icterus

Jaundice causes your skin and the whites of your eyes to turn yellow. Too much bilirubin causes jaundice. Bilirubin is a yellow chemical in hemoglobin, the substance that carries oxygen in your red blood cells. As red blood cells break down, your body builds new cells to replace them. The old ones are processed by the liver. If the liver cannot handle the blood cells as they break down, bilirubin builds up in the body and your skin may look yellow.

Many healthy babies have some jaundice during the first week of life. It usually goes away. However, jaundice can happen at any age and may be a sign of a problem. Jaundice can happen for many reasons, such as:

• Blood diseases
• Genetic syndromes
• Liver diseases, such as hepatitis or cirrhosis
• Blockage of bile ducts
• Infections
• Medicines

It is hard when your baby is sick. Common health problems in babies include colds, coughs, fevers, and vomiting. Babies also commonly have skin problems, like diaper rash or cradle cap.

Many of these problems are not serious. It is important to know how to help your sick baby, and to know the warning signs for more serious problems. Trust your intuition - if you are worried about your baby, call your health care provider right away.

Alpha-1 antitrypsin deficiency (AAT deficiency, or AATD) is an inherited condition that raises your risk for lung and liver disease. If you have this condition, your body doesn't make enough alpha-1 antitrypsin (AAT).

AAT is made by your liver. It helps protect your lungs from inflammation and irritating substances you might breathe in, such as smoke. If your liver doesn't make enough AAT, your lungs may be more easily damaged from smoking, pollution, or dust from the environment. This can lead to a serious lung condition called chronic obstructive pulmonary disease (COPD). AAT deficiency may also cause a liver disease called cirrhosis. This is more common in children who have AAT deficiency.

AAT deficiency is a genetic disorder. That means it's caused by changes in your genes, which may also be called gene variants or mutations.

Your genes carry information that controls what you look like and how your body works. AAT deficiency is caused by changes in the SERPINA1 gene, which carries instructions for making the AAT protein. These gene changes are inherited from your parents, so AAT deficiency tends to run in families:

• If you have two mutated copies of the gene, it means you have a condition called AAT deficiency. People with this disorder have a higher risk of getting lung disease or liver damage before the age of 45.
• If you have one mutated copy of the gene, you are a carrier of AAT deficiency. In these cases, this means you are at slightly higher risk of developing lung disease, especially if you have other risk factors, such as being a smoker. You could still pass the mutated gene on to your children.

There are a few gene changes that cause AAT deficiency. These gene changes can:

• Decrease the amount of AAT protein your liver makes.
• Prevent your liver from making any AAT.
• Affect the shape of the AAT protein so that it can't move out of your liver to protect your lungs. Over time, AAT builds up in your liver and causes damage.

Some people who have AAT deficiency do not have any symptoms. For those who do, symptoms usually appear in people between 20 and 50 years old. These symptoms may include:

• Wheezing
• Shortness of breath, especially after exercise
• Chronic cough with phlegm (mucus)
• Repeated respiratory infections such as colds and the flu
• Chest pain
• Fatigue
• Faster-than-normal heartbeat when you stand up
• Vision problems
• Losing weight without trying

Some people who have AAT deficiency may have liver damage. Signs of liver damage include jaundice (a condition that causes your skin and eyes to turn yellow) and swelling in your legs.

Rarely, AAT deficiency can cause skin problems, such as painful lumps or patches.

Your health care provider may test you for AAT deficiency if you have:

• Symptoms of AAT deficiency
• A condition that could be related to AAT deficiency
• Relatives who have AAT deficiency
• Relatives who have a lung or liver disease that could be related to AAT deficiency

AAT deficiency in babies often affects the liver. Your baby may need AAT testing if he or she has signs of liver disease such as jaundice or abnormal liver enzyme tests.

A blood test can check the level of AAT protein in your blood. If the level is lower than normal, it is likely that you have AAT deficiency.

A genetic test is the most certain way to check for AAT deficiency and should be done to confirm the results of the blood test. There are two types of genetic tests:

• A genotype test looks for the more common types of gene changes that can cause AAT deficiency.
• A phenotype test checks for changes in the AAT protein that change how it would normally work.

If your lungs are affected, you may also have lung function tests to see how well your lungs are working.

There is no cure for AAT deficiency, but there are treatments to help with the symptoms and slow the lung damage it causes. Treatment options may include:

• Inhaled medicines to help you breathe better.
• Pulmonary rehabilitation.
• Oxygen therapy.
• Augmentation therapy, which is a lifelong treatment. It raises the levels of the AAT protein in your lungs, using ATT protein taken from the blood of donors. It helps slow down lung damage. It cannot prevent liver damage.
• Lung surgery or a lung transplant, if your lungs are severely damaged.
• Liver transplant, if your liver is severely damaged.

To help prevent or delay lung damage, it is important to quit smoking (if you smoke) and avoid secondhand smoke, dust, and air pollution. Ask your provider If you need to stop drinking alcohol.

Birth weight is the first weight of your baby, taken just after being born. A low birth weight means that the baby is less than 5 pounds, 8 ounces. A high birth weight means that the baby is more than 8 pounds, 13 ounces.

A baby with a low birth weight can be born too small, too early (premature), or both. This can happen for many different reasons. They include:

• Health problems in the pregnant parent
• Taking certain medicines during pregnancy
• Substance use during pregnancy
• Infections during pregnancy
• Being pregnant with multiple babies
• Problems with the placenta, the organ that brings oxygen and nutrients to the baby
• Having small parents
• Genetic conditions in the baby
• Birth defects

Babies with low birth weight may be more at risk of certain health problems. They include immediate problems, such as:

• Breathing problems
• Infections
• Hypoglycemia (low blood sugar)
• Jaundice
• Trouble keeping warm

There is also a higher risk of longer-term problems, including:

• Delayed motor and social development
• Learning disabilities
• Certain health conditions as an adult, such as heart disease, high blood pressure, diabetes, and obesity

Causes of high birth weight can include:

• Having big parents
• Diabetes in the pregnant parent
• Certain genetic conditions
• Too much weight gain during pregnancy

High birth weight can be a concern because it can make delivery of the baby difficult and raise the risk of birth injuries. The baby is at higher risk of problems with:

• Blood sugar
• Breathing problems
• Jaundice

You may be able to prevent some birth weight problems by:

• Getting regular checkups during pregnancy
• Getting the right amount of nutrition and calories during pregnancy
• Controlling your blood sugar if you have diabetes
• Avoiding substance use during pregnancy

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.

Sickle cell disease (SCD) is a group of inherited red blood cell disorders. If you have SCD, there is a problem with your hemoglobin. Hemoglobin is a protein in red blood cells that carries oxygen throughout the body. With SCD, the hemoglobin forms into stiff rods within the red blood cells. This changes the shape of the red blood cells. The cells are supposed to be disc-shaped, but instead they are crescent, or sickle, shaped.

The sickle-shaped cells are not flexible and cannot change shape easily. Many of them burst apart as they move through your blood vessels. The sickle cells usually only last 10 to 20 days, instead of the normal 90 to 120 days. Your body may have trouble making enough new cells to replace the ones that you lost. Because of this, you may not have enough red blood cells. This is a condition called anemia, and it can make you feel tired.

The sickle-shaped cells can also stick to vessel walls, causing a blockage that slows or stops the flow of blood. When this happens, oxygen can't reach nearby tissues. The lack of oxygen can cause attacks of sudden, severe pain, called pain crises. These attacks can occur without warning. If you get one, you might need to go to the hospital for treatment.

SCD is caused by a variant (change) in a gene that has instructions for your body to make one part of the hemoglobin. This changed gene is sometimes called a sickle cell gene. People with SCD are born with two sickle cell genes, one from each parent.

If you are born with one sickle cell gene, it's called sickle cell trait. People with sickle cell trait are generally healthy, but they can pass the defective gene on to their children.

In the United States, most of the people with SCD are African Americans:

• About 1 in 13 Black or African American babies are born with sickle cell trait
• About 1 in every 365 Black or African American babies are born with sickle cell disease

SCD also affects some people who come from Hispanic, southern European, Middle Eastern, or Asian Indian backgrounds.

People with SCD start to have signs of the disease during the first year of life, usually around 5 or 6 months of age. Early symptoms of SCD may include:

• Painful swelling of the hands and feet
• Fatigue or fussiness from anemia
• A yellowish color of the skin (jaundice) or the whites of the eyes (icterus)

The effects of SCD vary from person to person and can change over time. Most of the signs and symptoms of SCD are related to complications of the disease. They may include severe pain, anemia, organ damage, and infections.

A blood test can show if you have SCD or sickle cell trait. Genetic tests can tell if you have one or two copies of the sickle cell gene. Genetic tests can help confirm an SCD diagnosis if the results from blood tests are not clear.

All states now test newborns for SCD (as well as many other treatable conditions) as part of their screening programs. These programs help find the conditions early, so treatment can be started right away.

Health care providers can also diagnose SCD before a baby is born. That test uses a sample of amniotic fluid (the liquid in the sac surrounding the baby) or tissue taken from the placenta (the organ that brings oxygen and nutrients to the baby).

People who are thinking about having children can have the test to find out how likely it is that their children will have SCD.

There are many ways to manage sickle cell disease. Your medical team will probably include a hematologist, a doctor who specializes in blood diseases. You will work with your medical team to set up a treatment plan. Possible treatment options may include:

• Treatments that can help relieve symptoms and lessen complications, including:
  • Hydroxyurea, a medicine to reduce sickling of red blood cells. This can help prevent serious symptoms of sickle cell disease. This medicine can be used in adults and in children as young as 9 months old. But this medicine is not safe during pregnancy.
  • Voxelotor, another medicine to prevent the sickling of red blood cells. It can be used in adults and children ages 4 years and older.
  • Pain relievers for acute or chronic pain.
  • Antibiotics to try to prevent infections in younger children.
  • Blood transfusions for severe anemia. If you have had some serious complications, such as a stroke, you may have transfusions to prevent more complications.
  • Other treatments for specific complications, such as medicines to lower blood pressure and vitamins to treat a vitamin deficiency.
• Bone marrow or stem cell transplantation, which can cure SCD. Because these transplants are risky and can have serious side effects, they are usually only used in children with severe SCD. For the transplant to work, the bone marrow must be a close match. Usually, the best donor is a brother or sister.
• Gene therapies to treat SCD in people who are 12 years and older and have had repeated sickle cell crises. These new therapies involve taking some of your blood stem cells and either adding new DNA to them or changing their existing DNA. Then these cells are given back to you, and they can make a type of hemoglobin that is healthy. This can reduce the complications of SCD, including the SCD crises.

Complementary and alternative medicine (CAM) seems to help some people deal with pain caused by SCD. These types of CAM may lower your pain, especially if it is not well managed with medicines::

• Cognitive behavioral therapy (a type of counseling)
• Acupuncture
• Exercise or movement programs, such as yoga
• Massage
• Meditation and mindfulness practices
• Virtual reality, a computer-generated 3D environment you can see with special goggles

It's also important to take steps to keep yourself as healthy as possible:

• Get regular medical care
• Get your routine vaccinations
• Live a healthy lifestyle
• Avoid situations that may set off a pain crisis

NIH: National Heart, Lung, and Blood Institute

Your liver makes a digestive juice called bile. Your gallbladder stores it between meals. When you eat, your gallbladder pushes the bile into tubes called bile ducts. They carry the bile to your small intestine. The bile helps break down fat. It also helps the liver get rid of toxins and wastes.

Bile duct cancer is rare. It can happen in the parts of the bile ducts that are outside or inside the liver. Cancer of the bile duct outside of the liver is much more common. Risk factors include having inflammation of the bile duct, ulcerative colitis, and some liver diseases.

Symptoms can include:

• Jaundice
• Itchy skin
• Fever
• Abdominal pain

Tests to diagnose bile duct cancer may include a physical exam, imaging tests of the liver and bile ducts, blood tests, and a biopsy.

Treatments include surgery, radiation therapy, and chemotherapy.

NIH: National Cancer Institute

Cerebral palsy (CP) is a group of neurologic disorders that cause problems with movement, balance, and posture. The first part of the name, cerebral, means having to do with the brain. The second part, palsy, means weakness or problems with using the muscles.

CP can range from mild to severe. The brain damage and the disabilities it causes are permanent. But treatments can improve the lives of people who have the condition. For example, treatments can help to improve their motor skills and ability to communicate.

There are different types of CP:

• Spastic cerebral palsy, which is the most common type. It causes increased muscle tone, stiff muscles, and awkward movements. Sometimes it only affects one part of the body. In other cases, it can affect both arms and legs, the trunk, and the face.
• Dyskinetic cerebral palsy, which causes problems controlling the movement of the hands, arms, feet, and legs. This can make it hard to sit and walk.
• Ataxic cerebral palsy, which causes problems with balance and coordination.
• Mixed cerebral palsy, which means that you have symptoms of more than one type.

CP is caused by abnormal development or damage to the developing brain. When this development or damage happens before birth, it is called congenital CP. Most CP is congenital, and its causes may include:

• Gene changes (variants)
• Brain malformations
• Infections or fevers in the pregnant parent
• An injury to the developing baby

CP can also happen during or after birth. CP that happens more than 28 days after birth is called acquired CP. Its causes can include:

• Brain damage in the first few months or years of life
• Infections, such as meningitis or encephalitis
• Problems with blood flow to the brain, for example from a stroke or abnormal blood vessels
• Head injuries, for example from a car accident, a fall, or child abuse

In some cases, the cause of congenital or acquired CP is unknown.

Certain medical conditions or events that can happen during pregnancy and delivery may increase a baby's risk of congenital cerebral palsy. These may include:

• Being born too small
• Being born too early
• Being born a twin or other multiple birth
• Being conceived by in vitro fertilization (IVF) or other assisted reproductive technology (ART)
• Infections
• Health problems in the pregnant parent, such as thyroid problems and seizures
• Severe newborn jaundice
• Having complications during birth
• Rh incompatibility
• Exposure to toxic chemicals during pregnancy

There are many different types and levels of disability with CP. So the signs can be different in each child. These signs usually appear in the early months of life. They may include:

• Developmental delays. Your child may be slow to reach developmental milestones such as learning to roll over, sit, crawl, or walk.
• Abnormal muscle tone. Your child may seem floppy, or they may be stiff or rigid.
• An unusual posture or favoring one side of the body when reaching, crawling, or moving.
• Stiff or tight muscles and exaggerated reflexes (spasticity).
• Shaking (tremor) of arms, legs, hands, or feet.
• Sudden, uncontrolled movements.

It's important to know that children without CP can also have these signs. Contact your child's health care provider if your child has any of these signs, so you can get a correct diagnosis.

Diagnosing CP involves several steps:

• Developmental monitoring (or surveillance) means tracking a child's growth and development over time. If there are any concerns about your child's development, they should have a developmental screening test as soon as possible.
• Developmental screening involves giving your child a short test to check for motor, movement, or other developmental delays. If the screenings are not normal, the provider will recommend more evaluations.
• Developmental and medical evaluations are done to diagnose which disorder your child has. To make the diagnosis, your provider:
  • Will check your child's motor skills, muscle tone, reflexes, and posture
  • Will ask about their medical history
  • May order lab tests, genetic tests, and/or imaging tests

There is no cure for CP, but treatment can improve the lives of those who have it. It is important to begin a treatment program as early as possible.

A team of health professionals will work with you and your child to develop a treatment plan. Common treatments include:

• Medicines
• Surgery
• Assistive devices such as braces and walkers
• Physical, occupational, recreational, and speech therapy

You cannot prevent the genetic problems that can cause CP. But it may be possible to manage or avoid some of the risk factors for CP. For example:

• If you are pregnant, make sure that you are vaccinated against infections that could cause CP in your developing baby.
• Get regular prenatal care, which can reduce the risk of preterm birth or having a low birthweight baby. It can also help you manage any health conditions that could raise the risk of CP.
• Use car seats for your baby to prevent head injuries that could cause CP.

Cirrhosis is scarring of the liver. Scar tissue forms because of injury or long-term disease. Scar tissue cannot do what healthy liver tissue does - make protein, help fight infections, clean the blood, help digest food and store energy. Cirrhosis can lead to :

• Easy bruising or bleeding, or nosebleeds
• Swelling of the abdomen or legs
• Extra sensitivity to medicines
• High blood pressure in the vein entering the liver
• Enlarged veins called varices in the esophagus and stomach. Varices can bleed suddenly.
• Kidney failure
• Jaundice
• Severe itching
• Gallstones

A small number of people with cirrhosis get liver cancer.

Your doctor will diagnose cirrhosis with blood tests, imaging tests, or a biopsy.

Cirrhosis has many causes. In the United States, the most common causes are chronic alcoholism and hepatitis. Nothing will make the scar tissue disappear, but treating the cause can keep it from getting worse. If too much scar tissue forms, you may need to consider a liver transplant.

NIH: National Institute of Diabetes and Digestive and Kidney Diseases

Your liver is the largest organ inside your body. It helps your body digest food, store energy, and remove poisons. Fatty liver disease is a condition in which fat builds up in your liver. There are two main types:

• Nonalcoholic fatty liver disease (NAFLD)
• Alcoholic fatty liver disease, also called alcoholic steatohepatitis

NAFLD is a type of fatty liver disease that is not related to heavy alcohol use. There are two kinds:

• Simple fatty liver, in which you have fat in your liver but little or no inflammation or liver cell damage. Simple fatty liver typically does not get bad enough to cause liver damage or complications.
• Nonalcoholic steatohepatitis (NASH), in which you have inflammation and liver cell damage, as well as fat in your liver. Inflammation and liver cell damage can cause fibrosis, or scarring, of the liver. NASH may lead to cirrhosis or liver cancer.

Alcoholic fatty liver disease is due to heavy alcohol use. Your liver breaks down most of the alcohol you drink, so it can be removed from your body. But the process of breaking it down can generate harmful substances. These substances can damage liver cells, promote inflammation, and weaken your body's natural defenses. The more alcohol that you drink, the more you damage your liver. Alcoholic fatty liver disease is the earliest stage of alcohol-related liver disease. The next stages are alcoholic hepatitis and cirrhosis.

The cause of nonalcoholic fatty liver disease (NAFLD) is unknown. Researchers do know that it is more common in people who:

• Have type 2 diabetes and prediabetes
• Have obesity
• Are middle aged or older (although children can also get it)
• Are Hispanic, followed by non-Hispanic Whites. It is less common in African Americans.
• Have high levels of fats in the blood, such as cholesterol and triglycerides
• Have high blood pressure
• Take certain drugs, such as corticosteroids and some cancer drugs
• Have certain metabolic disorders, including metabolic syndrome
• Have rapid weight loss
• Have certain infections, such as hepatitis C
• Have been exposed to some toxins

NAFLD affects about 25% of people in the world. As the rates of obesity, type 2 diabetes, and high cholesterol are rising in the United States, so is the rate of NAFLD. NAFLD is the most common chronic liver disorder in the United States.

Alcoholic fatty liver disease only happens in people who are heavy drinkers, especially those who have been drinking for a long period of time. The risk is higher for heavy drinkers who are women, have obesity, or have certain genetic mutations.

Both NAFLD and alcoholic fatty liver disease are usually silent diseases with few or no symptoms. If you do have symptoms, you may feel tired or have discomfort in the upper right side of your abdomen.

Because there are often no symptoms, it is not easy to find fatty liver disease. Your doctor may suspect that you have it if you get abnormal results on liver tests that you had for other reasons. To make a diagnosis, your doctor will use:

• Your medical history
• A physical exam
• Various tests, including blood and imaging tests, and sometimes a biopsy

As part of the medical history, your doctor will ask about your alcohol use, to find out whether fat in your liver is a sign of alcoholic fatty liver disease or nonalcoholic fatty liver (NAFLD). He or she will also ask which medicines you take, to try to determine whether a medicine is causing your NAFLD.

During the physical exam, your doctor will examine your body and check your weight and height. Your doctor will look for signs of fatty liver disease, such as:

• An enlarged liver
• Signs of cirrhosis, such as jaundice, a condition that causes your skin and whites of your eyes to turn yellow

You will likely have blood tests, including liver function tests and blood count tests. In some cases you may also have imaging tests, like those that check for fat in the liver and the stiffness of your liver. Liver stiffness can mean fibrosis, which is scarring of the liver. In some cases you may also need a liver biopsy to confirm the diagnosis, and to check how bad the liver damage is.

Doctors recommend weight loss for nonalcoholic fatty liver. Weight loss can reduce fat in the liver, inflammation, and fibrosis. If your doctor thinks that a certain medicine is the cause of your NAFLD, you should stop taking that medicine. But check with your doctor before stopping the medicine. You may need to get off the medicine gradually, and you might need to switch to another medicine instead.

There are no medicines that have been approved to treat NAFLD. Studies are investigating whether a certain diabetes medicine or Vitamin E can help, but more studies are needed.

The most important part of treating alcohol-related fatty liver disease is to stop drinking alcohol. If you need help doing that, you may want to see a therapist or participate in an alcohol recovery program. There are also medicines that can help, either by reducing your cravings or making you feel sick if you drink alcohol.

Both alcoholic fatty liver disease and one type of nonalcoholic fatty liver disease (nonalcoholic steatohepatitis) can lead to cirrhosis. Doctors can treat the health problems caused by cirrhosis with medicines, operations, and other medical procedures. If the cirrhosis leads to liver failure, you may need a liver transplant.

If you have any of the types of fatty liver disease, there are some lifestyle changes that can help:

• Eat a healthy diet, limiting salt and sugar, plus eating lots of fruits, vegetables, and whole grains
• Get vaccinations for hepatitis A and B, the flu and pneumococcal disease. If you get hepatitis A or B along with fatty liver, it is more likely to lead to liver failure. People with chronic liver disease are more likely to get infections, so the other two vaccinations are also important.
• Get regular exercise, which can help you lose weight and reduce fat in the liver
• Talk with your doctor before using dietary supplements, such as vitamins, or any complementary or alternative medicines or medical practices. Some herbal remedies can damage your liver.