The patients suffering from hemochromatosis have the following clinical picture.

• The skin of these patients acquires a bronze pigmentation due to the excessive amounts of melanin and iron in the exposed parts along with the axilla, groin and genitalia.
• The patients of hemochromatosis develop liver cirrhosis due to iron accumulation in the hepatic tissue. Cirrhosis may be the initial presenting feature in some of the patients.
• The accumulation of iron in the endocrine pancreatic tissue may cause the failure of insulin production and lead to secondary insulin dependent diabetes mellitus. Cirrhosis and diabetes may or may not be accompanied by heart failure and neurologic abnormalities respectively.
• The deposition of calcium pyrophosphate in the joints of these patients causes the development of arthritis along with chondrocalcinosis.
• There may be a number of sexual disturbances in the patients suffering from hemochromatosis. These include loss of libido, atrophy of the testes and impotence.

• Pain

  The commonest joints involved are small joints of hands and feet, wrist, knees, back and neck Joint pain, joint deformity Due to iron accumulation in joint tissues these patients develop arthropathy. [medicaljoyworks.com]

  Symptoms greatly vary among patients and include fatigue, abdominal pain, arthralgias, impotence, decreased libido, diabetes, and heart failure. [ncbi.nlm.nih.gov]

  If you do, you may have joint pain, fatigue, general weakness, weight loss, and stomach pain. Your doctor will diagnose hemochromatosis based on your medical and family histories, a physical exam, and the results from tests and procedures. [medlineplus.gov]

  Some common symptoms include: fatigue a low sex drive impotence abdominal pain low energy joint pain The two forms of hemochromatosis are primary and secondary. [healthline.com]

• Fatigue

  Symptoms greatly vary among patients and include fatigue, abdominal pain, arthralgias, impotence, decreased libido, diabetes, and heart failure. [ncbi.nlm.nih.gov]

  Early symptoms may be nonspecific and often include joint pain, fatigue and weakness. [arthritis.org]

• Congestive Heart Failure

  The prognosis is poor due to progressive congestive heart failure and refractory arrhythmias. Here we report a rare case of fatal cardiac hemochromatosis associated with HS. [ncbi.nlm.nih.gov]

  heart failure Operative total joint arthroplasty indications large joint involvement Orthopaedic Manifestations Bilateral ankle arthritis hemochromatosis should be suspected when symmetrical ankle arthropathy occurs in young men Please rate topic. [orthobullets.com]

  Hemochromatosis Pathology Cause(s) Genetic Symptoms Fatigue, malaise, cirrhosis, insulin resistance, erectile dysfunction, hypogonadism, congestive heart failure, arrythmia, pericarditis, arthritis, Mortality Rate Very high if untreated Treatments Bleeding [house.wikia.com]

  This is called congestive heart failure. Hemochromatosis can also cause abnormal heart rhythms (arrhythmias). Reproductive problems. [mayoclinic.com]

• Weight Loss

  This article describes a patient who presented with abdominal pain, fatigue, poor appetite, and weight loss. [ncbi.nlm.nih.gov]

  If you do, you may have joint pain, fatigue, general weakness, weight loss, and stomach pain. Your doctor will diagnose hemochromatosis based on your medical and family histories, a physical exam, and the results from tests and procedures. [medlineplus.gov]

  Symptoms of hemochromatosis include Feeling of tiredness or weakness, Weight loss, Joint pain, Bronze or grey skin color, Abdominal pain, and Loss of sex drive. Hereditary hemochromatosis is most commonly caused by certain variants in the HFE gene. [cdc.gov]

  Other symptoms of hemochromatosis include: Lack of energy Abdominal (belly) pain Loss of sex drive Loss of body hair Heart flutters Memory fog Weight loss Weakness Abnormal coloring of the skin (gray or bronze) Cleveland Clinic is a non-profit academic [my.clevelandclinic.org]

• Family History of Arthritis

  This information often provides helpful clues, such as a family history of arthritis or unexplained liver disease. Blood tests can determine whether the amount of iron stored in the body is too high. [healthieryou.com]

  The health care provider will look for clues that may indicate hemochromatosis, such as a family history of arthritis or unexplained liver disease. Physical exam. [niddk.nih.gov]

• Splenomegaly

  Regression on SF revealed significant associations: TS; male sex; age; GGT; transfusion units (positive); and splenomegaly (negative) (p 0.0001, 0.0016, 0.0281, 0.0025, 0.0001, and 0.0096, respectively). [ncbi.nlm.nih.gov]

  An abnormally enlarged spleen (splenomegaly) may also occur. Additional symptoms occur depending on the specific organs involved. [rarediseases.org]

  In advanced cases of hemochromatosis there will likely be cardiac arrhythmias, congestive heart failure, testicular atrophy, jaundice, increased pigmentation, spider angiomas and splenomegaly. [themedicalbiochemistrypage.org]

• Abdominal Pain

  Symptoms greatly vary among patients and include fatigue, abdominal pain, arthralgias, impotence, decreased libido, diabetes, and heart failure. [ncbi.nlm.nih.gov]

  Among organ-related symptoms, hepatomegaly is seen in more than 95% of patients and can be accompanied by signs of chronic liver disease, such as abdominal pain and cutaneous stigmata of liver disease (palmar erythema, spider angioma, or jaundice), and [emedicine.com]

  Hypopituitarism can cause a wide variety of symptoms including fatigue, headaches and abdominal pain. [rarediseases.org]

  Symptoms are rare, even in advanced cases, but when they occur they include joint pain, fatigue, abdominal pain and loss of sex drive. [emoryhealthcare.org]

• Heart Failure

  Despite intensive medical treatment for heart failure and arrhythmias in combination with iron chelation therapy, he eventually died of progressive and refractory heart failure. [ncbi.nlm.nih.gov]

  This is called congestive heart failure. Hemochromatosis can also cause abnormal heart rhythms (arrhythmias). Reproductive problems. [mayoclinic.com]

• Cardiomegaly

  […] cold intolerance, edema, cardiac arrhythmias, dyspnea, hepatosplenomegaly, ascites, spider telangiectasia, hyperpigmentation, palpitations, joint pain, ROM, impotence, and amenorrhea related to hypothalamic, cardiac, hepatic and pancreatic dysfunction; cardiomegaly [medical-dictionary.thefreedictionary.com]

  On radiographs, cardiomegaly with increased pulmonary vascular markings are seen. Echocardiography reveals the features of the restrictive type of cardiomyopathy. [emedicine.medscape.com]

  She showed marked elevation of serum ferritin levels (3,210 ng/ml), cardiomegaly on chest X-p, conduction disturbance on electrocardiography, and high intensity of the left and right ventricular walls on plain chest CT indicating myocardial iron deposition [jsum.or.jp]

• Hepatomegaly

  We retrospectively studied SF and post-screening age; sex; body mass index; transferrin saturation (TS); ALT; AST; GGT; elevated C-reactive protein; ß-thalassemia; neutrophils; lymphocytes; monocytes; platelets; metacarpophalangeal joint hypertrophy; hepatomegaly [ncbi.nlm.nih.gov]

  Among organ-related symptoms, hepatomegaly is seen in more than 95% of patients and can be accompanied by signs of chronic liver disease, such as abdominal pain and cutaneous stigmata of liver disease (palmar erythema, spider angioma, or jaundice), and [emedicine.com]

  Examples of such epiphenomena are glycogen and lipid storage diseases, in which hepatomegaly is a manifestation of the underlying metabolic defect, although the liver is not necessarily the major target organ. [clevelandclinicmeded.com]

  Liver abnormalities associated with classic hereditary hemochromatosis include hepatomegaly, and scarring of the liver (cirrhosis), high blood pressure of the branches of the portal vein (portal hypertension), which is the main vein that carries blood [rarediseases.org]

• Jaundice

  Here we report the case of a 16-year-old Chinese boy, who was admitted with hepatalgia, jaundice, hyperpigmentation, and splenomegaly to our hospital. [ncbi.nlm.nih.gov]

  Among organ-related symptoms, hepatomegaly is seen in more than 95% of patients and can be accompanied by signs of chronic liver disease, such as abdominal pain and cutaneous stigmata of liver disease (palmar erythema, spider angioma, or jaundice), and [emedicine.com]

  The patient's last admission was necessitated by the development of symptoms and signs of hepatic failure (hepatic coma) characterized by jaundice Jaundice (or icterus) is a state of hyperbilirubinemia (increased bilirubin in the blood) in which bile [peir.path.uab.edu]

  Mild to moderate iron overload is seen to be common in those with chronic hepatitis C infection Abdominal pain, jaundice and liver failure (ascites or encephalopathy Due to progressive iron deposition in the liver parenchyma patient may eventually develop [medicaljoyworks.com]

• Hepatosplenomegaly

  […] dysfunction in men (45% of patients with heretditary hemochromatosis) Amenorrhea Skin hyperpigmentation (like suntan) on both exposed and nonexposed areas; slate gray in late stages (75% of patients with hereditary hemochromatosis) Other manifestations Hepatosplenomegaly [faculty.washington.edu]

  […] the HLA locus on the short arm of chromosome 6 Epidemiology The gene occurs in 10% of the white population, most are unaffected heterozygotes; 5/1000 of US whites are homozygotes Clinical Fatigue, cold intolerance, edema, cardiac arrhythmias, dyspnea, hepatosplenomegaly [medical-dictionary.thefreedictionary.com]

• Hyperpigmentation

  hyperpigmentation and actinic reticuloid. [emedicine.com]

  PubMed was used to search the following terms: hemochromatosis, hereditary, hyperpigmentation, hypopigmentation, keratosis, melanin, seborrheic, siderosis. [ncbi.nlm.nih.gov]

  Other mechanisms may affect particular organs (eg, skin hyperpigmentation can result from increased melanin as well as iron accumulation). [msdmanuals.com]

• Arthritis

  Due to the apparent difficulty in differentiating between the two diseases, a screening profile of iron in patients with rheumatoid arthritis with atypical progression is necessary. [ncbi.nlm.nih.gov]

  with signs and symptoms of osteoarthritis. 3. 4 Sometimes, it can be observed intermittent arthritis leading to misdiagnosis of rheumatoid arthritis. 5 Rheumatoid arthritis (RA) is a symmetric, progressive, autoimmune, chronic inflammatory polyarthritis [scielo.br]

  […] extraction demographics usually presents in 4th-5th decade of life women usually present later than men due to the protective effect of iron loss during menses and pregnancy location multi-system disease hypogonadism diabetes liver cirrhosis cardiomyopathy arthritis [orthobullets.com]

• Arthralgia

  Symptoms greatly vary among patients and include fatigue, abdominal pain, arthralgias, impotence, decreased libido, diabetes, and heart failure. [ncbi.nlm.nih.gov]

  However, symptomatology of hereditary hemochromatosis has changed in recent years, and its full clinical expression is seen in only a minority of patients. [9] In addition, any patient admitted to the hospital with an isolated case of asthenia or with arthralgia [emedicine.com]

  The prevalences of fatigue, arthralgia and abnormal liver test results were higher in our group (85.5 vs 36.1%; 78.3 vs 24.4% and 46.6 vs 16.8%). [nature.com]

  Symptoms include fatigue,hyperpigmentation, diabetes mellitus ("bronze diabetes"), and arthralgia. [amboss.com]

  It mostly occurs with arthralgias of the metacarpophalangeal joints of the hands [8]. [physio-pedia.com]

• Large Joint Involvement

  joint involvement Orthopaedic Manifestations Bilateral ankle arthritis hemochromatosis should be suspected when symmetrical ankle arthropathy occurs in young men Please rate topic. [orthobullets.com]

• Myalgia

  Other troubling musculoskeletal problems include severe, recurrent cramps and disabling myalgias. Muscle biopsy shows iron deposits in the myocytes, but the pathophysiologic connection to the pain and cramps is unclear. [sickle.bwh.harvard.edu]

• Muscle Cramp

  The most frequently described but overall still rare adverse reactions during therapeutic apheresis procedures include reactions to the citrate used as anticoagulant, including muscle cramps, paraesthesias, and nausea. [journals.lww.com]

• Loss of Libido

  Men: Impotence, loss of libido, gynecomastia, testicular atrophy. Women: Amenorrhea and loss of libido. Hereditary Hemochromatosis is one of the most common genetic diseases. [pathwaymedicine.org]

  These may also be related to development of cirrhosis Amenorrhea, loss of libido, impotence Hypogonadism due to pituitary iron deposition is a common endocrine abnormality associated with hemochromatosis. [medicaljoyworks.com]

  The symptoms associated with hemochromatosis are diverse and include joint pain, fatigue, abdominal pain, loss of libido (sex drive), and heart problems. However, it sometimes causes no symptoms. [diabetesselfmanagement.com]

  Symptoms ofHemochromatosisEarly Stage Late Stage Fatigue  Arthritis Joint pain  Liver disease Abdominal pain  Diabetes Loss of libido  Heart abnormalities  Skin discoloration  Organ Failure 9. [slideshare.net]

• Lethargy

  Symptomatic patients should be tested for thyroid function Tiredness, lethargy, cold intolerance, constipation etc These are symptoms suggestive of hypothyroidism. [medicaljoyworks.com]

  General symptoms comprise chronic fatigue, weakness, lethargy, and apathy. [emedicine.com]

  Early symptoms may include lethargy and weakness, irritability, depression, joint pain, yellowish skin, and loss of body hair. Regular treatment with phlebotomy or chelation therapy is needed to reduce iron levels. [massgeneral.org]

• Apathy

  General symptoms comprise chronic fatigue, weakness, lethargy, and apathy. [emedicine.com]

  Clinical Symptoms and Physical Manifestations in Patients with Hereditary Hemochromatosis Abdominal pain Amenorrhea Apathy Arthralgias Ascites Cardiomyopathy Cirrhosis Congestive heart failure Cutaneous manifestations of chronic liver disease (e.g., spider [aafp.org]

  Early symptoms include arthralgias typically at the second and third MCPs, extreme fatigue, apathy, lethargy, weight loss, loss of libido, impotence, and right upper quadrant abdominal pain. [cancertherapyadvisor.com]

• Asthenia

  However, symptomatology of hereditary hemochromatosis has changed in recent years, and its full clinical expression is seen in only a minority of patients. [9] In addition, any patient admitted to the hospital with an isolated case of asthenia or with [emedicine.com]

  However, symptomatology of hereditary hemochromatosis has changed in recent years, and its full clinical expression is seen in only a minority of patients. [8] In addition, any patient admitted to the hospital with an isolated case of asthenia or with [emedicine.medscape.com]

• Sexual Dysfunction

  If this group contained a larger percentage of men with sexual dysfunction, then we would be underestimating the number of men with genetic hemochromatosis who experience sexual dysfunction. [nature.com]

  Thus, management of hypogonadism related complications such as osteoporosis, anergia, weakness, sexual dysfunction, and infertility could be more effective in patients with hemochromatosis. [hindawi.com]

  Patients most commonly present with nonspecific symptoms such as unexplained chronic fatigue (tiredness), weakness, joint pain or stiffness, sexual dysfunction, enlarged liver, diabetes, enlarged heart or abnormal laboratory results with high liver enzymes [ihtc.org]

  When iron is deposited in the pituitary gland, it can lead to sexual dysfunction, loss of libido and impotence in men, and menstrual irregularities in women. [liver.ca]

• Amenorrhea

  Case Report A 26-year-old female patient was referred to our clinic with a 3 yr history of amenorrhea. [hindawi.com]

  These may also be related to development of cirrhosis Amenorrhea, loss of libido, impotence Hypogonadism due to pituitary iron deposition is a common endocrine abnormality associated with hemochromatosis. [medicaljoyworks.com]

  All encompassing symptoms may include: Joint pain Fatigue Abdominal pain Weakness Weight loss Loss of sex drive (libido) or impotence Lack of normal menstruation (amenorrhea) Loss of body hair Shortness of breath Arthritis Liver problems, such as cirrhosis [liversupport.com]

  As a result of hormonal deficiencies affected males may experience impotence and affected women may experience loss of menstrual periods (amenorrhea) or early menopause. [rarediseases.org]

  Women: Amenorrhea and loss of libido. Hereditary Hemochromatosis is one of the most common genetic diseases. However, clinical manifestation is highly variable and may not be severe in many patients. [pathwaymedicine.org]

• Polyuria

  The classic triad consisting of cirrhosis, diabetes mellitus, and pigmentation of skin occurs late in the disease Polyuria, polydipsia, weight loss, lethargy etc. Diabetes mellitus is the most common endocrinopathy seen in these patients. [medicaljoyworks.com]

  Asymptomatic in 75% of cases The onset of symptoms: typically between the 3rd and 5th decade of life Abdominal pain, hepatomegaly liver cirrhosis ( hepatocellular carcinoma) Fatigue, lethargy Hyperpigmented, bronze skin Signs of diabetes mellitus (polydipsia, polyuria [amboss.com]

The following investigations are helpful in establishing the diagnosis of hemochromatosis.

• Serum ferritin and iron concentration: Evaluation of the serum in the patients of hemochromatosis shows an increase in the amount of ferritin and iron concentration.
• Serum iron binding capacity: The patients of hemochromatosis have a reduced serum iron binding capacity.
• Biopsy of the liver: Upon the biopsy and histopathological examination of the hepatic tissue, heavy iron deposition along with fibrosis of the tissue is seen.
• Other tests:  Once hemochromatosis is confirmed, other tests will be required to find out whether or not the hemochromatosis is secondary to hemolytic disorders, multiple blood transfusions or dietary iron overload.

• Iron Increased

  Undiagnosed and untreated hemochromatosis (too much iron) increases the risk for diseases and conditions such as: Diabetes mellitus Irregular heart beat or heart attack Arthritis (osteoarthritis, osteoporosis) Cirrhosis of the liver or liver cancer Gall [hemochromatosis.org]

  Non-alcoholic steatohepatitis and iron: increased prevalence of mutations of the HFE gene in non-alcoholic steatohepatitis. J Hepatol. 1999 Sep. 31(3):421-9. [Medline]. O'Sullivan EP, McDermott JH, Murphy MS, Sen S, Walsh CH. [emedicine.medscape.com]

• Ferritin Increased

  She resumed treatment at the age of 62 when her serum ferritin increased to 3513 µg/l and transferrin saturation reached 95.5%, with a maintenance regimen of phlebotomy every 4 months after normalization of her iron stores. [cambridge.org]

  In 1983, haemochromatosis was suspected because of abnormal skin pigmentation at the age of 60 years and confirmed by an elevated serum ferritin, increased transferrin saturation, and increased iron stores with micronodular cirrhosis on liver biopsy. [doi.org]

  Of the C282Y homozygotes biopsied [those with increased transferrin (Tf) or ferritin], increased hepatic iron was seen in all samples. [clinchem.aaccjnls.org]

• HLA-A3

  HLA A3 as in HA3mochromatosis! [amboss.com]

  […] ancestry are homozygous for mutation; 1/11 are heterozygous; thus disease is very common Pathophysiology Due to mutation on transferrin receptor binding protein HFE (formerly called HLA-H) on 6p, close to HLA gene and in linkage disequilibrium with HLA-A3 [pathologyoutlines.com]

  : Association of HLA A3 and HLA B14 antigens with idiopathic hemochromatosis. Gut 1976, 17:332–334. PubMedCentral PubMed CrossRef Google Scholar 7. [link.springer.com]

  Maladie associée à l'antigène tissulaire HLA-A3?. [journal-of-hepatology.eu]

• Liver Biopsy

  Eleven of the 16 underwent liver biopsy. Three of the five who did not (Subjects 3, 11, and 12) did not meet the criteria for liver biopsy and had serum ferritin levels of 100 ng per milliliter or less. [doi.org]

• Hepatocellular Carcinoma

  It is very rare to see hepatocellular carcinoma in the absence of evidence of liver injury. [ncbi.nlm.nih.gov]

Although a few cases have been reported with spontaneous remission, early and aggressive medical treatment is essential for improving the outcome. Despite aggressive treatment, some patients may require liver transplantation. [ncbi.nlm.nih.gov]

Hemochromatosis Overview Information includes signs and symptoms, causes, risk factors, diagnosis, complications, treatment, and self-care. [curlie.org]

The prognosis of the patients suffering from hemochromatosis is not good [7]. Phlebotomy improves the prognosis at any stage of the disease. If hemochromatosis is detected early, phlebotomy may help prevent cirrhosis. If cirrhosis has already occurred, phlebotomy is still helpful in reducing the complications of the cirrhosis such as variceal bleeding from the esophagus. Up to 23% of the patients suffering from hepatic cirrhosis due to hemochromatosis develop hepatocellular carcinoma [8].

Depending upon the etiology, hemochromatosis can be classified as primary and secondary. Primary or idiopathic hemochromatosis is an inherited disease with an autosomal-recessive pattern. The defective gene is named HFE and is present on the short arm of chromosome 6 [2] [3]. Other mutations have been described in rare cases.

Secondary causes of iron overload are hemolytic anemias such as thalassemia in which multiple blood transfusions are required [4].

In the United States, the prevalence of hemochromatosis is 1 in 200 to 500 individuals. It is the most common autosomal-recessive inherited disease [5]. Hemochromatosis usually occurs in men above the age of 50 years.

Women are affected much less commonly as the loss of iron in menstrual bleeding prevents the accumulation of iron. Hemochromatosis is 6 times more common in whites as compared to blacks.

The normal iron content of the body is 3 to 4 grams. In hemochromatosis, there is excessive iron deposition in many organs throughout the body including the liver, pancreas, heart, adrenals, testes, pituitary and the kidneys. The iron is deposited in the form of hemosiderin. Deposition of hemosiderin causes fibrosis and functional failure of these organs which manifest as signs and symptoms of the disease [6].

In symptomatic hemochromatosis, the total iron content of the body is around 20 to 40 grams. In the pancreas and liver, the iron content may even be up to fifty to hundred times that of normal.

There is no effective preventive measure against the development of primary hemochromatosis. Secondary hemochromatosis can be prevented by prompt anticipation or diagnosis of any condition that could cause overload of iron (such as multiple blood transfusions and hemolytic anemias such thalassemia). Precautions can then be taken to reduce the likelihood of accumulation of iron.

Hemochromatosis is the condition in which there is excessive accumulation of iron in all the body tissues, particularly the liver, pancreas, heart, kidney and pituitary gland [1].

Hemochromatosis may be idiopathic or may result from secondary causes of iron overload. The patients present with deep bronze pigmentation of the skin. Liver cirrhosis and diabetes due to secondary pancreatic insufficiency are the most common features. The treatment of hemochromatosis consists of phlebotomy and chelation therapy.

Hemochromatosis is a condition in which the amount of iron in the body is increased. It accumulates in various organs of the body and interferes with their function. The patients usually have bronze discoloration of the skin along with failure of the liver and pancreas. The prognosis of the patients suffering from hemochromatosis is not very favorable.