echemi logo
Product
  • Product
  • Supplier
  • Inquiry
    Home > Medical News > Latest Medical News > Liver cirrhosis leads to 8 families with rare genetic diseases diagnosed one after another

    Liver cirrhosis leads to 8 families with rare genetic diseases diagnosed one after another

    • Last Update: 2021-09-19
    • Source: Internet
    • Author: User
    Search more information of high quality chemicals, good prices and reliable suppliers, visit www.echemi.com
    "Unexplained liver cirrhosis
    .
    " Faced with such a diagnosis report, 60-year-old Zhang was very anxious
    .
    Many major hospitals in Hebei and Beijing were unable to find out the cause of liver cirrhosis
    .
    In the end, at the Liver Disease Center of Beijing Ditan Hospital, the culprit of the disease was found out-Lao Zhang was diagnosed with a rare "hemochromatosis".
    In addition to himself, seven relatives were also diagnosed
    .
    What is hemochromatosis? How was Lao Zhang diagnosed? Why were his relatives also diagnosed?
     
    An exception indicators pull the family of rare diseases
     
    When he came to the Liver Disease Center of Ditan Hospital , Chief Physician Yang Song prescribed Lao Zhang routine hepatitis B and C screening, and the results were all negative
    .
    "Is it caused by fatty liver cirrhosis? But the patient is not fat
    .
    " Yang Song analyzed all the possibilities, and gave Lao Zhang a further imaging examination.
    "CT looks a little bright", that is, the liver.
    The density is relatively high.
    .
    .
    After a series of examinations, Yang Song found that Lao Zhang had iron deposits different from ordinary people through the examination of iron metabolism indicators.
    Combined with his dull complexion, diabetic symptoms, joint pain and other symptoms, it is speculated that he is very likely to suffer from it.
    It is an extremely rare disorder of iron metabolism disease - hemochromatosis
    .
    The subsequent genetic test results also verified Yang Song's speculation
    .
     
      The main symptom of this disease is excessive iron load in the organs.
    In order to restore the concentration of ferritin in the blood of Lao Zhang's body, doctors have developed a treatment strategy based on bloodletting therapy, which is currently reducing the body of patients with hemochromatosis.
    The main treatment for iron load
    .
    During the hospitalization, after several months of bloodletting treatment, liver protection and hypoglycemic treatment, as well as meticulous care, Lao Zhang's condition has improved significantly
    .
     
       "Your family needs to be checked
    .
    " Primary hemochromatosis is mainly due to heredity.
    Taking this factor into account, under Yang Song's special suggestion, more than 30 members of Lao Zhang's family have undergone genetic testing, and it turns out that 7 family members with hemochromatosis
    .
    Fortunately, it was discovered in time that patients who had developed the disease received timely treatment, and those who did not have the disease were able to avoid liver damage and diabetes through close monitoring and timely bloodletting
    .
     
      The first symptom of hemochromatosis is diabetes
     
      Hemochromatosis is a disorder of iron metabolism with excessive iron load.
    It is a systemic disease caused by excessive iron deposition in tissues.
    Diabetes is the first symptom
    .
    Hemochromatosis is divided into two types: primary and secondary
    .
    Primary hemochromatosis is a recessive genetic disease that is more common in men
    .
    Secondary hemochromatosis is mainly caused by severe chronic anemia after long-term massive blood transfusion (usually more than 100 blood transfusions), resulting in excessive iron storage in the body.
    There are also a few cases due to years of intake of large amounts of drug-induced iron or dietary iron (Such as alcoholism) occurs later
    .
     
      What are the symptoms of hemochromatosis? Part of the clinical manifestations of hemochromatosis is similar to diabetes, so it is easy to be misdiagnosed clinically
    .
     
      Therefore, when the typical symptoms of hemochromatosis appear, such as iron gray (dark brown or bronze) pigmentation, fatigue, lethargy, weight loss, high blood sugar, knee joint pain, etc.
    , you need to see a doctor in time
    .
     
      Although the disease cannot be cured, it can be controlled
     
      Currently, there is no effective root treatment method.
    Common treatment measures include removing excess iron from the body and supporting the damaged organs
    .
    The purpose of treatment is to reduce the iron load in the body as soon as possible, so that the iron content in the body reaches a normal or close to normal level.
    The commonly used treatment methods are as follows:
     
      Venous bloodletting Venous bloodletting is recognized by the academic circles as the most important method for the treatment of hemochromatosis
    .
    Generally, 400 to 500ml of blood can be bleeding each time, 1 to 2 times a week
    .
    Each bloodletting can remove about 200-300mg of iron, and every 1g of hemoglobin excreted is equal to 3.
    4mg of iron excretion
    .
    Approximately 100 units (200ml per unit) can be bloodletted in a year
    .
    After bloodletting, the clinical manifestations including heart function, liver function, portal hypertension, skin pigmentation, endocrine function, etc.
    can be significantly improved or even disappear
    .
    However, diabetes and low sexual function generally cannot be recovered
    .
     
      Iron chelating agents Iron chelating agents or iron deironing agents are a pharmacological treatment method to prevent or remove iron accumulation.
    There are more than 100 iron chelating agents which have been tested in vivo and in vitro.
    Among them, deferoxamine is the most commonly used in clinical practice.
    , Intravenous, intramuscular or subcutaneous injection
    .
    Oral absorption is poor, and it can also be used with venous bloodletting
    .
     
      Eat more fruits and vegetables, beans, grains, low-fat dairy products; reduce the intake of high-iron foods, fish and poultry have lower iron content than meat and seafood; drinking tea and coffee can reduce iron intake Quantity; try not to drink alcohol or drink less; avoid supplementing iron ions, iron-containing multivitamins, zinc and cough syrup; avoid supplementing with meals, and you can drink vitamin-rich juices such as orange juice between meals
    .
    It is recommended to use glass or ceramics instead of iron pots and stainless steel cookware when cooking
    .
      "Unexplained liver cirrhosis
    .
    " Faced with such a diagnosis report, 60-year-old Zhang was very anxious
    .
    Many major hospitals in Hebei and Beijing were unable to find out the cause of liver cirrhosis
    .
    In the end, at the Liver Disease Center of Beijing Ditan Hospital, the culprit of the disease was found out-Lao Zhang was diagnosed with a rare "hemochromatosis".
    In addition to himself, seven relatives were also diagnosed
    .
    What is hemochromatosis? How was Lao Zhang diagnosed? Why were his relatives also diagnosed?
     
      An exception indicators pull the family of rare diseases
     
      When he came to the Liver Disease Center of Ditan Hospital , Chief Physician Yang Song prescribed Lao Zhang routine hepatitis B and C screening, and the results were all negative
    .
    "Is it caused by fatty liver cirrhosis? But the patient is not fat
    .
    " Yang Song analyzed all the possibilities, and gave Lao Zhang a further imaging examination.
    "CT looks a little bright", that is, the liver.
    The density is relatively high.
    .
    .
    After a series of examinations, Yang Song found that Lao Zhang had iron deposits different from ordinary people through the examination of iron metabolism indicators.
    Combined with his dull complexion, diabetic symptoms, joint pain and other symptoms, it is speculated that he is very likely to suffer from it.
    It is an extremely rare disorder of iron metabolism disease - hemochromatosis
    .
    The subsequent genetic test results also verified Yang Song's speculation
    .
     
      The main symptom of this disease is excessive iron load in the organs.
    In order to restore the concentration of ferritin in the blood of Lao Zhang's body, doctors have developed a treatment strategy based on bloodletting therapy, which is currently reducing the body of patients with hemochromatosis.
    The main treatment for iron load
    .
    During the hospitalization, after several months of bloodletting treatment, liver protection and hypoglycemic treatment, as well as meticulous care, Lao Zhang's condition has improved significantly
    .
     
       "Your family needs to be checked
    .
    " Primary hemochromatosis is mainly due to heredity.
    Taking this factor into account, under Yang Song's special suggestion, more than 30 members of Lao Zhang's family have undergone genetic testing, and it turns out that 7 family members with hemochromatosis
    .
    Fortunately, it was discovered in time that patients who had developed the disease received timely treatment, and those who did not have the disease were able to avoid liver damage and diabetes through close monitoring and timely bloodletting
    .
     
      The first symptom of hemochromatosis is diabetes
     
      Hemochromatosis is a disorder of iron metabolism with excessive iron load.
    It is a systemic disease caused by excessive iron deposition in tissues.
    Diabetes is the first symptom
    .
    Hemochromatosis is divided into two types: primary and secondary
    .
    Primary hemochromatosis is a recessive genetic disease that is more common in men
    .
    Secondary hemochromatosis is mainly caused by severe chronic anemia after long-term massive blood transfusion (usually more than 100 blood transfusions), resulting in excessive iron storage in the body.
    There are also a few cases due to years of intake of large amounts of drug-induced iron or dietary iron (Such as alcoholism) occurs later
    .
     
      What are the symptoms of hemochromatosis? Part of the clinical manifestations of hemochromatosis is similar to diabetes, so it is easy to be misdiagnosed clinically
    .
     
      Therefore, when the typical symptoms of hemochromatosis appear, such as iron gray (dark brown or bronze) pigmentation, fatigue, lethargy, weight loss, high blood sugar, knee joint pain, etc.
    , you need to see a doctor in time
    .
     
      Although the disease cannot be cured, it can be controlled
     
      Currently, there is no effective root treatment method.
    Common treatment measures include removing excess iron from the body and supporting the damaged organs
    .
    The purpose of treatment is to reduce the iron load in the body as soon as possible, so that the iron content in the body reaches a normal or close to normal level.
    The commonly used treatment methods are as follows:
     
      Venous bloodletting Venous bloodletting is recognized by the academic circles as the most important method for the treatment of hemochromatosis
    .
    Generally, 400 to 500ml of blood can be bleeding each time, 1 to 2 times a week
    .
    Each bloodletting can remove about 200-300mg of iron, and every 1g of hemoglobin excreted is equal to 3.
    4mg of iron excretion
    .
    Approximately 100 units (200ml per unit) can be bloodletted in a year
    .
    After bloodletting, the clinical manifestations including heart function, liver function, portal hypertension, skin pigmentation, endocrine function, etc.
    can be significantly improved or even disappear
    .
    However, diabetes and low sexual function generally cannot be recovered
    .
     
      Iron chelating agents Iron chelating agents or iron deironing agents are a pharmacological treatment method to prevent or remove iron accumulation.
    There are more than 100 iron chelating agents which have been tested in vivo and in vitro.
    Among them, deferoxamine is the most commonly used in clinical practice.
    , Intravenous, intramuscular or subcutaneous injection
    .
    Oral absorption is poor, and it can also be used with venous bloodletting
    .
     
      Eat more fruits and vegetables, beans, grains, low-fat dairy products; reduce the intake of high-iron foods, fish and poultry have lower iron content than meat and seafood; drinking tea and coffee can reduce iron intake Quantity; try not to drink alcohol or drink less; avoid supplementing iron ions, iron-containing multivitamins, zinc and cough syrup; avoid supplementing with meals, and you can drink vitamin-rich juices such as orange juice between meals
    .
    It is recommended to use glass or ceramics instead of iron pots and stainless steel cookware when cooking
    .
      "Unexplained liver cirrhosis
    .
    " Faced with such a diagnosis report, 60-year-old Zhang was very anxious
    .
    Many major hospitals in Hebei and Beijing were unable to find out the cause of liver cirrhosis
    .
    In the end, at the Liver Disease Center of Beijing Ditan Hospital, the culprit of the disease was found out-Lao Zhang was diagnosed with a rare "hemochromatosis".
    In addition to himself, seven relatives were also diagnosed
    .
    What is hemochromatosis? How was Lao Zhang diagnosed? Why were his relatives also diagnosed?
     
      An exception indicators pull the family of rare diseases
      An exception indicators pull the family of rare diseases
     
      When he came to the Liver Disease Center of Ditan Hospital , Chief Physician Yang Song prescribed Lao Zhang routine hepatitis B and C screening, and the results were all negative
    .
    "Is it caused by fatty liver cirrhosis? But the patient is not fat
    .
    " Yang Song analyzed all the possibilities, and gave Lao Zhang a further imaging examination.
    "CT looks a little bright", that is, the liver.
    The density is relatively high.
    .
    .
    After a series of examinations, Yang Song found that Lao Zhang had iron deposits different from ordinary people through the examination of iron metabolism indicators.
    Combined with his dull complexion, diabetic symptoms, joint pain and other symptoms, it is speculated that he is very likely to suffer from it.
    It is an extremely rare disorder of iron metabolism disease - hemochromatosis
    .
    The subsequent genetic test results also verified Yang Song's speculation
    .
    Hospital Hospital disease disease
     
      The main symptom of this disease is excessive iron load in the organs.
    In order to restore the concentration of ferritin in the blood of Lao Zhang's body, doctors have developed a treatment strategy based on bloodletting therapy, which is currently reducing the body of patients with hemochromatosis.
    The main treatment for iron load
    .
    During the hospitalization, after several months of bloodletting treatment, liver protection and hypoglycemic treatment, as well as meticulous care, Lao Zhang's condition has improved significantly
    .
     
       "Your family needs to be checked
    .
    " Primary hemochromatosis is mainly due to heredity.
    Taking this factor into account, under Yang Song's special suggestion, more than 30 members of Lao Zhang's family have undergone genetic testing, and it turns out that 7 family members with hemochromatosis
    .
    Fortunately, it was discovered in time that patients who had developed the disease received timely treatment, and those who did not have the disease were able to avoid liver damage and diabetes through close monitoring and timely bloodletting
    .
     
      The first symptom of hemochromatosis is diabetes
      The first symptom of hemochromatosis is diabetes
     
      Hemochromatosis is a disorder of iron metabolism with excessive iron load.
    It is a systemic disease caused by excessive iron deposition in tissues.
    Diabetes is the first symptom
    .
    Hemochromatosis is divided into two types: primary and secondary
    .
    Primary hemochromatosis is a recessive genetic disease that is more common in men
    .
    Secondary hemochromatosis is mainly caused by severe chronic anemia after long-term massive blood transfusion (usually more than 100 blood transfusions), resulting in excessive iron storage in the body.
    There are also a few cases due to years of intake of large amounts of drug-induced iron or dietary iron (Such as alcoholism) occurs later
    .
    Male Male Diet Diet
     
      What are the symptoms of hemochromatosis? Part of the clinical manifestations of hemochromatosis is similar to diabetes, so it is easy to be misdiagnosed clinically
    .
     
      Therefore, when the typical symptoms of hemochromatosis appear, such as iron gray (dark brown or bronze) pigmentation, fatigue, lethargy, weight loss, high blood sugar, knee joint pain, etc.
    , you need to see a doctor in time
    .
     
      Although the disease cannot be cured, it can be controlled
      Although the disease cannot be cured, it can be controlled
     
      Currently, there is no effective root treatment method.
    Common treatment measures include removing excess iron from the body and supporting the damaged organs
    .
    The purpose of treatment is to reduce the iron load in the body as soon as possible, so that the iron content in the body reaches a normal or close to normal level.
    The commonly used treatment methods are as follows:
     
      Venous bloodletting Venous bloodletting is recognized by the academic circles as the most important method for the treatment of hemochromatosis
    .
    Generally, 400 to 500ml of blood can be bleeding each time, 1 to 2 times a week
    .
    Each bloodletting can remove about 200-300mg of iron, and every 1g of hemoglobin excreted is equal to 3.
    4mg of iron excretion
    .
    Approximately 100 units (200ml per unit) can be bloodletted in a year
    .
    After bloodletting, the clinical manifestations including heart function, liver function, portal hypertension, skin pigmentation, endocrine function, etc.
    can be significantly improved or even disappear
    .
    However, diabetes and low sexual function generally cannot be recovered
    .
    Heart heart
     
      Iron chelating agents Iron chelating agents or iron deironing agents are a pharmacological treatment method to prevent or remove iron accumulation.
    There are more than 100 iron chelating agents which have been tested in vivo and in vitro.
    Among them, deferoxamine is the most commonly used in clinical practice.
    , Intravenous, intramuscular or subcutaneous injection
    .
    Oral absorption is poor, and it can also be used with venous bloodletting
    .
     
      Eat more fruits and vegetables, beans, grains, low-fat dairy products; reduce the intake of high-iron foods, fish and poultry have lower iron content than meat and seafood; drinking tea and coffee can reduce iron intake Quantity; try not to drink alcohol or drink less; avoid supplementing iron ions, iron-containing multivitamins, zinc and cough syrup; avoid supplementing with meals, and you can drink vitamin-rich juices such as orange juice between meals
    .
    It is recommended to use glass or ceramics instead of iron pots and stainless steel cookware when cooking
    .
    This article is an English version of an article which is originally in the Chinese language on echemi.com and is provided for information purposes only. This website makes no representation or warranty of any kind, either expressed or implied, as to the accuracy, completeness ownership or reliability of the article or any translations thereof. If you have any concerns or complaints relating to the article, please send an email, providing a detailed description of the concern or complaint, to service@echemi.com. A staff member will contact you within 5 working days. Once verified, infringing content will be removed immediately.

    Contact Us

    The source of this page with content of products and services is from Internet, which doesn't represent ECHEMI's opinion. If you have any queries, please write to service@echemi.com. It will be replied within 5 days.

    Moreover, if you find any instances of plagiarism from the page, please send email to service@echemi.com with relevant evidence.