Paediatrics chapters
Approach to the child with hepatosplenomegaly
How to decide whether a palpable liver or spleen is truly enlarged, the causes at different ages (infection, blood disorders, storage diseases, congestion, malignancy), the clinical clues, the tests and when to refer.
- A spleen must enlarge to 2 to 3 times normal before it can be felt, but a soft spleen tip is normal in many newborns and young infants, and a liver edge up to about 2 cm below the costal margin is normal in infants; confirm true enlargement by span and texture, not just the edge.
- Causes fall into infection (commonest: viral, typhoid, malaria, kala-azar, TB), haemolysis/haematological (thalassaemia, sickle cell), malignancy (ALL, lymphoma, neuroblastoma), congestion (heart failure, portal hypertension), storage/metabolic (glycogen storage, Gaucher, Wilson) and inflammation (JIA, SLE, hepatitis).
- Start with CBC, peripheral film, reticulocytes, LFTs, ultrasound and targeted tests (malaria film, rK39, Hb electrophoresis, viral serology, marrow); refer urgently for cytopenias, massive spleen, liver failure or suspected malignancy.
On this page
Overview
Hepatosplenomegaly (HSM) is a sign, not a diagnosis. In Pakistan the usual causes are infections (typhoid, malaria, kala-azar, viral hepatitis, TB), thalassaemia and leukaemia, with storage and metabolic diseases in younger children. A careful history, examination and a few first-line tests usually point to the cause, and also tell you who needs urgent referral.
Is it really enlarged?
Spleen (Akbar)
- The spleen must reach 2 to 3 times its normal size before it is palpable below the left costal margin.
- A soft spleen tip (1 to 2 cm) is felt in about 30% of term newborns and 15% of infants under 6 months; a spleen under 1 cm is felt in about 1% of older children.
- A spleen is identified by its notch, movement downward and medially with breathing, inability to get above it, and dullness to percussion.
Liver
- In newborns and infants the liver edge is often palpable about 2 cm below the right costal margin (Nelson).
- A low liver edge may be pushed down, not enlarged, for example by hyperinflated lungs in bronchiolitis or asthma. Measure the liver span by percussing the upper border and palpating the lower edge.
- Note size, consistency (soft, firm, hard), surface, tenderness, and any bruit.
A palpable liver in a wheezy infant is often displaced by hyperinflation. Percuss the upper border before calling it hepatomegaly.
Mechanisms
| Mechanism | Examples |
|---|---|
| Immune hyperplasia (antigenic stimulation) | Viral (EBV, CMV), bacterial (typhoid, endocarditis, septicaemia), protozoal (malaria, kala-azar, toxoplasmosis), TB |
| Red cell destruction / haemolysis | Thalassaemia, hereditary spherocytosis, sickle cell disease (early), autoimmune haemolysis |
| Extramedullary haematopoiesis | Thalassaemia major, osteopetrosis |
| Infiltration: malignant | Acute leukaemia, lymphoma, neuroblastoma, Langerhans cell histiocytosis |
| Infiltration: storage | Glycogen storage disease, Gaucher, Niemann-Pick, mucopolysaccharidoses |
| Congestion | Congestive heart failure, portal hypertension, Budd-Chiari syndrome, constrictive pericarditis |
| Inflammation of liver | Viral hepatitis, autoimmune hepatitis, drugs, Wilson disease |
| Immune/rheumatic | Systemic JIA, SLE |
Infection is the commonest cause of splenomegaly in children (Akbar). About half of children with ALL have splenomegaly.
Causes by age
| Age | Important causes |
|---|---|
| Newborn | Congenital infections (TORCH: CMV, rubella, toxoplasma, syphilis, herpes), haemolytic disease of the newborn (Rh, ABO), neonatal sepsis, congenital heart failure, neonatal hepatitis, biliary atresia, galactosaemia |
| Infant | Infections, thalassaemia major (from about 6 months), storage diseases (glycogen storage, Gaucher, Niemann-Pick, MPS), heart failure, leukaemia, metabolic disease |
| Older child | Typhoid, malaria, kala-azar, viral hepatitis, EBV (infectious mononucleosis), TB, ALL/lymphoma, thalassaemia, chronic liver disease and portal hypertension, Wilson disease, autoimmune hepatitis, JIA, SLE |
Clinical approach
History
- Age and onset; fever pattern and duration; travel to or residence in kala-azar or malaria areas
- Pallor, need for repeated transfusions (thalassaemia), family history, consanguinity (storage diseases, thalassaemia, Wilson)
- Jaundice, dark urine, pale stools (liver disease, haemolysis)
- Bleeding, bruising, bone pain (leukaemia)
- Haematemesis or melena (portal hypertension, varices)
- Developmental delay or regression, seizures (storage diseases)
- Hypoglycaemic episodes (glycogen storage disease)
- Drugs, contact with TB, past umbilical catheterisation or neonatal sepsis (portal vein thrombosis)
Examination clues
| Finding | Think of |
|---|---|
| Pallor, jaundice, frontal bossing, maxillary hyperplasia, massive spleen | Thalassaemia major |
| Pallor, petechiae, bone tenderness, lymph nodes | Acute leukaemia |
| Fever, severe wasting, massive spleen, pancytopenia, bleeding | Kala-azar |
| Fever, anaemia, spleen, periodic fever | Malaria |
| Prolonged fever, toxic child, soft spleen | Typhoid |
| Sore throat, generalised nodes, soft spleen | Infectious mononucleosis |
| Splenomegaly, no hepatomegaly, haematemesis | Extrahepatic portal hypertension |
| Firm shrunken or nodular liver, spider naevi, ascites | Cirrhosis |
| Huge liver, doll-like face, short stature, hypoglycaemia | Glycogen storage disease type I |
| Massive spleen, bone pain, developmental problems | Gaucher disease |
| Coarse facies, umbilical hernia, organomegaly | Mucopolysaccharidosis |
| Raised JVP, tachycardia, murmur, tender liver | Congestive heart failure |
| Kayser-Fleischer rings, tremor, liver disease over 3 years | Wilson disease |
| Rash, arthritis, serositis | Systemic JIA, SLE |
Massive splenomegaly
In our setting the main causes of a very large spleen are thalassaemia major, kala-azar, chronic malaria (tropical splenomegaly), storage disease (Gaucher) and portal hypertension.
Portal hypertension and hypersplenism
Portal hypertension (Akbar)
- Portal venous pressure above 10 to 12 mmHg (normal about 7 mmHg).
- Extrahepatic (prehepatic): portal vein thrombosis or cavernous transformation (for example after umbilical vein catheterisation or neonatal sepsis), portal vein atresia, splenic vein thrombosis.
- Intrahepatic: cirrhosis (viral hepatitis, Wilson disease, biliary atresia, cystic fibrosis), congenital hepatic fibrosis.
- Posthepatic: Budd-Chiari syndrome.
- Splenomegaly is the most constant sign; others are haematemesis and melena from oesophageal varices, and ascites (intrahepatic disease).
- In extrahepatic portal hypertension the liver is normal in size and function and liver tests are usually normal.
A child with haematemesis, a palpable spleen and no hepatomegaly most likely has extrahepatic portal vein obstruction.
Hypersplenism
Criteria (Akbar): splenomegaly, reduction of one or more blood cell lines, normal or increased marrow precursors, and expected correction by splenectomy. The commonest cause is venous (portal) obstruction.
Investigations
First-line
| Test | Looks for |
|---|---|
| CBC with peripheral film | Anaemia, cytopenias (hypersplenism, marrow failure), blasts, atypical lymphocytes, target cells, spherocytes, malaria parasites |
| Reticulocyte count | Haemolysis |
| LFTs (bilirubin, ALT, AST, ALP, albumin), PT/INR | Hepatitis, cholestasis, synthetic failure |
| Ultrasound abdomen with Doppler | Size, texture, focal lesions, nodes, portal vein flow and thrombosis, ascites |
| ESR/CRP, blood culture | Infection, inflammation |
Targeted tests
| Suspicion | Test |
|---|---|
| Thalassaemia | Hb electrophoresis (high HbF), red cell indices |
| Malaria | Thick and thin film, rapid antigen test |
| Kala-azar | Pancytopenia, high globulins; amastigotes in marrow or splenic aspirate (definitive) |
| Typhoid | Blood culture |
| Viral hepatitis, EBV, CMV | Serology (IgM anti-HAV, HBsAg, monospot, IgM CMV) |
| TORCH | TORCH serology in newborn |
| Leukaemia, storage disease | Bone marrow aspirate (blasts; Gaucher cells) |
| Glycogen storage disease | Fasting glucose, lactate, lipids, uric acid; enzyme or gene test |
| Wilson disease | Ceruloplasmin, 24-h urine copper, slit-lamp for KF rings |
| Autoimmune hepatitis | ANA, anti-smooth muscle, anti-LKM, IgG |
| Portal hypertension | Upper GI endoscopy for varices; Doppler |
| Heart failure | Chest X-ray, echocardiography |
| Uncertain liver disease | Liver biopsy |
Differential diagnosis: hepatomegaly versus visceromegaly
Not every right upper quadrant mass is liver. Consider:
- Displaced liver (hyperinflation, subphrenic collection)
- Right kidney mass (Wilms tumour, hydronephrosis): ballotable, bimanually palpable
- Neuroblastoma (crosses midline, may infiltrate liver)
- Choledochal cyst, liver abscess or hydatid cyst
- Left side: enlarged left kidney versus spleen (kidney is ballotable, has colonic resonance over it, no notch)
Management, follow-up and referral
- Treat the cause: antimalarials, antibiotics for typhoid, anti-leishmanial drugs for kala-azar, transfusion and chelation for thalassaemia, chemotherapy for leukaemia, decongestive therapy for heart failure, copper chelation for Wilson disease.
- Portal hypertension with bleeding: resuscitation, NG tube, endoscopic sclerotherapy or band ligation, octreotide; propranolol lowers the risk of re-bleeding; shunt or liver transplant in selected cases.
- Splenectomy only for specific indications (for example rising transfusion need in thalassaemia, symptomatic hypersplenism); afterwards the child needs protection against encapsulated bacteria (pneumococcal vaccine and penicillin prophylaxis; follow the haematology chapter).
Refer urgently
- Cytopenias, blasts, bone pain or bleeding (possible leukaemia)
- Liver failure: jaundice with prolonged PT, encephalopathy, hypoglycaemia
- Haematemesis or melena
- Massive or rapidly growing organs, abdominal mass
- Developmental regression with organomegaly (storage disease)
Expect: when a spleen tip is normal in infancy and how much enlargement is needed before it is palpable; infection as the commonest cause of splenomegaly; age-based causes (TORCH and haemolytic disease in newborns, storage disease and thalassaemia in infants, typhoid, malaria, kala-azar, leukaemia and portal hypertension in older children); splenomegaly with varices and no hepatomegaly meaning extrahepatic portal hypertension; hypersplenism criteria; massive splenomegaly causes; and the first-line tests (CBC, film, reticulocytes, LFTs, ultrasound).
Quick revision
- Spleen palpable only at 2 to 3 times normal size; tip normal in 30% of newborns.
- Liver edge up to about 2 cm normal in infants; percuss the upper border.
- Infection is the commonest cause of splenomegaly; half of ALL cases have a big spleen.
- Thalassaemia: extramedullary haematopoiesis and haemolysis.
- Massive spleen: thalassaemia, kala-azar, chronic malaria, Gaucher, portal hypertension.
- Spleen + varices + normal liver = extrahepatic portal hypertension.
- First tests: CBC, film, retics, LFTs, PT, ultrasound with Doppler.
- Refer urgently: cytopenias, liver failure, bleeding, regression.
Written by The House Job from standard references (Basis of Paediatrics by Pervez Akbar; Nelson Essentials of Paediatrics).
FAQ
Is a palpable spleen always abnormal in a baby?
No. A soft tip of 1 to 2 cm is felt in about a third of term newborns and some young infants; a firm or larger spleen needs investigation.
What is the commonest cause of splenomegaly in children?
Infection, including viral illness, typhoid, malaria and kala-azar.
Why is the liver normal in extrahepatic portal hypertension?
The block is in the portal vein before the liver, so liver tissue and function stay normal while the spleen enlarges and varices form.
Which single test helps most at the start?
A complete blood count with peripheral film, because it shows cytopenias, blasts, haemolysis and malaria parasites.