“Health care providers can treat hemochromatosis safely and effectively by removing blood from the body on a regular basis. This is similar to donating blood. The process is known as phlebotomy.
The goal of phlebotomy is to lower your iron levels. The amount of blood removed and how often it’s removed depend on your age, your overall health and the severity of iron overload.”
MAYO CLINIC (https://www.mayoclinic.org/diseases-conditions/hemochromatosis/diagnosis-treatment/drc-20351448)
It can be tricky for your doctor to diagnose hemochromatosis, because other conditions have the same symptoms. He might want you to get tested if:
There are some other ways your doctor can figure out if you have it:
Checking your history. He’ll ask about your family and if anyone has hemochromatosis or signs of it. He might also ask about things like arthritis and liver disease, which might mean you or someone in your family has hemochromatosis but doesn’t know it.
Physical exam. Your doctor will examine your body. This involves using a stethoscope to listen to what’s going on inside. He might also tap on different parts of your body.
Blood tests. Two tests can give your doctor a clue about hemochromatosis:
If you have primary hemochromatosis, doctors treat it by removing blood from your body on a regular basis. It’s alot like donating blood. Your doctor will insert a needle into a vein in your arm or leg. The blood flows through the needle and into a tube that’s attached to a bag.
The goal is to remove some of your blood so that your iron levels return to normal. This could take up to a year or more. Blood removal is divided into two parts: initial treatment and maintenance treatment.
“Hemochromatosis is a metabolic disorder in which your organs accumulate excess iron, leading to organ damage. Hereditary hemochromatosis affects one in 300 people in the United States.”
John Hopkins Medicine (https://www.hopkinsmedicine.org/health/conditions-and-diseases/hemochromatosis)
Hemochromatosis is a disorder where too much iron builds up in your body. Sometimes it’s called “iron overload.” Hemo meaning blood and chromatosis means pigmentation specifically : deposit of pigment in a normally unpigmented area or excessive pigmentation in a normally pigmented site.
Normally, your intestines absorb just the right amount of iron from the foods you eat. But in hemochromatosis, your body absorbs too much, and it has no way to get rid of it. So, your body stores the excess iron in your joints and in organs like your liver, heart, and pancreas. This damages them. If it’s not treated, hemochromatosis can make your organs stop working.
There are two types of this condition — primary and secondary.
Primary hemochromatosis is hereditary, meaning it runs in families. If you get two of the genes that cause it, one from your mother and one from your father, you’ll have a higher risk of getting the disorder.
Secondary hemochromatosis happens because of other conditions you have. These include:
Up to half of people who have hemochromatosis don’t get any symptoms. In men, symptoms tend to show up between ages 30 and 50. Women often don’t show signs of this condition until they’re over 50 or past menopause. That may be because they lose iron when they get their periods and give birth.
Symptoms of hemochromatosis include:
Sometimes people don’t get any symptoms of hemochromatosis until other problems arise. These may include:
If you take a lot of vitamin C or eat a lot of foods that contain it, you can make hemochromatosis worse. That’s because vitamin C helps your body absorb iron from food.
“As advances in CF knowledge and care are potentially able to prolong the life expectancy of many patients, it’s important to keep in mind the complications—beyond lung disease—that will develop and progress as patients age.1,9-11 Monitoring for these complications can help detect their emergence and progression, which can ensure earlier intervention; this has been associated with better outcomes in patients.
Early as in utero and into infancy, inflammation may occur, with the possibility of mucus plugging and bronchiectasis.
Inflammation, lung structure and lung function may progress throughout childhood.
Childhood, adolescence and early adulthood what happens is lower airway inflammation and worsening airway abnormalities including established bronchiectasis may occur, driven by the inflammation in the lungs.
In Adulthood and Aging what happens is airway destruction and complications, including bacterial infections, bronchiectasis with hemoptysis, and pneumothorax, may occur and may lead to progressive respiratory failure, often requiring lung transplant.”
CF Source (Multi-Organ Disease Progression in Cystic Fibrosis (CF)
Cystic Fibrosis has advanced with medical treatments and advocacy by patient groups such as the Cystic Fibrosis Foundation (CFF).
Prior to the 1950s, children with the most common and most serious forms of cystic fibrosis rarely lived past age 5. In the 1950s and 1960s pancreatic enzymes, airway clearance techniques, and antistaphylococcal antibiotics were introduced as treatments and CF life expectancy began to increase.
In the 1960s, average life expectancy grew to age 15 as antipseudomonal antibiotics were added to the treatment arsenal. Also, the first woman known to have CF had a successful pregnancy. Between the 1970s and 1990s, life expectancy gradually increased to age 31, thanks to still more treatments, including lung transplants and DNase.
Then, between 1993 and 2017, median life expectancy leapt to age 44. This means that among those born with CF in the U.S. between 2013 and 2017, half are predicted to live to age 44 or more.
According to the CFF’s Patient Registry, children with CF grow up to lead full, productive lives despite their disease. In 2017, the registry found that:
Thanks to advances in DNA testing, doctors are identifying more and more people with CF for the first time well into their 50s, 60s, and 70s.
The oldest person diagnosed with CF for the first time in the U.S. was 82, in Ireland was 76, and in the United Kingdom was 79.
Lung transplantation is a process in which you and the family and friends who make up your social support team will need to make thoughtful decisions throughout many phases. These decisions will affect you and your social support team medically, logistically, financially, socially, and emotionally. Starting the conversation early will give you more time to plan ahead by:
Does a lung transplant cure cystic fibrosis? No. Cystic fibrosis is a genetic condition so even though the transplanted lungs will not have CF and will never develop it, the rest of the person’s body will continue to have cystic fibrosis.
People can live for 5, 10, or even 20 years after having one. About 87 percent of CF patients who receive lung transplants will live another year. Close to 50 percent of those who receive a lung transplant will survive for an extra 9 years says cysticfibrosis.com.
“Although most known for its effect on the lungs, cystic fibrosis is a far-reaching condition that affects most of the body’s systems.
Cystic fibrosis is a chronic condition that’s primarily associated with breathing difficulties, lung infections, and persistent wheezing. But people with cystic fibrosis can experience a wide range of complications and symptoms throughout their bodies.
The sticky mucus that causes classic cystic fibrosis systems can also lead to the blockage of important body ducts and tubes. As a result, enzymes, proteins, and other body substances don’t travel correctly. This can lead to complications to organs other than just the lungs!”
Healthline (How Does Cystic Fibrosis (CF) Affect the Body’s Functions)
Cystic fibrosis (CF) is a genetic disease. This means that CF is inherited.
Mutations in a gene called the CFTR (cystic fibrosis conductance transmembrane regulator) gene cause CF. The CFTR mutations causes changes in the body’s cell’s electrolyte transport system. Electrolytes are substances in blood that are critical to cell function. The main result of these transport system changes are seen in the body secretions, such as mucus and sweat.
The CFTR gene is quite large and complex. There are many different mutations in this gene that have been linked to CF.
A person will be born with CF only if 2 CF genes are inherited–one from the mother and one from the father. An individual must inherit two non-functioning CF genes – one from each parent – to have CF. If both parents are carriers there is a 1 in 4 (25 percent) chance that both will pass on the non-functioning gene, which would result in a pregnancy affected with cystic fibrosis.
A person who has only one CF gene is called a CF carrier. They are healthy and don’t have the disease. But they are a carrier of the disease. See above box in specifics how much a infant is at risk getting the disease.
CF affects various organ systems in children and young adults, including the following:
The abnormal electrolyte transport system in CF causes the cells in the respiratory system, especially the lungs, to absorb too much sodium and water. This causes the normal thin secretions in the lungs to become very thick and hard to move. These thick secretions increase the risk for frequent respiratory infections.
Recurrent respiratory infections lead to progressive damage in the lungs, and eventually death of the cells in the lungs.
Because of the high rate of infection in the lower respiratory tract, people with CF may develop a chronic cough, blood in the sputum, and often even have a collapsed lung. The cough is usually worse in the morning or after activity.
People with CF also have upper respiratory tract symptoms. Some have nasal polyps that need surgical removal. Nasal polyps are small protrusions of tissue from the lining of the nose that can block and irritate the nasal cavity. People with CF also have higher rates of sinus infections.
CF mainly affects the pancreas. The pancreas secretes substances that aid digestion and help control blood sugar levels.
The secretions from the pancreas also become thick and can clog the ducts of the pancreas. This may cause a decrease in the secretion of enzymes from the pancreas that normally help digest food. A person with CF has trouble absorbing proteins, fats, and vitamins A, D, E, and K.
The problems with the pancreas can become so severe that some of the cells in the pancreas die. Over time, this may lead to glucose intolerance and Cystic Fibrosis-Related Diabetes (CFRD), a unique type of insulin-dependent diabetes.
The symptoms of CF that may be due to involvement with the GI tract include:
The liver may also be affected. A small number of people may develop liver disease. Symptoms of liver disease include:
Most males with CF have blockage of the sperm canal. This is called congenital bilateral absence of the vas deferens (CBAVD). This results from the thick secretions clogging the vas deferens and keeping them from developing properly. It causes infertility because sperm can’t travel out of the body. There are some newer techniques that allow men with cystic fibrosis to have children. These should be discussed with your healthcare provider. Women also have an increase in thick cervical mucus that may lead to a decrease in fertility, although many women with CF are able to have children.
Cystic fibrosis (CF) is inherited, and a person with CF had both parents pass the altered gene to them. The birth of a child with CF is often a total surprise to a family, since most of the time there is no family history of CF.
All U.S. states require that newborns be tested for cystic fibrosis (CF). This means that parents can know if their baby has the disease and can take precautions and watch for early signs of problems.
The following are the most common symptoms of CF. However, people may experience symptoms differently, and the severity of symptoms can vary, too. Symptoms may include:
Many other medical problems can point to cystic fibrosis, as well. These include:
Sinusitis, Nasal polyps, Clubbing of fingers and toes. This means thickened fingertips and toes because of less oxygen in the blood, Collapse of the lung often due to intense coughing, Coughing up blood, Enlargement of the right side of the heart due to increased pressure in the lungs (Cor pulmonale), Abdominal pain, Excess gas in the intestines, Rectal prolapse. In this condition, the lower end of the bowel comes out of the anus, Liver disease, Diabetes, Pancreatitis, or inflammation of the pancreas that causes severe pain in the belly, Gallstones, Congenital bilateral absence of the vas deferens (CBAVD) in males. This causes blockages of the sperm canal.
The symptoms of CF differ for each person.
Infants born with CF usually show symptoms by age 2. Some children, though, may not show symptoms until later in life. The following signs are suspicious of CF, and infants having these signs may be further tested for CF:
Diarrhea that does not go away, Foul-smelling stools, Greasy stools, Frequent wheezing, Frequent pneumonia or other lung infections, Persistent cough, Skin that tastes like salt, Poor growth despite having a good appetite.
The symptoms of CF may resemble other conditions or medical problems. See a healthcare provider for a diagnosis.
“The Cystic Fibrosis Foundation is the world’s leader in the search for a cure for CF and supports a broad range of research initiatives to tackle the disease from all angles.
Cystic fibrosis is genetic disease that affects the lungs, pancreas, and other organs. It is progressive, meaning that it gets worse over time.
There are close to 40,000 children and adults living with cystic fibrosis in the United States and an estimated 105,000 people have been diagnosed with CF across 94 countries. CF can affect people of every racial and ethnic group.
There are many things that are misconceptions about CF.
In people with CF, mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause the CFTR protein to not function properly. When the protein is not working correctly, it’s unable to help move chloride — a part of salt — to the cell surface. Without the chloride to attract water to the cell surface, the mucus in various organs becomes thick and sticky.
CF affects multiple organs in the body.”
The Cystic Fibrosis Foundation (About Cystic Fibrosis | Cystic Fibrosis Foundation)
Cystic fibrosis (CF) is a genetic disorder that causes problems with the lungs=breathing and digestion sytem. It can obstruct the pancreas. CF affects about 35,000 people in the United States. Cystic fibrosis (CF) can be life-threatening, and people with the condition tend to have a shorter-than-normal life span. This diagnosis can have mucus that is too thick and sticky, which
Cystic fibrosis is a hereditary disease that affects the lungs and digestive system. The body produces thick and sticky mucus that can clog the lungs and obstruct the pancreas.
What is this disease?
Cystic fibrosis (CF) is a progressive, genetic disease that causes persistent lung infections and limits the ability to breathe over time.
In people with CF, mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene cause the CFTR protein to become dysfunctional. When the protein is not working correctly, it’s unable to help move chloride — a component of salt — to the cell surface. Without the chloride to attract water to the cell surface, the mucus in various organs becomes thick and sticky.
In the lungs, the mucus clogs the airways and traps germs, like bacteria, leading to infections, inflammation, respiratory failure, and other complications. For this reason, minimizing contact with germs is a top concern for people with CF.
In the pancreas, the buildup of mucus prevents the release of digestive enzymes that help the body absorb food and key nutrients, resulting in malnutrition and poor growth. In the liver, the thick mucus can block the bile duct, causing liver disease. In men, CF can affect their ability to have children.
People with CF can have a variety of symptoms, including:
Cystic fibrosis is a genetic disease. People with CF have inherited two copies of the defective CF gene — one copy from each parent. Both parents must have at least one copy of the defective gene.
People with only one copy of the defective CF gene are called carriers, but they do not have the disease. Each time two CF carriers have a child, the chances are:
The defective CF gene contains a slight abnormality called a mutation. There are more than 1,700 known mutations of the disease. Most genetic tests only screen for the most common CF mutations. Therefore, the test results may indicate a person who is a carrier of the CF gene is not a carrier.
Diagnosing cystic fibrosis is a multistep process, and should include a newborn screening, a sweat test, a genetic or carrier test, and a clinical evaluation at a CF Foundation-accredited care center. Although most people are diagnosed with CF by the age of 2, some are diagnosed as adults. A CF specialist can order a sweat test and recommend additional testing to confirm a CF diagnosis.
Stay tune for Monday’s topic Part II on CF in How it affects different parts of the system and more!
