthline.com]
Phlebotomy cannot reverse the symptoms of cirrhosis, but it can improve symptoms such as nausea, abdominal pain, and fatigue. It may improve heart function and joint pain. [medicalnewstoday.com]
Likely causes for noncompliance with deferasirox therapy are nausea, vomiting, stomach upsets, and the chalky taste, all of which are common yet less serious side effects. [clinicaladvisor.com]
- Vomiting
[…] enzyme deficiency that affects glycogen metabolism Sickle cell anemia Thalassemia, a disorder in which the body produces an abnormal type of hemoglobin If there is too much iron in your drinking water, you may begin to experience stomach cramps, nausea, vomiting [advancedwatersoftening.com]
Early signs of iron poisoning within 6 hours include vomiting and diarrhea, fever, hyperglycemia, and leukocytosis. Later signs include hypotension, metabolic acidosis, lethargy, seizures, and coma. [library.med.utah.edu]
Early symptoms of iron poisoning may include stomach pain, nausea and vomiting. Gradually, the excess iron accumulates in internal organs, causing potentially fatal damage to the brain and liver. [healthline.com]
Likely causes for noncompliance with deferasirox therapy are nausea, vomiting, stomach upsets, and the chalky taste, all of which are common yet less serious side effects. [clinicaladvisor.com]
Cardiovascular
- Heart Failure
Heart problems. Excess iron in your heart affects the heart's ability to circulate enough blood for your body's needs. This is called congestive heart failure. Hemochromatosis can also cause abnormal heart rhythms (arrhythmias). [mayoclinic.org]
Excess iron in vital organs, even in mild cases of iron overload, increases the risk for liver disease (cirrhosis, cancer), heart attack or heart failure, diabetes mellitus, osteoarthritis, osteoporosis, metabolic syndrome, hypothyroidism, hypogonadism [blackdoctor.org]
failure • Growth/sexual development reduced in children • Liver showing cirrhosis and haemosiderosis • Excessive melanin skin pigmentation • Excessive infections • Arthropathy in genetic hemochromatosis caused by pyrophosphate deposition Give some lab [quizlet.com]
High levels of serum ferritin in conjunction with the clinical findings of heart failure, hepatomegaly and diabetes mellitus suggested an iron overload state. [karger.com]
Reema Batra, an oncologist/hematologist affiliated with Sharp Grossmont Hospital, said if iron continues to accumulate without checks or balances, it can cause liver disease and congestive heart failure. Dr. [sandiegouniontribune.com]
- Heart Disease
The surplus iron is stored in the liver, heart, pancreas, and other organs. Damage to the pancreas can lead to diabetes. Hereditary hemochromatosis can also lead to cancer and heart disease. [medicalnewstoday.com]
Other less common findings may include heart disease, high blood pressure, fluid accumulation in abdominal area, osteoporosis, and diabetes. [diseaseinfosearch.org]
Association with heart disease, elevated sugar or diabetes and increased pigmentation has been described. [irondisorders.org]
Discussion Iron overload can manifest as fatigue, joint pain, liver disease, heart disease, hypogonadism, diabetes mellitus and skin pigmentation (bronze skin). [karger.com]
Liver, Gall & Pancreas
- Liver Dysfunction
Transferrin saturation above normal range in male and female also need additional testing.Chemical evidence of tissue vitamin C deficiency and mild to moderate liver dysfunction are likely to be seen in individuals with African iron overload. [en.wikipedia.org]
Musculoskeletal
- Arthralgia
Testing should be considered in patients with unexplained chronic liver disease and increased serum transferrin saturation, porphyria cutanea tarda, well-defined chondrocalcinosis, hepatocellular carcinoma, arthralgia, cardiomyopathy, and type 1 diabetes [arupconsult.com]
HFE testing could be considered in patients with: Porphyria cutanea tarda Well-defined chondrocalcinosis Hepatocellular carcinoma Type 1 diabetes HFE testing is not recommended in patients with unexplained arthritis or arthralgia or with type 2 diabetes [patient.info]
Psychiatrical
- Loss of Libido
Hypogonadism is common in both sexes and can lead to loss of libido, impotence, amenorrhea, testicular atrophy, and loss of body hair. Arthropathy is present in up to 50% of symptomatic patients. [diagnose-me.com]
If the condition advances, the main symptoms include: Abdominal pain Females may stop menstruating High blood sugar levels Hypothyroidism, or low thyroid function Loss of libido, or sex drive, and male impotence Reduction in size of testicles Skin becomes [medicalnewstoday.com]
Neurologic
- Dizziness
Symptoms of low iron include: Tiredness Dizziness Weakness Headaches Pale skin Fast heartbeat Symptoms of high iron include: Joint pain Tiredness Weakness or a lack of energy Stomach pain Types of Iron Blood Tests There are several different tests to [webmd.com]
[…] kidney failure, blindness, and heart problems Congestive heart failure, if too much iron builds up in the heart and the body cannot circulate enough blood to meet its needs Irregular heart rhythms, or arrhythmias, leading to chest pain, palpitations and dizziness [medicalnewstoday.com]
He reported no fever, chest pain, dizziness, syncope, rash or weight loss. His medical history included hypertension, diabetes mellitus and hyperlipidemia. [karger.com]
Treatment
Significant updates on bariatric surgery, Barrett's esophagus, endoscopic ultrasound, endosonography, treatment of liver disease, and much more keep you current on the latest advances. [books.google.de]
With this type of treatment, Dr. Italiano said fatigue typically improves, as does skin color, cardiac function and liver function. However, Dr. [sandiegouniontribune.com]
Share your finds with others. 0 0 Post New Thread Discussions: 0 Messages: 0 TREATMENTS Drugs, supplements, therapies and treatments based on scientific studies. 0 0 Post New Thread Discussions: 0 Messages: 0 NATURAL TREATMENTS Treatments scientifically [diseasemaps.org]
Prognosis
Prognosis - Bantu siderosis In Bantu siderosis, the resulting iron overload can eventually damage tissues and organs. Iron overload in the liver may lead to chronic liver disease (cirrhosis). [checkorphan.org]
When HHC is found early and properly managed, long-term prognosis, including life expectancy, should not differ from that of persons without the disorder. [diagnose-me.com]
Prognosis [ 3 ] C282Y homozygous patients with clinically ascertained HC have an increased risk of developing liver disease and hepatocellular carcinoma. [patient.info]
In one series of patients who presented with cardiomyopathy associated with hemochromatosis, therapeutic phlebotomy improved the prognosis in 70%; untreated patients had a worsening of their condition and mean survival of only one year. [library.med.utah.edu]
Prognosis of this disease depends on the organ damage at diagnosis. When disease such as HH is diagnosed by genetic testing, ferritin and TS can be periodically monitored and intervention can be planned before organ damage occurs. [clinicaladvisor.com]
Etiology
Wei‐Chen Lee and Miin‐Fu Chen, Epidemiology, Etiology, and Natural History of Hepatocellular Carcinoma, Malignant Liver Tumors, (52-55), (2009). [doi.org]
Abstract Although HLA-linked hemochromatosis greatly increases the risk for hepatocellular carcinoma in people of European ancestry, iron overload in Africa is not thought to be etiologically related to this malignancy. [ncbi.nlm.nih.gov]
Etiology Hereditary Hemochromatosis HFE-Related C282Y Homozygosity C282Y/H63D Compound Heterozygosity Other Mutations of HFE Non-HFE-Related Juvenile Hemochromatosis Autosomal Dominant Hemochromatosis (Solomon Islands) Secondary Iron Overload Iron-Loading [mdnxs.com]
Iron overload, irrespective of the underlying etiology, has varying manifestations, depending on the organs affected by the excessive iron deposit. [karger.com]
Epidemiology
In 57 in-depth chapters they cover all aspects of pathophysiology, epidemiology, diagnosis and treatment. [books.google.com]
L… One Citation Epidemiology and aetiology of hepatocellular carcinoma in Sub-Saharan Africa D. MakA. [semanticscholar.org]
Wei‐Chen Lee and Miin‐Fu Chen, Epidemiology, Etiology, and Natural History of Hepatocellular Carcinoma, Malignant Liver Tumors, (52-55), (2009). [doi.org]
Early diagnosis and treatment are therefore essential. [ 1 ] Aetiology and epidemiology [ 2 ] Defects of the HFE gene (located on the short arm of chromosome 6) cause the majority of cases of inherited haemochromatosis, which is therefore often referred [patient.info]
Epidemiology: The prevalance of HH, especially its classic form, is very high in white populations. The prevalance rate in Americans is roughly 1/200 for homozygosity, 1/50 for compound heterozygosity, and 1/10 for heterozygosity. [clinicaladvisor.com]
Pathophysiology
Adewoye, Pathophysiology of iron overload-induced renal injury and dysfunction: Roles of renal oxidative stress and systemic inflammatory mediators, Pathophysiology, 10.1016/j.pathophys.2019.03.002, (2019). William C. [doi.org]
In 57 in-depth chapters they cover all aspects of pathophysiology, epidemiology, diagnosis and treatment. [books.google.com]
(See “Pathophysiology and diagnosis of iron overload syndromes”, section on ‘High levels of ferritin in the absence of iron overload’ and “Clinical features and diagnosis of hemophagocytic lymphohistiocytosis”, section on ‘Serum ferritin levels’.) — # [mdnxs.com]
Prevention
Finley, Chemical Versus Food Forms of Selenium in Cancer Prevention, Functional Foods & Nutraceuticals in Cancer Prevention, (55-86), (2008). [doi.org]
Can iron overload disease be prevented? Iron overload disease is fully preventable when it is diagnosed and treated early enough. [health24.com]
Measures to prevent and treat this condition are needed. [ncbi.nlm.nih.gov]
Centers for Disease Control and Prevention Iron (National Institutes of Health, Office of Dietary Supplements) Also in Spanish [medlineplus.gov]