hemochromatosis

Hemochromatosis is a disease in which too much iron builds up in your body. Your body needs iron but too much of it is toxic. If you have hemochromatosis, you absorb more iron than you need. Your body has no natural way to get rid of the extra iron. It stores it in body tissues, especially the liver, heart, and pancreas. The extra iron can damage your organs. Without treatment, it can cause your organs to fail.

There are two types of hemochromatosis. Primary hemochromatosis is an inherited disease. Secondary hemochromatosis is usually the result of something else, such as anemia, thalassemia, liver disease, or blood transfusions.

Many symptoms of hemochromatosis are similar to those of other diseases. Not everyone has symptoms. 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. Treatments include removing blood (and iron) from your body, medicines, and changes in your diet.

NIH: National Heart, Lung, and Blood Institute

Iron is a mineral that our bodies need for growth and development. Your body uses iron to make hemoglobin, a protein in red blood cells. Hemoglobin carries oxygen from the lungs to all parts of the body. Iron is also important for healthy muscles, bone marrow, and organ function. Your body also needs iron to make some hormones.

Iron is found naturally in many foods and is added to some fortified food products. Foods that are high in iron include:

• Lean meat, seafood, and poultry
• Iron-fortified breakfast cereals and breads
• White beans, lentils, spinach, kidney beans, and peas
• Nuts and some dried fruits, such as raisins

Iron is available in supplements, either on its own or as part of many multivitamin/mineral supplements.

Most people in the United States get enough iron. The amount that you need each day depends on your age, your sex, and whether you consume a mostly plant-based diet.

Sometimes people can have trouble getting enough iron. There can be many causes, including blood loss, a poor diet, or a problem absorbing enough iron from foods. Those who are more likely to have low iron include people who:

• Have heavy periods
• Are pregnant or breastfeeding
• Are infants (especially if they were born premature or low birth weight)
• Are frequent blood donors
• Have cancer, certain digestive diseases, or heart failure
• Are on kidney dialysis
• Have trouble absorbing iron because they:
  • Have a digestive condition such as celiac disease, ulcerative colitis, Crohn's disease, or Helicobacter pylori infection
  • Had weight loss surgery

If you have too little iron, you may develop iron-deficiency anemia. It may not cause symptoms at first, but over time, it can cause fatigue, shortness of breath, and trouble with memory and concentration. Treatment for low iron and iron-deficiency anemia is usually with iron supplements.

Too much iron can damage your body. For example, if you are healthy and take too many iron supplements, you may have symptoms such as constipation, nausea and vomiting, abdominal (belly) pain, and diarrhea. Higher iron levels can cause ulcers. Extremely high levels can lead to organ damage, coma, and death.

A disease called hemochromatosis can cause too much iron to build up in the body. Hemochromatosis is inherited (passed down through families). It is usually treated by removing blood (and iron) from your body on a regular basis.

National Institutes of Health, Office of Dietary Supplements

Your liver is the largest organ inside your body. It helps your body digest food, store energy, and remove poisons. Primary liver cancer starts in the liver. Metastatic liver cancer starts somewhere else and spreads to your liver.

Risk factors for primary liver cancer include :

• Having hepatitis B or C
• Heavy alcohol use
• Having cirrhosis, or scarring of the liver
• Having hemochromatosis, an iron storage disease
• Obesity and diabetes

Symptoms can include a lump or pain on the right side of your abdomen and yellowing of the skin. However, you may not have symptoms until the cancer is advanced. This makes it harder to treat. Doctors use tests that examine the liver and the blood to diagnose liver cancer. Treatment options include surgery, radiation, chemotherapy, or liver transplantation.

NIH: National Cancer Institute

Your liver is the largest organ inside your body. It helps your body digest food, store energy, and remove poisons.

There are many kinds of liver diseases:

• Diseases caused by viruses, such as hepatitis A, hepatitis B, and hepatitis C
• Diseases caused by drugs, poisons, or too much alcohol. Examples include fatty liver disease and cirrhosis.
• Liver cancer
• Inherited diseases, such as hemochromatosis and Wilson disease

Symptoms of liver disease can vary, but they often include swelling of the abdomen and legs, bruising easily, changes in the color of your stool and urine, and jaundice, or yellowing of the skin and eyes. Sometimes there are no symptoms. Tests such as imaging tests and liver function tests can check for liver damage and help to diagnose liver diseases.

Your blood is living tissue made up of liquid and solids. The liquid part, called plasma, is made of water, salts and protein. Over half of your blood is plasma. The solid part of your blood contains red blood cells, white blood cells and platelets.

Blood disorders affect one or more parts of the blood and prevent your blood from doing its job. They can be acute or chronic. Many blood disorders are inherited. Other causes include other diseases, side effects of medicines, and a lack of certain nutrients in your diet.

Types of blood disorders include:

• Platelet disorders, excessive clotting, and bleeding problems, which affect how your blood clots
• Anemia, which happens when your blood does not carry enough oxygen to the rest of your body
• Cancers of the blood, such as leukemia and myeloma
• Eosinophilic disorders, which are problems with one type of white blood cell.

Genes are the building blocks of heredity. They are passed from parent to child. They hold DNA, the instructions for making proteins. Proteins do most of the work in cells. They move molecules from one place to another, build structures, break down toxins, and do many other maintenance jobs.

Sometimes there is a mutation, a change in a gene or genes. The mutation changes the gene's instructions for making a protein, so the protein does not work properly or is missing entirely. This can cause a medical condition called a genetic disorder.

You can inherit a gene mutation from one or both parents. A mutation can also happen during your lifetime.

There are three types of genetic disorders:

• Single-gene disorders, where a mutation affects one gene. Sickle cell anemia is an example.
• Chromosomal disorders, where chromosomes (or parts of chromosomes) are missing or changed. Chromosomes are the structures that hold our genes. Down syndrome is a chromosomal disorder.
• Complex disorders, where there are mutations in two or more genes. Often your lifestyle and environment also play a role. Colon cancer is an example.

Genetic tests on blood and other tissue can identify genetic disorders.

NIH: National Library of Medicine

Heart failure means that your heart can't pump enough oxygen-rich blood to meet your body's needs. Heart failure doesn't mean that your heart has stopped or is about to stop beating. But without enough blood flow, your organs may not work well, which can cause serious problems.

Heart failure can affect one or both sides of your heart:

• With right-sided heart failure, your heart is too weak to pump enough blood to your lungs to get oxygen.
• With left-sided heart failure, your heart can't pump enough oxygen-rich blood out to your body. This happens when the left side of your heart becomes either:
  • Too weak to pump enough blood.
  • Too thick or stiff to relax and fill with enough blood.

Left-sided heart failure is more common than right-sided heart failure.

Heart failure can start suddenly after a medical condition or injury damages your heart muscle. But in most cases, heart failure develops slowly from long-term medical conditions.

Conditions that can cause heart failure include:

• Arrhythmia (a problem with the rate or rhythm of your heartbeat)
• Cardiomyopathy
• Congenital heart defects or other types of heart diseases that you are born with
• Coronary artery disease
• Endocarditis
• Heart attack
• Heart valve diseases
• High blood pressure
• A blood clot in your lung
• Diabetes
• Certain severe lung diseases, such as COPD (chronic obstructive pulmonary disease)
• Obesity

Over time, left-sided heart failure can lead to right-sided heart failure.

Heart failure can happen at any age. It happens to both men and women, but men often develop it at a younger age than women. Your chance of developing heart failure increases if:

• You're 65 years old or older. Aging can weaken and stiffen your heart muscle.
• Your family health history includes relatives who have or have had heart failure.
• You have changes in your genes that affect your heart tissue.
• You have habits that can harm your heart, including:
  • Smoking
  • Eating foods high in fat, cholesterol, and sodium (salt)
  • Having an inactive lifestyle
  • Alcohol use disorder (AUD)
  • Illegal drug use
• You have other medical conditions that can affect your heart, including:
  • Any heart or blood vessel conditions, including high blood pressure
  • Serious lung diseases
  • Infection, such as HIV or COVID-19
  • Obesity
  • Diabetes
  • Sleep apnea
  • Chronic kidney disease
  • Anemia
  • Iron overload disease
  • Cancer treatments that can harm your heart, such as radiation and chemotherapy
• You are African American. African Americans are more likely to develop heart failure and have more serious cases at younger ages than people of other races. Factors such as stigma, discrimination, income, education, and geographic region can also affect their risk of heart failure.

The symptoms of heart failure depend on which side of your heart is affected and how serious your condition has become. Most symptoms are caused by reduced blood flow to your organs and fluid buildup in your body.

Fluid buildup happens because the flow of blood through your heart is too slow. As a result, blood backs up in the vessels that return the blood to your heart. Fluid may leak from the blood vessels and collect in the tissues of your body, causing swelling (edema) and other problems.

Symptoms of heart failure may include:

• Feeling short of breath (like you can't get enough air) when you do things like climbing stairs. This may be one of the first symptoms you notice.
• Fatigue or weakness even after rest.
• Coughing.
• Swelling and weight gain from fluid in your ankles, lower legs, or abdomen (belly).
• Difficulty sleeping when lying flat.
• Nausea and loss of appetite.
• Swelling in the veins of your neck.
• Needing to urinate (pee) often.

At first you may have no symptoms or mild symptoms. As the disease gets worse, your symptoms will usually bother you more.

Fluid buildup and reduced blood flow to your organs can lead to serious problems, including:

• Breathing problems from fluid in and around your lungs (also called congestive heart failure)
• Kidney or liver damage including cirrhosis
• Malnutrition if fluid buildup makes eating uncomfortable or if your stomach doesn't get enough blood flow to digest food properly
• Other heart conditions, such as irregular heartbeat and sudden cardiac arrest
• Pulmonary hypertension

To find out if you have heart failure, your doctor will:

• Ask about your medical history, including your symptoms
• Ask about your family health history, including relatives who have had heart failure
• Do a physical exam
• Will likely order heart tests and blood tests, including a brain natriuretic peptide (BNP) test

In some cases, your doctor may refer you to a cardiologist (a doctor who specializes in heart diseases) for tests, diagnosis, and care.

Your treatment will depend on the type of heart failure you have and how serious it is. There's no cure for heart failure. But treatment can help you live longer with fewer symptoms.

Even with treatment, heart failure usually gets worse over time, so you'll likely need treatment for the rest of your life.

Most treatment plans include:

• Taking medicine
• Eating less sodium and drinking less liquid to control fluid buildup
• Making other changes, such as quitting smoking, managing stress, and getting as much physical activity as your health care provider recommends
• Treating any conditions that may make heart failure worse

You may need heart surgery if:

• You have a congenital heart defect or damage to your heart that can be fixed.
• The left side of your heart is getting weaker and putting a device in your chest could help. Devices include:
  • An implantable cardioverter defibrillator.
  • A biventricular pacemaker (cardiac resynchronization therapy).
  • A mechanical heart pump (a ventricular assist device (VAD) or a total artificial heart).
• Your heart doctor recommends a heart transplant because your heart failure is life-threatening and nothing else is helping.

As part of your treatment, you'll need to pay close attention to your symptoms, because heart failure can worsen suddenly. Your provider may suggest a cardiac rehabilitation program to help you learn how to manage your condition.

You may be able to prevent or delay heart failure if you:

• Work with your provider to manage any health conditions that increase your risk of developing heart failure
• Make healthy changes in your eating, exercise, and other daily habits to help prevent heart disease

NIH: National Heart, Lung, and Blood Institute

Metabolism is the process your body uses to get or make energy from the food you eat. Food is made up of proteins, carbohydrates, and fats. Chemicals in your digestive system break the food parts down into sugars and acids, your body's fuel. Your body can use this fuel right away, or it can store the energy in your body tissues, such as your liver, muscles, and body fat.

A metabolic disorder occurs when abnormal chemical reactions in your body disrupt this process. When this happens, you might have too much of some substances or too little of other ones that you need to stay healthy. There are different groups of disorders. Some affect the breakdown of amino acids, carbohydrates, or lipids. Another group, mitochondrial diseases, affects the parts of the cells that produce the energy.

You can develop a metabolic disorder when some organs, such as your liver or pancreas, become diseased or do not function normally. Diabetes is an example.