biliary atresia symptoms, Causes, treated, surgery and diagnosis

Biliary Atresia Symptoms, Causes, Treated, Surgery and Diagnosis

What is biliary atresia?

Biliary atresia is a condition in new born babies in which the bile ducts (tubes draining bile from liver to intestine) are blocked or absent.

Bile is a substance that is made and released by the liver. From the liver, it moves through a network of tube-like structures called bile ducts to the small intestine, where it helps the body break down and absorb food.

In children who have biliary atresia, the bile ducts are blocked because of damage and scarring. As a result, bile can’t flow to the small intestine. Instead, it builds up in the liver and damages it.

Who is affected by biliary atresia?

Biliary atresia is a relatively rare condition present in new born babies. There is no typical predisposition for any gender, race. Any baby can present with typical symptoms beyond first 2 weeks of life.

What are the causes of biliary atresia?

The exact causes of biliary atresia are not known, but may include:

  • Inflammation (swelling) and scarring caused by problems with the immune system
  • Infection by a virus
  • Exposure to harmful chemicals
  • Mutations (changes) in the genes. 
  • In some babies, it is congenital. About one out of every 10 babies suffering from Biliary Atresia also suffer from other congenital problems. 
  • Biliary atresia is not inherited from the baby’s parents.

This disease is not hereditary, contagious and preventable. It is also not related to a mother’s health or mother did or didn’t do during pregnancy.

What are the symptoms of biliary atresia?

The first sign of biliary atresia is jaundice (skin and eyes appear yellow), a condition in which there is too much bilirubin in the blood. Bilirubin is a substance produced when red blood cells break down. Although most newborns have some degree of jaundice in the first week of life, if it is still present after two weeks, it should be checked out by a doctor.

The baby’s stools color is identical- pale/clay/white

Other signs and symptoms of biliary atresia include:

  • Dark brown urine
  • A swollen belly (as the liver and spleen grow)
  • Difficulty gaining weight
  • Ascites (fluid in the belly)
  • Liver failure after several months if the biliary atresia is not treated

How is biliary atresia diagnosed?

To diagnose biliary atresia, the doctor will take the baby’s medical history and perform a physical examination. A pediatric hepatologist, a doctor who specializes in working with children who have liver diseases, may also order certain tests, including:

  • Blood tests to check the levels of bilirubin and to look for signs of liver damage
  • Ultrasound, a procedure that transmits high-frequency sound waves through body tissues. The echoes are recorded and transformed into images of the internal structures of the body.
  • Liver biopsy (the removal of cells or tissue from the liver for examination)
  • Hepatobiliary scan, in which a radioactive substance (tracer) is injected into the bloodstream. If the tracer is not excreted through the liver, the patient may have biliary atresia.
  • Cholangiogram, a surgical invasive procedure in which dye is injected into the gallbladder to see if it has a main bile duct. If it does not, the doctor can diagnose biliary atresia.

How is biliary atresia treated?

There is no cure for biliary atresia. The main treatment is a surgery called the Kasai procedure. In this surgery, the surgeon removes the damaged bile ducts from outside the liver and replaces them with a piece of the patient’s small intestine. The small intestine will then drain the liver directly to the small intestine.

It should be usually performed as early as possible within 90 days of life for good outcome.

If the surgery is not successful, the child will likely need a liver transplant. The child may need a liver transplant even if the surgery is successful, depending on when the surgery is performed & how the liver condition at the time of surgery.

What are the risks of surgery for biliary atresia?

  • Bleeding
  • Cholangitis (infection of the bile ducts and liver)
  • Perforation – Hole in the intestine, which can cause a leakage of the intestinal contents into the belly
  • Blockage of the intestine caused by scarring

What is the outlook (prognosis) for patients who have biliary atresia?

If the child does not have surgery, he or she will usually not live past age 2 without a liver transplant. After the Kasai procedure, how long a child will live without a liver transplant depends on when the procedure was done and the condition of the liver at the time of surgery. Even with a successful surgery, many patients will need a liver transplant at some point in their lives.

 

When should you contact hepatologist Dr Kinisha Patel

Paediatric hepatologist is a super specialist doctor who diagnose and treat liver and biliary diseases
in children.
Liver diseases in children are different than adults as they have varied presentation, as most of them
are progressive from birth or from early infancy.

COMMON SIGNS & SYMPTOMS OF LIVER DISEASE:

  • Jaundice – yellow eyes, skin
  • Dark color urine
  • Change in stool color (Pale yellow or clay or white)
  • Abdominal distension (Fluid in abdomen –ascites)
  • Loss of appetite
  • Itching
  • Pain abdomen (right upper quadrant)
  • Vomiting
  • Blood in vomiting
  • Tarry black color stool

COMMON SIGNS & SYMPTOMS OF PROGRESSIVE CHRONIC LIVER DISEASE:

  • Jaundice
  • Liver &/or spleen enlargement
  • Abnormal behavior
  • Neurological disorientation or other abnormalities with jaundice
  • Nails clubbing
  • Abdominal distention (Ascites)
  • Swelling of limbs
  • Other organ involvement (kidney, lungs)

Role of liver transplant Physician:

  • An expert with experience to manage all children from birth to 18 years of age, who needs liver transplantation along pre & post transplant surgery care (Medical management).
  • To decide when child needs transplant-specific indication other than liver failure How much time we have till liver transplant procedure- to take a decision from advancement of liver disease –whether can be treated medically for longer duration/other option till transplant – supportive management.
  • When transplant is planned – certain contraindication for management like blood transfusion, certain medication use Pre transplant preparations- counselling, documentations, donor & recipient investigations, continuous supportive treatment. To send to correct centre for transplant based on finance, age, weight, emergency, Finance.
  • Post transplant – PICU Care, medical management, immunosuppressant decision, Complication identification & management.
  • Long term follow up care- Regular medications, doses changes, investigations to choose, any complication like rejection, PTLD, Infection, GVHD, surgical complication, drug related complication – to identify correctly & to manage – to contact transplant surgeon (As who has done the surgery must be in loop to know anatomical changes while surgery is been done)

Important Liver Disease

  • Biliary atresia
  • Choledochal cyst
  • Hemochromatosis
  • Viral infection causing liver failure
  • Budd chiari syndrome
  • Metabolic liver disease/In born error of metabolism
  • Neonatal hepatitis
  • PFIC
  • Alagille syndrome

In older children:

  • Autoimmune hepatitis
  • Sclerosing cholangitis
  • Wilson disease
  • Metabolic liver disease
  • Acute liver failure
  • PFIC
  • Viral Hepatitis (A to E)
  • Portal Hypertension
Biliary Atresia Signs and Symptoms

Biliary Atresia Signs and Symptoms – Dr. Kinisha Patel

Biliary Atresia Signs and Symptoms

Biliary atresia is a condition in newborn babies in which the bile ducts (tubes draining bile from liver to intestine) are blocked or absent.

Bile is a substance that is made and released by the liver. From the liver, it moves through a network of tube-like structures called bile ducts to the small intestine, where it helps the body break down and absorb food.

In children who have biliary atresia, the bile ducts are blocked because of damage and scarring. As a result, bile can’t flow to the small intestine. Instead, it builds up in the liver and damages it.

 

Who is affected by biliary atresia?

Biliary atresia is a relatively rare condition present in newborn babies. There is no typical predisposition for any gender, race. Any baby can present with typical symptoms beyond first 2 weeks of life.

What are the causes of biliary atresia?

The exact causes of biliary atresia are not known, but may include:

  • Inflammation (swelling) and scarring caused by problems with the immune system
  • Infection by a virus
  • Exposure to harmful chemicals
  • Mutations (changes) in the genes. 
  • In some babies, it is congenital. About one out of every 10 babies suffering from Biliary Atresia also suffer from other congenital problems. 
  • Biliary atresia is not inherited from the baby’s parents.

This disease is not hereditary, contagious and preventable. It is also not related to a mother’s health or mother did or didn’t do during pregnancy.

What are the symptoms of biliary atresia?

The first sign of biliary atresia is jaundice (skin and eyes appear yellow), a condition in which there is too much bilirubin in the blood. Bilirubin is a substance produced when red blood cells break down. Although most newborns have some degree of jaundice in the first week of life, if it is still present after two weeks, it should be checked out by a doctor.

The baby’s stools color is identical- pale/clay/white

Other signs and symptoms of biliary atresia include:

  • Dark brown urine
  • A swollen belly (as the liver and spleen grow)
  • Difficulty gaining weight
  • Ascites (fluid in the belly)
  • Liver failure after several months if the biliary atresia is not treated

How is biliary atresia diagnosed?

To diagnose biliary atresia, the doctor will take the baby’s medical history and perform a physical examination. A pediatric hepatologist, a doctor who specializes in working with children who have liver diseases, may also order certain tests, including:

  • Blood tests to check the levels of bilirubin and to look for signs of liver damage
  • Ultrasound, a procedure that transmits high-frequency sound waves through body tissues. The echoes are recorded and transformed into images of the internal structures of the body.
  • Liver biopsy (the removal of cells or tissue from the liver for examination)
  • Hepatobiliary scan, in which a radioactive substance (tracer) is injected into the bloodstream. If the tracer is not excreted through the liver, the patient may have biliary atresia.
  • Cholangiogram, a surgical invasive procedure in which dye is injected into the gallbladder to see if it has a main bile duct. If it does not, the doctor can diagnose biliary atresia.

How is biliary atresia treated?

There is no cure for biliary atresia. The main treatment is a surgery called the Kasai procedure. In this surgery, the surgeon removes the damaged bile ducts from outside the liver and replaces them with a piece of the patient’s small intestine. The small intestine will then drain the liver directly to the small intestine.

It should be usually performed as early as possible within 90 days of life for good outcome.

If the surgery is not successful, the child will likely need a liver transplant. The child may need a liver transplant even if the surgery is successful, depending on when the surgery is performed & how the liver condition at the time of surgery.

What are the risks of surgery for biliary atresia?

  • Bleeding
  • Cholangitis (infection of the bile ducts and liver)
  • Perforation – Hole in the intestine, which can cause a leakage of the intestinal contents into the belly
  • Blockage of the intestine caused by scarring

What is the outlook (prognosis) for patients who have biliary atresia?

If the child does not have surgery, he or she will usually not live past age 2 without a liver transplant. After the Kasai procedure, how long a child will live without a liver transplant depends on when the procedure was done and the condition of the liver at the time of surgery. Even with a successful surgery, many patients will need a liver transplant at some point in their lives.

 

What Is a Liver Transplant?

Liver Transplant Surgery Procedure – Dr. Kinisha Patel

A liver transplant is a surgery in which doctors remove a sick (damaged) liver and replace it with a healthy donor liver.

Transplants are done when a child's liver does not work well and he or she won’t survive without a new one. Doctors sometimes call this liver failure. Doctors only recommend a liver transplant after they have tried all other treatments to save the child’s liver.

Most organ donors are adults and children who have agreed (or their guardians have agreed) to donate their organs after they die.

If a child doesn’t need an entire new liver, sometimes a living person, like a parent, can donate part of a liver. This is called a “living-related donor transplant”. A person who donates part of his or her liver can have a normal-sized liver again within just a few months of donating the tissue because livers grow new cells on their own (called regeneration).

What Happens Before a Liver Transplant?

If your child needs a liver transplant, your doctor will refer you to a transplant centre. There,
you’ll meet the members of the transplant team, which usually includes:

  • Surgeons
  • Liver specialists (hepatologists)
  • Transplant coordinator
  • Dietician
  • Psychologists

The health care team will check to make sure that your child is healthy enough to have surgery and take the medicines needed after it. The team will do tests such as:

Blood tests: to determine blood type

Imaging tests: such as an abdominal ultrasound or CT scan

If the transplant team decides your child is a good candidate, the next step is to choose a blood group matched donor. A living donor’s thorough evaluation is done (usually a mother or father whose blood group is matched with the child) Your child’s name will go on an organ waiting list if no suitable living donor is available.

This list has the names of everyone who is waiting for a liver or other organs. Your child might have to wait to find a liver that is a good match. While you wait for a transplant, keep your child as healthy as possible. That way, he or she will be ready for transplant surgery when the time comes. Help your child:

  • Eat healthy foods
  • Take all medicines as directed
  • Keep all medical appointments

Tell your doctor and the transplant center right away if is any change in your child's health.

What Happens During Liver Transplant Surgery?

After liver transplant surgery, your child will go to the  paediatric intensive care unit (PICU) . How long your child stays in the PICU depends on his or her condition. Generally, the stay is just a few days. When ready, your child will be transferred to a special unit for transplant patients. There, the transplant team will care for and closely watch your child. Immunosuppressive medicines are started immediately post transplant with few more medicines.

Most children stay in the hospital for a couple of weeks after surgery. During this time, they and their families learn how to care for the new liver. Be sure you understand the doctor’s instructions, because your child will need to follow them carefully.

In the weeks after your child goes home, regular follow up as advised by Hepatologist is required so that the doctors can make sure that everything is going well.

What Problems Can Happen?

Most kids don’t have any problems after the surgery, but bleeding, infection, and other problems can happen.

One of the most common problems after transplant surgery is rejection. Rejection happens because the body doesn’t recognize the new liver and doesn’t know that it is helpful. So the immune system tries to attack it.

Medicines (called immunosuppressants, or anti-rejection medicines) help to control this reaction. In a sense, they trick the body into accepting the new liver. Taking them can make your child more likely to get infections, especially in the days right after surgery. So keep your child away from sick people, and have everyone at home wash their hands well and often.

The risk of rejection is greatest in the first few weeks after transplant surgery. But the body never completely accepts the new liver. So immunosuppressant medicines are taken for life.

Usually, the amount of immunosuppressants taken is reduced as the body gets used to the new liver. Rarely, the body refuses to accept the new liver and another transplant is needed.

These side effects are a major reason why teens are at risk for not taking their medicines after a transplant. This can be dangerous and even lead to rejection of the new liver. So be sure to talk about the importance of taking all medicines as directed.

 

WHAT DOES A PAEDIATRIC GASTROENTEROLOGIST DO

WHAT DOES A PAEDIATRIC GASTROENTEROLOGIST DO?

Paediatric gastroenterologist is a specialist doctor who diagnose and treat gastrointestinal disorders
in children. Gastrointestinal system includes organs like esophagus (food pipe), stomach, intestine (small and large), pancreas, liver, biliary system (gall bladder and biliary tree), rectum and anus. Any disorder related to above organs present with various signs and symptoms.

Children are not small adults. Gastrointestinal disorders’ presentation are different in children than
adults so they need consultation from Paediatric gastroenterologist.

COMMON SIGNS AND SYMPTOMS OF GASTROINTESTINAL DISORDER

  • Pain abdomen
  • Vomiting
  • Diarrhea
  • Blood in stool
  • Constipation
  • Abdominal distension or mass
  • Anorexia (loss of appetite)

These are some common presentations for gastrointestinal disorders. There are other causes also for above symptoms so need specialist consultations for correct diagnosis and management. Few symptoms can be due to functional disorders. Functional disorders mimic pathological condition’s symptoms but requires certain investigations to rule out.

WHEN SHOULD YOU CONSULT PAEDIATRIC GASTROENTEROLOGIST?: 
If your child is having any of the symptoms as given below, you should consult Paediatric gastroenterologist:

  • Recurrent vomiting
  • Chronic diarrhea (Diarrhea lasting more than 2 weeks)
  • Chronic constipation
  • Recurrent abdominal pain
  • Unexplained not gaining height & weight
  • Feeding difficulties (Regurgitation of food, difficulty in swallowing, painful swallowing)
  • Suspected any food allergy (Symptoms like rash, vomiting, loose stool after ingestion of specific food or milk)
  • Palpable abdominal mass or unusual abdominal distension
  • Blood in stool
  • Blood in vomiting
  • Foreign body (coin, pin, button battery, sharp object etc.) ingestion

Celiac Disease Guide

What is celiac disease?

Celiac disease (pronounced as see-liac) is a serious illness, where own body’s immune system attacks its own tissues (Usually gut- intestine) when you eat gluten. This causes damage to the lining of the intestine it cannot absorb nutrients from food properly and the symptoms appear at any age. Celiac disease is not an allergy or food intolerance.celiac disease

Celiac disease is hereditary, meaning that it runs in families. People with a first-degree relative with celiac disease (parent, child, sibling) have a 1 in 10 risks of developing celiac disease.

What is Gluten?

Gluten is a general name for the proteins found in wheat, rye, barley. Gluten helps foods maintain their shape, acting as a glue that holds food together. Gluten can be found in many types of foods, medicines or even ones that would not be expected.

What are the clinical presentations of celiac disease?

Usually, a child can present when any food item containing gluten is introduced as a weaning food so commonly after 6 months to 24 months of age child can have signs or symptoms.
It is based on age at gluten introduction, amount of wheat eaten and duration of breastfeeding account for variability in age of onset of symptom.
It is very important to treat celiac disease as it may cause severe multi-organ involvement.

Common presentation:

  • Not gaining height & weight
  • Anemia
  • Chronic or recurrent diarrhea
  • Abdominal bloating, pain, constipation
  • Anorexia

Other symptoms may be related to other systems but not common:

  • Raised liver enzymes
  • Arthritis/ arthralgia
  • Osteoporosis
  • Neuropathy, epilepsy
  • Micronutrient/ vitamins deficiency-related problems

Condition at high risk for celiac disease:

  • Type 1 diabetes mellitus
  • Autoimmune thyroiditis
  • Autoimmune liver disease

How to diagnose Celiac disease?

Based on immune condition-related tests and tissue transglutaminase (anti -tTG) antibody or other serology test and Endoscopy (Intestinal biopsy) celiac disease is diagnosed.

What is the treatment of celiac disease?

Only dietary changes is the key treatment for celiac disease. Strict adherence to a gluten-free diet is the only treatment. It is a lifelong treatment.

Food items (Gluten containing) to be avoided:Food items (Gluten containing) to be avoided

  • Wheat / broken wheat (Dalia)
  • Maida
  • Rye
  • Barley
  • Semolina
  • Vermicelli (Sewain)
  • Oats (only labeled as gluten free)
  • Malt

Any packed /processed or canned food, sauces, ready to eat food products, bakery products like:

  • Pastas/Noodles
  • Breads and Pastries: croissants, pita, naan, flatbreads, muffins, donuts, rolls
  • Baked food: cakes, cookies, pie crusts, brownies
  • Cereal & Granola: corn flakes and rice puffs often contain malt extract/flavoring, granola often made with regular oats, not gluten-free oats
  • Breakfast Foods: pancakes, waffles, french toast, biscuits.
  • Sauces, Gravies(puries), instant curry mix, white vinegar, mayonnies, salad dressing
  • Packed Jam/ jelly/chewing gums
  • Flour tortillas
  • Outside Sweets, ice cream, chocolates
  • Chinese food
  • Health Drinks

Other items that must be verified by reading the label or checking with the manufacturer:

  • Lipstick, lip gloss, lip balm, or other cosmetic used near the mouth: They may be unintentionally ingested
  • Oral care and dental products
  • Herbal or nutritional supplements
  • Drugs and medications
  • Vitamins and supplements

How to read a label to check if a packaged food product /medicine is gluten-free?

1. A gluten-free label: FDA only allows packaged foods with less than 20 ppm of gluten to be labeled “gluten-free.” However, you should still check the ingredients list. It is also important to remember that “wheat-free” does not necessarily mean “gluten-free.” They may still contain other form of wheat, rye, or barley-based ingredients that are not gluten-free.

2. Check for obvious ingredients if there is no gluten free label:

  • Wheat
  • Barley
  • Rye
  • Malt
  • Oats (unless specifically labeled gluten-free

3. Check the allergen listing: Some packaging has a list of common allergens found in the product. Such allergens include wheat, soy, egg, nuts, and milk. This list can be a quick way to rule something out if the package says: “contains wheat.” However, a lack of allergen labeling does not mean that the product is gluten-free. Barley and rye are not in the top eight allergens required to be listed. Be sure to check the ingredients list for other hidden sources of gluten.

4. To check gluten free drugs: Ask your pharmacist for gluten free medications. Medicines which contain wheat starch is usually avoided. Majority of them are gluten free but few antibiotics and other medications may contain gluten. Go through website www.glutenfreedrugs.com for more details.

What is Gluten Free diet? What can be given?

  • Rice
  • Corn (maize)
  • Sorghum (Jowar)
  • Millet (Bajra)
  • Quinoa (Rajgira)
  • Soy
  • Potato
  • Beans
  • Arrowroot
  • Amaranth (Aamla)
  • Flax (Alasi)
  • Chia
  • Gluten-free oats
  • Nut flours (gram flour, singhara flour)
  • Nuts
  • Fruits
  • Vegetables
  • Eggs
  • Meat and poultry
  • Fish and seafood

There has been some research that some naturally gluten-free grains may contain gluten from cross-contact with gluten-containing grains through harvesting and processing.

Other food items which can be given in children with celiac disease:

  • Homemade biscuits or cake made with rice, maize or arrowroot
  • Sugar candy
  • Homemade sweets, ice creams, fruit jam
  • Milk, tea, coffee, buttermilk, curd
  • Fruit juices (not canned)
  • Home made clear soups (no flour for thickening)
  • Homemade cottage cheese (Paneer)
  • Homemade squashes, pickles, tomato sauce or other gravies and puries

What are the key points to keep in mind for celiac disease treatment?

  • Gluten free diet is the only treatment, which is to be continued life- long.
  • Homemade grinding is preferred. Use separate atta maker (Atta Chakki) at home to prevent contamination for best outcome
  • Other vitamin supplements – iron, folic acid, calcium, vitamin D3, zinc, micronutrient supplements are must along with GFD( gluten free diet)
  • Problems due to low fibre diet needs to be addressed
  • Regular follow up & counselling by dietician & a gastroenterologist is must.
  • Periodic growth monitoring and serology testing
  • Compliance is must for diet
  • Treating doctor must be aware of Celiac crisis / re-feeding syndrome due to metabolic abnormalities

Recurrent Or Chronic Pain Abdomen In Children

Stomach pain• WHAT IS RECURRENT OR CHRONIC PAIN ABDOMEN?

Any child having pain abdomen over a 3 months period with or without asymptomatic time interval is labeled as recurrent or chronic pain abdomen.

• WHAT ARE THE CAUSES OF CHRONIC PAIN ABDOMEN?

It is of two types: Functional and organic cause.

In most of children, its mainly functional cause (no pathology is found). Very few cases have underlying organic causes related to a specific organs. It can be due to anatomical problems, inflammatory processes, metabolic or other pathology.

• WHAT IS FUNCTIONAL PAIN ABDOMEN?

Functional abdominal pain is where no structural, metabolic, inflammatory or neoplastic process is found to cause significant abdominal pain.

• WHAT ARE FUNCTIONAL PAIN RELATED ABDOMEN DISORDERS?

Few functional disorders are functional constipation, functional dyspepsia, abdominal migraine, cyclical vomiting syndrome etc.

• BASED ON SYMPTOMS, HOW TO APPROACH A CASE OF RAP-TO DIFFERENTIATE FUNCTIONAL FROM ORGANIC

Usually functional pain abdomen is around umbilicus, nonspecific, non radiating, not related to any food intake, at various occasions and usually no night time symptoms. Basic physical examination and few investigations are needed to rule out common organic, pathological cause.

• WHAT ARE THE POSSIBLE REASONS OF FUNCTIONAL ABDOMINAL PAIN?

Functional abdominal pain is commonly due to stress, emotional disturbances, family environmental stimulatory factors, hypersensitivity of gut, altered intestinal motility.

• WHEN PARENTS SHOULD BE ALERT & CONSULT PAEDIATRIC GASTROENTEROLOGIST BASED ON RED FLAGS SIGNS OR SYMPTOMS?

  • If your child is having night time awakening due to pain abdomen
  • If pain is localized to specific region with tenderness
  • If your child is having radiating pain to other region
  • If pain is associated with fever, weight loss, enlarged abdominal organ, rash, blood in stool, diarrhea

• WHAT ARE THE INVESTIGATIONS TO RULE OUT ORGANIC CAUSE OF PAIN ABDOMEN?

  • Blood investigations
  • Ultrasound or contrast studies or other radiological investigations
  • Endoscopy

• WHAT IS THE TREATMENT OF FUNCTIONAL PAIN ABDOMEN?

Parents play an important role for behavioral therapy. Few dietary changes can be helpful. There is no specific treatment with antispasmodic medications as it may cause constipation and further aggravate the pain.