Transcript Hepatomagaly in children - Prof. Dr. Cengiz Canpolat

Hepatomagaly in children
Prof. Dr. Cengiz Canpolat
Department of Pediatrics
Division of Pediatric HematologyOncology
Liver
The liver is an important organ located in the upper right quadrant of
the abdomen. It is responsible for:
• Filtering the blood
• Making bile, a substance that helps digest fat and excrete certain fatty
substances
• Processing and hooking fats to carriers (including cholesterol), and storing
sugars, helping the body transport and save energy
• Making important proteins, such as most of those involved in blood
clotting
• Metabolizing many medications, such as barbiturates, sedatives, and
amphetamines
• Storing iron, copper, vitamins A and D, and several of the B vitamins
• Making important proteins like albumin that regulate fluid transport in
the blood and kidneys
• Helping break down and recycle red blood cells
Hepatomagaly in children
• Liver size may be estimated by degree of
extension of liver edge below right costal margin
or by span of liver dullness to percussion
• In children liver edge may be normally palpable
up to 2 cm below right costal margin. However,
this assessment of liver size may be unreliable if
other non-hepatic factors (e.g.,lung disease) push
diaphragm lower and thus the liver below the
costal margin
Hepatomagaly in children
• Liver span is a more reliable measurement of
liver size. It is the distance determined by
percussion between upper margin of liver
dullness and its lower edge. Span of 5–7cm is
normal in infants and children, whereas 8–10
cm is normal in adolescents
Hepatomagaly in children
Signs and symptoms of enlarged liver:
• Tenderness. If the liver enlarges quickly, it may
be tender to the touch
• Pain. A markedly enlarged liver may cause
abdominal pain or fullness
• Jaundice. If the cause of enlargement affects
liver function, it may lead to yellowing of the
skin (jaundice)
Principle causes of hepatomagaly
• Infection/inflammation
1-Hepatitis
• Viral (TORCH)
• Bacterial (septicemia, endocarditis, brucellosis,leptospirosis,
cat scratch disease, tuberculosis, and liver abscess)
• Other infections :Rickettsial (Rocky Mountain spotted
fever),fungal (histoplasmosis, coccidioidomycosis), and
parasitic (malaria,amebiasis, toxoplasmosis, ascariasis,
schistosomiasis, toxocariasis)
(
• Toxic , drug high doses of vitamins like A and D, prolonged use of
acetaminophen, certain antibiotics, steroids
• Autoimmune
2-Cholangitis (biliary obstruction)
)
Principle causes of hepatomagaly
•
•
•
•
Hemolytic anemia (HS, SCD, Thalassemia)
Cardiac disorders (right-sided CHF)
Trauma
Bile duct obstruction
– Biliary atresia
– Caroli disease
Principle causes of hepatomagaly
• Vascular disorders
– Budd-Chiari syndrome
– Venoocclusive disease
• Neoplasia (leukemia, lymphoma, metastatic cancer,
hepatoblastoma, HCC)
• Metabolic disorders
– Disordersof carbohydrate metabolism
• Galactosemia
• Hereditary fructose intolerance
• Glycogen storage disease
–
–
–
–
Glycogenstorage disease type I
Glycogen storage disease type III
Glycogen storage disease type IV
Glycogen storage disease type VI
Principle causes of hepatomagaly
– Disorders of amino acid metabolism
• Tyrosinemia
• Urea cycle defects
– Disorders of lysosomal storage
• Mucopolysaccharidoses
• Lipidoses
–
–
–
–
Gaucher disease (Types I, II, III)
Nieman-Pick disease (Types A, B, C)
GM-1 gangliosidosis
GM-2 gangliosidosis (Sandhoff disease)
• Glycoprotein disorders
– Fucosidosis(Types I, II)
– Sialidosis type II
• Wolman disease and cholesterol esterdisease
Principle causes of hepatomagaly
– Disorders of fatty acid oxidation
– Disorders of bile acid synthesis and transport
– Alpha1-antitrypsin deficiency (a genetic liver disease
in children that can lead to hepatitis and cirrhosis of
the liver )
– Wilson disease (an inherited condition that causes a
build up of the mineral copper in the liver )
– Reye syndrome (a condition that causes a build up of
fat in the liver, linked in some cases to use of aspirin,
especially in conjunction with chickenpox, influenza,
or other illnesses with fever)
– Zellweger syndrome
Principle causes of hepatomagaly
• Systemic disorders
– Obesity (fat accumulation in liver Serum bilirubin is usually
normal, whereas serum aminotransferases and alkaline
phosphatase may be increased)
– Diabetes mellitus ( fat accumulation or increased glycogen
stores)
– Cystic fibrosis ( fat accumulation, focaland multilobular biliary
cirrhosis, portal hypertension, and cholelithiasis)
– Malnutrition (fat accumulation)
– Connective tissue diseases (SLE, JRA)
– Histiocytoses
– Total parenteral nutrition (cholestasis is main response in
infants, whereas older children develop fat accumulation and
hepatitis)
Clinical presentation
• Hepatomegaly can occur as isolated finding
with or without splenomegaly, with jaundice,
with significant increase in serum
aminotransferases, in association with
systemic disorders, with persistent vomiting
and altered consciousness, or with progressive
neurologic deterioration
Approach to the diagnosis
• Shortness of breath, pitting edema, and
hepatomegaly suggest CHF
• Chronic cough, wheezing, jugular vein
distention, hepatomegaly, and pitting edema
suggest pulmonary emphysema and cor
pulmonale
• Fever, tender hepatomegaly, and jaundice
suggest viral hepatitis or cholangitis
• Hepatomagaly and ascites suggest cirrhosis
Approach to the diagnosis
• History
–Abdominal pain, fever, melena, weight loss,
medications, age at onset, diarrhea, vomiting,
hematemesis, bleeding, bruising, fatigue
–Exposure to blood products
–Nutrition history (neonatal formula)
–Travel history to endemic infectious areas
–Family history of liver disease, hemolytic anemia,
maternal HBV, HCV
-delayed development -carbohydrate/lipid storage
diseases
-difficulty in feeding, dyspnea-cardiac disorders
-fever- Malaria, Kala-azar, TB, malignancy
Approach to the diagnosis
• Age at onsetAppearance in neonatal period:
-congestive heart failure (right sided)
-intrauterine infections and neonatal hepatitis
-isoimmunization disorders
-hemolytic anaemias
-congenital syphilis
-Maternal diabetes
-Biliary atresia
-antitrypsin deficiency
Approach to the diagnosis
• Appearance in infancy with prominent
systemic findings;
-Beta-thalassemia major
-Sickle cell disease
-Glycogen storage diseases
-Mucopolysaccharidosis
Approach to the diagnosis
• Appearance in first decade without apparent
chronic illness;
-Iron deficiency
-Hepatoblastoma
-Homocystinuria
-Congenital lipodystrophy
-Type I Hyperlipoproteinemia.
Approach to the diagnosis
• Appearance in 1st decade with apparent illness;
-Hemolytic anaemias
-Indian childhood cirrhosis (preschool age group)
-Chediak - Higashi syndrome
-Chronic granulomatous disease
-Metastatic tumours
Approach to the diagnosis
• Appearance at any age, relatively asymptomatic;
-Cirrhosis
-Ascariasis (migration into the liver)
-Inflammatory bowel disease
-Polycystic disease of liver
-Hepatic tumours
-Hydatid disease?
Approach to the diagnosis
• Appearance at any age, 'sick' child:
-Malaria,
-Sepsis,
-Enteric fever,
-Hepatitis, Congestive cardiac failure, Tuberculosis, Kwashiorkor,
leukaemia & lymphoma
-Liver abscess - amoebic & bacterial
-Juvenile RA & SLE
-Drugs & toxins - Phenobarbitone,acetaminophen, sulfonamides,
tetracyclines,steroids, etc.
-Alpha 1- antitrypsin deficiency
-Wilson's disease
Approach to the diagnosis
• Physical exam
–Height, weight
–Liver size, margin, firmness, nodularity,
tenderness
–Ascites, jaundice/scleral icterus
–Cataracts; Kayser-Fleischer rings (Wilson)
–Cardiac exam for murmurs; splenomegaly;
tone and strength development;
hemangiomas/xanthomas
Approach to the diagnosis
• General examination :
-Pallor - Malaria, hemolytic anaemia, hematological
malignancy
-Petechia, purpura, ecchymosis, lymphadenopathy Leukemia
-Jaundice - intrauterine infections, septicemia,
neonatal hepatitis, viral hepatitis, biliary atresia
-Spider nevi, icterus, flaps - Hepatic failure
-features of PEM - Kwashiorkor
Approach to the diagnosis
-Microcephaly - Intrauterine infections
(Toxoplasmosis, CMV)
-Mental retardation - Mucopolysaccharoidosis,
galactosemia
-Eyes - Cataract in galactosemia, Kayser - Fleischer
ring over the cornea in Wilson's disease
-Hazy cornea - Mucopolysaccharoidosis
-Skin rash - Histiocytosis
-Skeletal changes of rickets - Cystinosis & tyrosinosis
Approach to the diagnosis
• Labs
–CBC, ALT, AST, fractionated bilirubin, alkaline
phosphatase, total protein, albumin, globulin
fraction, U/A
–Hepatitis serologies, EBV, TORCH titers, plasma
amino acids/urine organic acids for metabolic
disease
–Serum A1AT with protease inhibitor typing
–Ceruloplasmin (decreased in Wilson disease)
–ANA/anti-smooth muscle antibody/anti-liver
kidney microsomal antibody, IgG for autoimmune
hepatitis
Approach to the diagnosis
• Febrile agglutinins (typhoid fever, brucellosis)
• Monospot test (infectious mononucleosis)
• Serum iron and iron-binding capacity
(hemochromatosis)
• Stool for occult blood (metastatic malignancy)
• Stool for ova and parasites (amebic abscess,
cysticercosis and other parasites)
• Bone marrow examination (hemolytic
anemias, leukemia, myeloid metaplasia)
Approach to the diagnosis
• GI series and barium enema (metastatic
neoplasm)
• Sonogram (hepatic cyst, gallstones, abscess)
• Laparoscopy (cirrhosis, metastatic neoplasm)
• Liver biopsy (cirrhosis, hepatitis, metastatic
carcinoma)
• Serum α-fetoprotein (hepatoma)
• Mitochondrial antibody titer (biliary cirrhosis)
Thank you for your attention