Diseases » Neonatal Jaundice » Diagnosis

Diagnosis of Neonatal Jaundice

Neonatal Jaundice Diagnosis: Book Excerpts

• Ask the Following Questions - JAUNDICE
• Differential Diagnosis - Jaundice
• Differential Diagnosis - Jaundice in Infants – Direct
• Differential Diagnosis - Jaundice in Infants – Indirect
• Approach to the Diagnosis - JAUNDICE
• History and physical examination - Jaundice
• History and physical examination - Jaundice [Icterus]
• History - Jaundice
• Differential Overview - Jaundice
• History - Jaundice
• Clinical Features and Diagnosis Unconjugated Hyperbilirubinemia(Neonatal Onset) - Jaundice
• History and physical examination - Jaundice [Icterus]
• Approach to the Diagnosis - JAUNDICE
• I. History of Present Illness - Jaundice - Case 15-4 6-Week-Old Girl
• I. History of Present Illness - Jaundice - Case 15-6 5-Week-Old Girl
• Jaundice - DIAGNOSIS - Jaundice

Diagnosis of Neonatal Jaundice: medical news summaries:

The following medical news items are relevant to diagnosis and misdiagnosis issues for Neonatal Jaundice:

• Facts on Gestational Diabetes
• More news »

Diagnostic Tests for Neonatal Jaundice: Online Medical Books

16 MEDICAL BOOKS ONLINE! Review excerpts from medical books online, free, without registration, for more information about diagnostis of Neonatal Jaundice.

JAUNDICE: Ask the Following Questions:
(Algorithmic Diagnosis of Symptoms and Signs)

1. Is the jaundice associated with hepatomegaly? There is little or no hepatomegaly associated with hemolytic anemias, pernicious anemia, Gilbert's disease, and Dubin-Johnson syndrome.
2. Is the hepatomegaly massive? Massive hepatomegaly is associated with Gaucher's disease.
3. Is there associated fever, right upper quadrant pain, or a tender liver? These findings would suggest viral hepatitis, cholecystitis, infectious mononucleosis, leptospirosis, ascending cholangitis, hepatic vein thrombosis, and toxic hepatitis.
4. Is the gallbladder enlarged? The finding of an enlarged gallbladder with the jaundice suggests obstructive jaundice, carcinoma of the pancreas, carcinoma of the bowel ducts, or ampulla of Vater.
5. Is there skin pigmentation? The presence of skin pigmentation that is not bilirubin suggests hemochromatosis.
6. Is there splenomegaly? The presence of significant splenomegaly suggests infectious mononucleosis, cirrhosis of the liver, hemolytic anemia, Gaucher's disease, kala azar, or agnogenic myeloid metaplasia.
7. Is there edema and ascites? The presence of edema and ascites suggests alcoholic cirrhosis.

DIAGNOSTIC WORKUP

The basic workup includes a CBC, sedimentation rate, reticulocyte count, red cell fragility test, urinalysis, chemistry panel, VDRL test, EKG, a chest x-ray, and flat plate of the abdomen.

If infectious hepatitis is suspected, a hepatitis profile, febrile agglutinins, Monospot test, cytomegalic virus antibody titer, and leptospirosis antibody titer should be done. If lupoid hepatitis is suspected, a test for antinuclear antibodies and a smooth muscle antibody should be done.

If hemochromatosis is suspected, a serum iron, iron-binding capacity, and ferritin should be done.

If hemolytic anemia is suspected, serum haptoglobins, hemoglobin electrophoresis, and sickle cell preparations may be done.

If obstructive jaundice is suspected, then gallbladder ultrasound should be done to rule out gallstones, and a CT scan of the abdomen may be done to look for GI neoplasm. An upper GI series may assist in finding a primary neoplasm in the GI tract.

ERCP or percutaneous transhepatic cholangiography will assist in determining whether there is definitely obstructive jaundice and whether it is due to a surgically resectable lesion. Peritoneoscopy can also be helpful. An exploratory laparotomy will probably be necessary regardless of whether one performs the above tests. Cholangiopancreatography and endoscopic ultrasonography are two newer methods that may be used to evaluate the biliary tree and pancreatic ducts, especially when a neoplasm is suspected.

Hepatocellular jaundice will often require a needle biopsy of the liver to pin down the diagnosis. Antimitochondrial antibodies will need to be ordered to screen for biliary cirrhosis. An alpha 1-fetoprotein will help diagnose hepatocellular carcinoma. By the time you have reached this point, you have gone to considerable expense in the diagnostic workup. It would be much more prudent to ask for a gastroenterology consultation before ordering all these expensive diagnostic tests.

 

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Source: Algorithmic Diagnosis of Symptoms and Signs, 2003

Jaundice: Differential Diagnosis
(In a Page: Signs and Symptoms)

• Viral hepatitis
  –Fatigue, anorexia, fever, nausea, vomiting, dark urine, light-colored (acholic) loose stools, RUQ pain, hepatomegaly, and/or pruritis

• Alcoholic hepatitis
  –Associated with fever, leukocytosis, and AST:ALT ratio >2

• Nonalcoholic steatohepatitis or nonalchoholic fatty liver disease
  –Associated with obesity, diabetes, hyperlipidemia and medications

• Cholecystitis
  –RUQ pain, fever, leukocytosis
  –Female, fertile, fat, forty
  –Murphy's sign: Pain upon palpation of the
  gallbladder while taking a deep breath

• Drugs and toxins
  –Acetaminophen, alcohol, estrogens, isoniazid, chlorpromazine, erythromycin, nitrofurantoin, rifampin

• Gilbert's syndrome
  
  –Decreased conjugation of bilirubin, especially with dehydration, fasting, infection

Sepsis

Malignancy (liver, pancreas, gallbladder/common bile duct, metastatic)

• Liver infiltration
  –Amyloidosis, lymphoma, sarcoidosis, tuberculosis

Total parenteral nutrition (usually requires at least 2 weeks of therapy)

Intravascular hemolysis

• Cholangitis
  –Charcot's triad of fever, RUQ pain, and jaundice

Sickle cell disease
–Chronic hemolysis, hepatic dysfunction

• Autoimmune hepatitis
  –May mimic viral hepatitis
  –Females >> males, often 10–30 years old
  –Associated with autoimmune disease
  (e.g., RA, UC, Sjögren's syndrome, thyroiditis)

Intrahepatic cholestasis of pregnancy
–Pruritus in third trimester
–Resolves after delivery

Hereditary cholestatic disorders (e.g., Dubin-Johnson syndrome, Rotor syndrome)

Physiologic jaundice of newborn

Workup and Diagnosis

• History and physical examination
  –Duration, associated symptoms (e.g., abdominal pain, constitutional symptoms, pruritis), history of alcohol use or hepatotoxic medications, and/or personal/family history of liver disease
  –Jaundice is best seen in the periphery of ocular conjunctivae and oral mucous membranes
  –Yellow skin discoloration may occur with elevated serum carotene level without scleral icterus
  –Evaluate for hepatomegaly, splenomegaly, palpable gallbladder, and signs of chronic liver disease (e.g., gynecomastia, testicular atrophy, palmar erythema, spider telangiectasias)

• Initial laboratory evaluation includes total and unconjugated (indirect) bilirubin (cannot detect jaundice until serum bilirubin >2 mg/dL), AST, ALT, alkaline phosphatase (elevated with hepatocellular damage or cholestasis), albumin, HIV and hepatitis serologies (if risk factors present), reticulocyte count, LDH, haptoglobin (hemolysis), prothrombin time (to evaluate synthetic liver dysfunction or vitamin K deficiency), ANA (autoimmune hepatitis), and possibly antimitochondrial antibodies (primary biliary cirrhosis)
• Abdominal ultrasound or CT scan to evaluate for biliary obstruction, dilated ducts, pancreatic mass, or gallstones
• ERCP if extrahepatic obstruction on imaging tests
• Liver biopsy is generally not necessary

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Source: In a Page: Signs and Symptoms, 2004

Jaundice in Infants – Direct: Differential Diagnosis
(In A Page: Pediatric Signs and Symptoms)

• Bile duct obstruction
  –Biliary atresia: Represents the most frequent cause for liver transplantation in the pediatric patient; prompt diagnosis is crucial, as patient outcome is better if intervention comes before 60 days of life
  –Choledochal cyst
  –Common bile duct gallstone
  –Choledochocele
  –Bile duct stricture
  –Alagille syndrome
  –Caroli disease
  –Congenital hepatic fibrosis

• Neonatal hepatitis
  –Idiopathic hepatitis: Diagnosis of exclusion that should be made only when other causes are excluded; accounts for 60% of patients with neonatal cholestasis
  –Infections: TORCH, hepatitis B, HIV, E. coli, adenovirus, enterovirus, parvovirus B16, tuberculosis, listeriosis, malaria

• Metabolic disorders
  –α-1 antitrypsin deficiency
  –Cystic fibrosis
  –Hypothyroidism
  –Neonatal iron storage disease
  –Amino acids: tyrosinemia
  –Carbohydrates: Galactosemia, fructosemia
  –Lipids: Niemann-Pick, Gaucher, Wolman, cholesterol ester storage disease
  –Mitochondropathies
  –Bile acid synthetic disorders
  –Peroxisomal: Zellweger syndrome
  –Urea cycle defects
• Toxins
  –Total parenteral nutrition
  –Drugs: Trimethaprim-sulfamethoxazole, anticonvulsants
• Miscellaneous
  –Sepsis/hypoperfusion
  –Erythrophagocytic lymphohistiocytosis
  –Extracorporeal membrane oxygenation
  –Trisomy 17, 18, 21
  –Neonatal lupus erythematosus
  –Donohue syndrome
  –Rotor syndrome
  –Dubin-Johnson syndrome
  –Byler disease (PFIC type 1)
  –Cholestasis of North-American Indians
  –Nielsen syndrome

Workup and Diagnosis

• History
  –Prenatal/perinatal history: Infections, gestational age, birth weight, miscarriages, newborn screen
  –Age of onset, activity level, oral intake, urine output, stool color, emesis, hematemesis, hematochezia, melena, bruising, bleeding, fever, developmental milestones, medications, formula type
• Physical exam: Weight/length, icteris, dysmorphic features, cardiac murmur, ascites, abdominal distension, hepatosplenomegaly, edema, bruising, tone, reflexes
• Labs (initial): Fractionated bilirubin (total, indirect, direct), AST, ALT, GGT, alkaline phosphatase, total protein, albumin, CBC, electrolytes including glucose, PT, PTT, blood/urine culture, U/A
• Labs (directed): Thyroid function tests, serum α-1 antitrypsin level, urine for reducing sugars, serum and urine amino acids, urine organic acids including succinylacetone, infectious serologies, serum iron levels, sweat test, consider Alagille genetic testing
• Ultrasound provides best initial radiographic study for obstruction, hepatosplenomegaly
  
• Hepatobiliary scintigraphy (HIDA scan)
• Percutaneous liver biopsy
  –Histology, virology, electron microscopy for bile duct expansion/paucity, storage disorders
• Exploratory laparotomy and intraoperative cholangiogram to rule out biliary atresia
• Consider X-ray for butterfly vertebrae (for Alagille)

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Source: In A Page: Pediatric Signs and Symptoms, 2007

Jaundice in Infants – Indirect: Differential Diagnosis
(In A Page: Pediatric Signs and Symptoms)

• Icterus neonatorum (physiologic jaundice)
  –The most common form of indirect jaundice in infants under 14 days of age
  –Caused by increased bilirubin production with transient limited conjugation abilities
• Breast-feeding jaundice
  –Occurs in first week of life in 13% of breast-fed infants
  –Secondary to poor volume intake
• Breast-milk jaundice
  –Occurs in about 2% of breast-fed infants after day 7 of life
  –Secondary to glucuronidase in breast milk
• Hematologic: Hemolysis increases bili load
  –Rh incompatability
  –ABO incompatability
  –Glucose-6-phosphate dehydrogenase (G6PD) deficiency
  –Pyruvate kinase deficiency
  –Hereditary spherocytosis
  –Elliptocytosis
  –Thalassemia
  –Polycythemia
• Extravascular blood
  –Cephalohematoma
  –Trauma
  –Swallowed maternal blood
• Endocrinologic
  –Hypothyroidism
  –Maternal diabetes
• Sepsis
• Metabolic
  –Crigler-Najjar I
  –Crigler-Najjar II (Arias syndrome)
  –Crigler-Najjar III
• Cardiopulmonary
  –Congestive heart failure
  –Patent ductus arteriosus
  –Portal vein thrombosis
• Anatomic
  –Pyloric stenosis
  –Duodenal atresia/stenosis
  –Duodenal web
• Drugs
  –Oxytocin
  –Sulfonamides
  –Ceftriaxone
  –Chuen-Lin
• Lucey-Driscoll syndrome

Workup and Diagnosis

• History
  –Prenatal/perinatal: Pregnancy complications, gestational age, maternal blood type/Rh, drug use, infections, delivery method, delivery intervention, birth weight, newborn screen results, previous miscarriages
  –HPI: Onset of jaundice, feeding tolerance, appropriate weight gain, trauma, evidence of bleeding/bruising, urine output, stool output/diarrhea, emesis, lethargy, drug exposure
  –Diet history: Breast- and/or formula-fed, length of time on each breast, latch strength
  –Family history: Bleeding disorders, perinatal deaths, endocrinopathies

• Physical exam
  –Weight, overall appearance, level of jaundice, fontanelle size, cranial abnormalities, scleral icteris, mucous membranes, cardiac murmurs, hepatosplenomegaly, bruising, bleeding, reflexes, tone, seizures
• Labs: Fractionated bilirubin (total, indirect, direct), CBC with smear, reticulocyte count
• Hemolysis: Blood type/Rh, Coombs, hemoglobin electrophoresis
• Thyroid function tests (check state newborn screen)
• Limited value of imaging unless looking for obstruction or bleeding
• Hearing evaluation if kernicterus likely

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Source: In A Page: Pediatric Signs and Symptoms, 2007

JAUNDICE: Approach to the Diagnosis
(Differential Diagnosis in Primary Care)

The accurate diagnosis of jaundice is established by the association of other symptoms and the performance of liver function and special diagnostic procedures. For example, jaundice with fever, a prodromal phase of anorexia, malaise, and a tender liver suggests hepatitis. Jaundice with itching suggests xanthomatous or primary biliary cirrhosis. Jaundice and anemia suggest hemolytic anemia. Jaundice, back pain, and an abdominal mass suggest a carcinoma of the pancreas.

When liver functions show only an elevated indirect bilirubin level, Gilbert disease or hemolytic anemia is suggested. A normal urine urobilinogen will make Gilbert disease even more likely. Liver function analyses showing only elevated bilirubin and alkaline phosphatase levels suggest bile duct obstruction by a stone or tumor. Liver function results showing an impressive elevation of the bilirubin, serum aspartate aminotransferase, and serum alanine aminotransferase levels suggest hepatitis.

In cases in which obstruction versus parenchymal disease remains a dilemma after routine tests, several newer procedures have been developed that may help avoid an exploratory laparotomy. ERCP, cutaneous transhepatic cholangiography, and peritoneoscopy are very useful in these cases. CT scans and ultrasonography are also valuable. The old steroid whitewash is still useful. This is done by administering 20 mg of prednisone daily for 5 days and monitoring the bilirubin level. A positive test, indicating parenchymal diseases, is considered a drop of the bilirubin to one half its original value or more. Exploratory laparotomy may be necessary despite an extensive workup.

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Source: Differential Diagnosis in Primary Care, 2007

Jaundice: History and physical examination
(Handbook of Signs & Symptoms (Third Edition))

Documenting a history of the patient’s jaundice is critical in determining its cause. Begin by asking the patient when he first noticed the jaundice. Does he also have pruritus, clay-colored stools, or dark urine? Ask about past episodes or a family history of jaundice. Does he have nonspecific signs or symptoms, such as fatigue, a fever, or chills; GI signs or symptoms, such as anorexia, abdominal pain, nausea, weight loss, or vomiting; or cardiopulmonary symptoms, such as shortness of breath or palpitations? Ask about alcohol use and a history of cancer or liver or gallbladder disease. Has the patient lost weight recently? Also, obtain a drug history. Ask about a history of hepatitis, gallstones, or liver or pancreatic disease.

Perform the physical examination in a room with natural light. Make sure that the orange-yellow hue is jaundice and not due to hypercarotenemia, which is more prominent on the palms and soles and doesn’t affect the sclera. Inspect the patient’s skin for texture and dryness and for hyperpigmentation and xanthomas. Look for spider angiomas or petechiae, clubbed fingers, and gynecomastia. If the patient has heart failure, auscultate for arrhythmias, murmurs, and gallops as well as crackles and abnormal bowel sounds. Palpate the lymph nodes for swelling and the abdomen for tenderness, pain, and swelling. Palpate and percuss the liver and spleen for enlargement, and test for ascites with the shifting dullness and fluid wave techniques. Obtain baseline data on the patient’s mental status: Slight changes in sensorium may be an early sign of deteriorating hepatic function.

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Source: Handbook of Signs & Symptoms (Third Edition), 2006

Jaundice [Icterus]: History and physical examination
(Professional Guide to Signs & Symptoms (Fifth Edition))

Documenting a history of the patient’s jaundice is critical in determining its cause. Begin by asking the patient when he first noticed the jaundice. Does he also have pruritus, clay-colored stools, or dark urine? Ask about past episodes or a family history of jaundice. Does he have nonspecific signs or symptoms, such as fatigue, fever, or chills; GI signs or symptoms, such as anorexia, abdominal pain, nausea, weight loss, or vomiting; or cardiopulmonary symptoms, such as shortness of breath or palpitations? Ask about alcohol use and a history of cancer or liver or gallbladder disease. Has the patient lost weight recently? Also, obtain a drug history. Ask about a history of hepatitis, gallstones, or liver or pancreatic disease.

Perform the physical examination in a room with natural light. Make sure that the orange-yellow hue is jaundice and not due to hypercarotenemia, which is more prominent on the palms and soles and doesn’t affect the sclera. Inspect the patient’s skin for texture and dryness and for hyperpigmentation and xanthomas. Look for spider angiomas or petechiae, clubbed fingers, and gynecomastia. If the patient has heart failure, auscultate for arrhythmias, murmurs, and gallops. For all patients, auscultate for crackles and abnormal bowel sounds. Palpate the lymph nodes for swelling and the abdomen for tenderness, pain, and swelling. Palpate and percuss the liver and spleen for enlargement, and test for ascites with the shifting dullness and fluid wave techniques. Obtain baseline data on the patient’s mental status: Slight changes in sensorium may be an early sign of deteriorating hepatic function. (See Differential diagnosis: Jaundice, pages 462 and 463.)

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Source: Professional Guide to Signs & Symptoms (Fifth Edition), 2006

Jaundice: History
(The 10-Minute Diagnosis Manual: Symptoms and Signs in the Time-Limited Encounter)

 A. Does the patient have exposure risk to alcohol, drugs, toxins, or medications? A history of nonprescription and prescription drugs and potential chemical toxins at home or work must be elicited.

 B. Recent trauma can result in hemolysis. Pruritus, dark urine, and clay-colored stools suggest cholestasis. If the patient presents with right upper quadrant pain and nausea following a fatty meal, think cholelithiasis. A fever with right upper quadrant pain suggests cholangitis or, with a history of exposure, hepatitis. Jaundice, vague epigastric discomfort, and weight loss suggest pancreatic cancer. A family history of liver disease points to a hereditary cause (e.g., Gilbert’s or Wilson’s syndromes).

C. Is the jaundice acute or chronic? Acute onset of jaundice suggests a viral hepatitis, acute liver failure, or an acute biliary tract obstruction. Gradual onset of jaundice points to chronic liver failure, alcohol toxicity, or malignancy. A lifelong history of jaundice suggests an inherited metabolic or hemolytic cause.

Physical examination

The physical examination should focus on the following: Eyes should be examined for icterus or Kayser-Fleischer rings, which are copper-colored rings suggestive of Wilson’s disease. Heart and lung examination revealing S₃ gallop or rales is suggestive of congestive heart failure, which leads to passive liver congestion. Ascites, hepatosplenomegaly, venous hum, and tenderness on abdominal examination points to portal hypertension and indicates liver cirrhosis (Chapters 9.2 and 9.9). Suspect pancreatic carcinoma when a nontender, palpable mass is found on upper abdominal examination. Signs of cirrhosis include excoriations, spider nevi, caput medusa, Dupytren’s contracture, gynecomastia, and palmar erythema. Delirium, drowsiness, asterixis, and tremor occur with liver failure.

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Source: The 10-Minute Diagnosis Manual: Symptoms and Signs in the Time-Limited Encounter, 2000

Jaundice: Differential Overview
(Field Guide to Bedside Diagnosis)

Conjugated

❑ Viral hepatitis

❑ Gallstone obstruction

❑ Drugs

❑ Carotinemia

❑ Alcohol-induced hepatitis

❑ Cirrhosis

❑ Pregnancy (cholestatic)

❑ Postoperative

❑ Metastatic cancer

❑ Pancreatic cancer

❑ Ampullary carcinoma

❑ Hepatoma

❑ Sclerosing cholangitis

❑ Primary biliary cirrhosis

❑ Leptospirosis

❑ Hepatic vein obstruction (Budd-Chiari)

❑ Hemochromatosis

Unconjugated

❑ Hemolysis

❑ Gilbert syndrome

❑ Sepsis

Diagnostic Approach

Jaundice becomes clinically apparent when the bilirubin level reaches 2 to 2.5 mg/dL. Scleral elastin has a high affinity for bilirubin, and with a white background, it is a sensitive indicator of jaundice. Biliary obstruction gives a greenish skin tint due to accumulation of biliverdin. Hemolysis gives a lemon-yellow tint when observed in natural light. An orange-yellow color is more consistent with hepatocellular disease. Pseudojaundice may be found in black patients with pigmented sclera, with carotinemia, with uremia (a sallow yellowish pallor), and with quinacrine (a yellow-green color).

Dark urine with green foam confirms a conjugated hyperbilirubinemia and excludes hemolysis or a conjugating defect. Unconjugated bilirubin is tightly bound to albumin, which prevents glomerular filtration.

Courvoisier law states: “In a jaundiced patient, a palpable gallbladder indicates that the jaundice is not due to stones.” Painless jaundice usually suggests a gradual process, as is found in intrahepatic cholestasis. The liver in this case is usually enlarged, smooth, and nontender. A patient with hepatocellular disease appears more ill than one with obstruction. Fluctuating jaundice occurs with gallstones, ampullary carcinoma, or toxins.

Anorexia, nausea, vomiting, or weight loss within 2 weeks of the appearance of jaundice suggests acute hepatitis or gallstones. Appearance more than 2 weeks prior suggests malignant biliary obstruction, chronic hepatitis, or toxin exposure (e.g., alcohol). Generalized pruritus suggests biliary obstruction, either extrinsic due to tumor, or canalicular due to drug-induced intrahepatic cholestasis.

Ascites with jaundice is an ominous sign, signifying decompensated cirrhosis with portal hypertension or malignancy with liver metastases. In portal hypertension, veins are engorged radially away from the umbilicus. In inferior vena cava obstruction, flow occurs upward over the abdominal wall. A harsh hepatic bruit may occur with malignancy, alcoholic hepatitis, or hemangioma. Splenomegaly without hepatomegaly occurs with hemolysis or portal vein occlusion.

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Source: Field Guide to Bedside Diagnosis, 2007

Jaundice: History
(Signs & Symptoms: A 2-in-1 Reference for Nurses)

Begin by asking the patient when he first noticed the jaundice. Does he also have pruritus, clay-colored stools, or dark urine? Ask about past episodes or a family history of jaundice. Does he have nonspecific signs or symptoms, such as fatigue, fever, or chills; GI signs or symptoms, such as anorexia, abdominal pain, nausea, weight loss, or vomiting; or cardiopulmonary symptoms, such as shortness of breath or palpitations? Ask about alcohol use and a history of cancer or liver or gallbladder disease. Has the patient lost weight recently? Also, obtain a drug history. Ask about a history of hepatitis, gallstones, or pancreatic disease.

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Source: Signs & Symptoms: A 2-in-1 Reference for Nurses, 2007

Jaundice: Clinical Features and Diagnosis: Unconjugated Hyperbilirubinemia(Neonatal Onset)
(The Diagnostic Approach to Symptoms and Signs in Pediatrics)

Increased Bilirubin Production

Physiologic

Physiologicjaundice is most common cause of jaundice in newborns. Certain mechanismsproduce physiologic jaundice:

Decrease in life span of red cells (70–80days)

Increase in number of red cells incirculation (normal hematocrit range in newborns, 45–65%)

Increase in blood volume of newborns(85–90 mL/kg)

Enhanced enterohepatic circulationsecondary to diminished intestinal motility

Decrease in activity of enzyme uridinediphosphate glucuronyl transferase, which catalyzes conjugationof bilirubin with glucuronic acid

In term infants, jaundice appears after24 hrs of age, peaks at 2–4 days of age, and resolves at1–2 wks of age.

In preterm infants, maximum serum bilirubinis usually 3–5 mg/dL higher than in term infants.It peaks at 5–7 days of age and usually returns to normalby 2 mos. Maisels and Gifford (1986) reported that ninety-seventhpercentile for maximum serum bilirubin concentration is 12.4 mg/dLfor bottle-fed infants and 15.7 mg/dL for breast-fed infants.

Diagnosis of physiologic jaundice isone of exclusion.

Hemolytic Anemia

Isoimmunization

ABO incompatibilityis most common cause of isoimmunization in newborns. Potential ABOincompatibility exists with type O mother and type A or B infant.Serum bilirubin varies with degree of hemolysis, which is usuallymild. Direct Coombs test is usually positive.

Rh isoimmunization is uncommon nowbecause anti-D immune globulin can be given to Rh-negative motherafter delivery of her infant or after an abortion. Otherwise, Rhisoimmunization can be anticipated by prenatal Rh testing and monitoredwith serial amniocenteses during pregnancy. Intrauterine transfusioncan be performed if necessary.

If not recognized prior to delivery,Rh incompatibility may cause anemia, jaundice, hepatosplenomegaly,and cardiac failure at birth or in first 24 hrs of life. Positivedirect Coombs test of infant's blood indicates that maternalimmunoglobulin G (IgG) has crossed placenta and attached to infant'sred cell antigens.

Minor group antibodies against otherRh antigens and Lewis, Kell, and Duffy systems also may cause hemolysis.

Red Cell Enzyme Defects

Glucose-6-Phosphate Dehydrogenase Deficiency

X-linkeddisorder that is most common red cell enzyme deficiency.

Incidence among African-American malesis about 10%, but hemolysis is unusual except with infectionor exposure to certain drugs (e.g., sulfonamides).

In some infants, jaundice may occurwithout exposure to known hemolytic agents.

Quantitative assay of enzyme in redcells confirms diagnosis [see Chap. 45, Pallor (Anemia)].

Pyruvate Kinase Deficiency

Second mostcommon red cell enzyme deficiency.

May present in neonatal period withhemolytic anemia and jaundice.

Assay of enzyme in red cells confirmsdiagnosis [see Chap.45, Pallor (Anemia)].

Other Enzyme Defects

Hemolyticanemia and jaundice also can occur with deficiencies of certainred cell enzymes:

Hexokinase

Glucose phosphate isomerase

Phosphofructokinase

Triose phosphate isomerase

Glyceraldehyde-3-phosphate dehydrogenase

Phosphoglycerate kinase

2,3-Bisphosphoglycerate mutase

Pyrimidine-5′-nucleotidase

Measuring concentration of deficientenzyme in red cells confirms diagnosis.

Red Cell Membrane Defects

Hereditary Spherocytosis

Most commonred cell membrane defect.

Usual manifestations are hemolyticanemia, mild jaundice, and splenomegaly. Blood smear shows densemicrospherocytes.

Positive incubated osmotic fragilitytest result confirms diagnosis [see Chap. 45, Pallor (Anemia)].

Hereditary Elliptocytosis

May produce hemolytic anemia and mild jaundicein neonatal period. Presence of elliptocytes on blood smear confirmsdiagnosis [see Chap.45, Pallor (Anemia)].

Hereditary Stomatocytosis

Stomatocytesare red cells with slit-like area of pallor in their center.

In some cases severe hemolysis canproduce jaundice and splenomegaly.

Presence of stomatocytes on blood smearis diagnostic [see Chap.45, Pallor (Anemia)].

Infantile Pyknocytosis

Transientabnormality of erythrocyte morphology whose cause is unknown.

Hemolytic anemia usually peaks at 3–4wks of age.

Diagnostic blood smear shows densespiculated red cells called pyknocytes.

Spontaneous resolution occurs in afew months as soon as normal red cells replace abnormal ones.

Septicemia

May cause hemolysis with increase in unconjugatedbilirubin and jaundice. Resolution occurs with successful treatmentof septicemia.

Polycythemia

During first2 days of life, about 5% of newborns have polycythemia,which is defined as a venous Hct >65%.

Possible causes include delayed clampingof umbilical cord, maternal-fetal or twin-twin transfusion, intrauterinehypoxia, and maternal diabetes mellitus. Destruction of larger redcell mass than normal leads to unconjugated hyperbilirubinemia.

Enclosed Hematoma

Birth trauma may produce large cephalohematoma,subdural hematoma, or sequestered blood in abdomen or chest. Destructionof red cells produces increase in unconjugated bilirubin that usuallyresolves by 1–2 wks of age.

Decreased Bilirubin Uptake, Storage, or Metabolism

In addition to causes discussed below, unconjugatedhyperbilirubinemia due to decreased bilirubin uptake, storage, ormetabolism can have physiologic or septicemic causes.

Hypoxia and Acidosis

May contribute to increase in serum bilirubinconcentration because of decreased binding of bilirubin with albumin.

Hypoalbuminemia

If serum level of albumin is decreased, lessis available to bind bilirubin, and jaundice may occur.

Increased Serum Fatty Acids

Primary metabolic products of intravenousfat emulsions are free fatty acids. In high concentration, theycan block binding of bilirubin and albumin, which leads to higherserum bilirubin concentration.

Drugs

Sulfonamides and ceftriaxone displace bilirubinfrom secondary albumin-binding sites, which can lead to increasein serum bilirubin concentration.

Hypothyroidism

Althoughjaundice may be one presenting sign of primary hypothyroidism inneonates, pathogenesis is unclear.

Clinical features of hypothyroidismare discussed in Chap. 23, GrowthDeficiency: Weight and Height.

Low thyroxine (T₄)and high TSH serum levels confirm diagnosis.

Jaundice resolves with proper treatmentof hypothyroidism.

Lucey-Driscoll Syndrome (Transient Familial Neonatal Hyperbilirubinemia)

Rare disorderthat occurs during first few days of life.

In many cases, kernicterus developsunless exchange transfusions are performed. Serum bilirubin levelcan reach ≥60 mg/dL in untreated infants.

Unidentified inhibitor of uridine diphosphateglucuronyl transferase has been found in maternal and infant serum.

Inhibitory effect declines by about2 wks of age.

Crigler-Najjar Syndrome (Types I and II)

Autosomal-recessivedisorder that is caused by deficiency in enzyme activity of uridinediphosphate glucuronyl transferase, whose gene locus has been mappedto chromosome 2q37. Because of severe decrease in enzyme activityin type I, severe jaundice occurs.

Hyperbilirubinemia is milder in typeII because of less severe decrease in enzyme activity. Distinguishingcharacteristic is decrease in serum bilirubin seen in type II afteradministration of phenobarbital compared to no response in typeI.

Liver biopsy with enzyme assay is confirmatory.

Increased Enteropathic Circulation

In addition to causes discussed below, unconjugatedhyperbilirubinemia due to increased enteropathic circulation canhave physiologic causes.

Breast-Feeding–Related Jaundice

When itoccurs as early as 2–4 days of age, it is called breast-feeding–associatedjaundice. When it occurs later (4–7 days of age), it hasbeen called breast milk jaundice syndrome. Overlap occurs betweenthese 2 entities, and evidence to support 2 distinct conditionsis meager.

Mechanisms thought to explain jaundiceassociated with breast-feeding are decreased caloric intake andincrease in enterohepatic circulation of bilirubin.

Evidence for inhibitory substancesin breast milk is conflicting.

Intestinal Obstruction

Contributesto delay in bowel transit time that allows more time for bilirubindeconjugation and reabsorption.

Unconjugated hyperbilirubinemia mayoccur with pyloric stenosis, duodenal or ileal atresia, Hirschsprungdisease, and meconium ileus.

Jaundice resolves with proper treatmentof the basic lesion.

Clinical Features and Diagnosis: Unconjugated Hyperbilirubinemia(Postneonatal Onset)

In addition to hemolytic anemia and Gilbertsyndrome, septicemia may cause unconjugated hyperbilirubinemia.

Increased Bilirubin Production

Hemolytic Anemia

Any hemolytic anemia may produce unconjugatedhyperbilirubinemia. See Chap.45, Pallor (Anemia).

Decreased Bilirubin Uptake, Storage, or Metabolism

Gilbert Syndrome

Onset ofthis disorder, which may be transmitted as autosomal-dominant or-recessive trait, is generally in childhood or adolescence.

Uridine diphosphate glucuronyl transferaseactivity is <50% of normal, which results in mild,fluctuating unconjugated hyperbilirubinemia. Illness, fasting, andstress can exacerbate jaundice. Remainder of liver function testsare normal and there is no hemolysis.

Administration of phenobarbital candecrease serum bilirubin level.

Diagnostic Approach: Unconjugated Hyperbilirubinemia

Most commoncauses of neonatal unconjugated hyperbilirubinemia are physiologic jaundiceand breast-feeding–related jaundice.

Diagnostic tests should be performedin

Neonateswho become clinically jaundiced during first 24 hrs of life

Term bottle-fed infants whose maximumserum bilirubin exceeds 12 mg/dL

Term breast-fed infants whose maximumserum bilirubin exceeds 15 mg/dL

Preterm infants

Certain tests should be performed initially:

Maternal andinfant blood groups and Rh types

Unconjugated and conjugated serum bilirubin

CBC and differential

Reticulocyte count

Direct Coombs test

Analysis of blood smear

If jaundice persists, red cell G6PDactivity and T₄ and TSH levels should bedetermined.

If diagnosis remains uncertain, moreextensive studies for rarer forms of hemolytic disease and enzymeassay for uridine diphosphate glucuronyl transferase activity shouldbe considered. Tests for hepatocellular disease need to be performedonly when there is significant increase in conjugated bilirubin.

In infancy and childhood, most commoncause of unconjugated hyperbilirubinemia is hemolytic anemia [see Chap. 45, Pallor (Anemia)].

>

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Source: The Diagnostic Approach to Symptoms and Signs in Pediatrics, 2006

Jaundice [Icterus]: History and physical examination
(Nursing: Interpreting Signs and Symptoms)

Documenting a history of the patient's jaundice is critical in determining its cause. Begin by asking the patient when he first noticed the jaundice. Does he also have pruritus, clay-colored stools, or dark urine? Ask about past episodes or a family history of jaundice. Does he have nonspecific signs or symptoms, such as fatigue, a fever, or chills; GI signs or symptoms, such as anorexia, abdominal pain, nausea, weight loss, or vomiting; or cardiopulmonary symptoms, such as shortness of breath or palpitations? Ask about alcohol use and a history of cancer or liver or gallbladder disease. Has the patient lost weight recently? Also, obtain a drug history. Ask about a history of hepatitis, gallstones, or liver or pancreatic disease.

Perform the physical examination in a room with natural light. Make sure that the orange-yellow hue is jaundice and not due to hypercarotenemia, which is more prominent on the palms and soles and doesn't affect the sclera. Inspect the patient's skin for texture and dryness and for hyperpigmentation and xanthomas. Look for spider angiomas or petechiae, clubbed fingers, and gynecomastia. If the patient has heart failure, auscultate for arrhythmias, murmurs, and gallops as well as crackles and abnormal bowel sounds. Palpate the lymph nodes for swelling and the abdomen for tenderness, pain, and swelling. Palpate and percuss the liver and spleen for enlargement, and test for ascites with the shifting dullness and fluid wave techniques. Obtain baseline data on the patient's mental status: Slight changes in sensorium may be an early sign of deteriorating hepatic function.

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Source: Nursing: Interpreting Signs and Symptoms, 2007

JAUNDICE: Approach to the Diagnosis
(Differential Diagnosis in Primary Care)

The accurate diagnosis of jaundice is established by the association of other symptoms and the performance of liver function and special diagnostic procedures. For example, jaundice with fever, a prodromal phase of anorexia, malaise, and a tender liver suggests hepatitis. Jaundice with itching suggests xanthomatous or primary biliary cirrhosis. Jaundice and anemia suggest hemolytic anemia. Jaundice, back pain, and an abdominal mass suggest a carcinoma of the pancreas. When liver functions show only an elevated indirect bilirubin level, Gilbert disease or hemolytic anemia is suggested. A normal urine urobilinogen will make Gilbert disease even more likely. Liver function analyses showing only elevated bilirubin and alkaline phosphatase levels suggest bile duct obstruction by a stone or tumor. Liver function results showing an impressive elevation of the bilirubin, serum aspartate aminotransferase, and serum alanine aminotransferase levels suggest hepatitis. In cases in which obstruction versus parenchymal disease remains a dilemma after routine tests, several newer procedures have been developed that may help avoid an exploratory laparotomy. Endoscopic retrograde cholangiopancreatography (ERCP), cutaneous transhepatic cholangiography, and peritoneoscopy are very useful in these cases. Computed tomography (CT) scans and ultrasonography are also valuable. The old steroid whitewash is still useful. This is done by administering 20 mg of prednisone daily for 5 days and monitoring the bilirubin level. A positive test, indicating parenchymal diseases, is considered a drop of the bilirubin to one half its original value or more. Exploratory laparotomy may be necessary despite an extensive workup.

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Source: Differential Diagnosis in Primary Care, 2007

Jaundice - Case 15-4: 6-Week-Old Girl: I. History of Present Illness
(Pediatric Complaints and Diagnostic Dilemmas)

II. Past Medical History

III. Physical Examination

IV. Diagnostic Studies

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Source: Pediatric Complaints and Diagnostic Dilemmas, 2003

Jaundice - Case 15-6: 5-Week-Old Girl: I. History of Present Illness
(Pediatric Complaints and Diagnostic Dilemmas)

II. Past Medical History

III. Physical Examination

IV. Initial Diagnostic Studies

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Source: Pediatric Complaints and Diagnostic Dilemmas, 2003

Jaundice: Jaundice - DIAGNOSIS
(The 5-Minute Pediatric Consult)

Approach to the patient:

• Step 1: Determine if the hyperbilirubinemia is unconjugated or conjugated.
• Step 2: If unconjugated hyperbilirubinemia:
  • Obtain CBC and indices.
  • Reticulocyte count
  • Coombs test: If Coombs test is positive, the diagnosis is isoimmune; if Coombs test is negative, then consider polycythemia, extravascular bleed, or RBC structural or enzyme defects.
• Step 3: If conjugated hyperbilirubinemia:
  • Alanine aminotransferase (ALT), aspartate aminotransferase (AST), γ-glutamyltranspeptidase (GGT)
  • PT/PTT/International normalized ratio
  • Ultrasound of the liver/pancreas/gallbladder and biliary tree
  • Rule out those etiologies of conjugated hyperbilirubinemia that may adversely affect the outcome if diagnosis is delayed (biliary atresia, tyrosinemia, galactosemia, inborn error of bile acid synthesis, hereditary fructose intolerance, panhypopituitarism).

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Source: The 5-Minute Pediatric Consult, 2008

 » Next page: Signs of Neonatal Jaundice

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