Splenomegaly

Physical examination

General Examination:

• Paleness or jaundice may suggest underlying hemolytic anaemia.

• Clubbing of fingers could indicate associated conditions like cirrhosis or endocarditis.

• Dupuytren's contracture, spider naevi, and palmar erythema may suggest liver disease.

• Lymphadenopathy, if present, may point towards malignancies such as lymphoma.

• Signs of endocarditis such as Osler's nodes, Janeway lesions, Roth spots, or splinter haemorrhages, if present, may suggest an infective cause.

• Malar bone prominence, depressed nasal bridge, and malocclusion of teeth may suggest thalassaemia syndromes

Inspection:

• The abdomen may appear distended or asymmetric.

• There may be visible dilated veins, caput medusae or scars indicative of previous surgery.

Palpation:

• Palpation of the abdomen may reveal a large, non-tender mass that could be the enlarged spleen.

• The spleen typically enlarges towards the right iliac fossa.

• The edge is typically smooth, and the tip is palpable. The spleen may also be 'dull' to a slap.

• Ascites or hepatomegaly may coexist, especially in the context of liver disease.

Percussion:

• Percussion of Traube's space (left upper quadrant) may show dullness due to the spleen occupying this area.

• If present, ascites may cause shifting dullness or fluid thrill on percussion.

Auscultation:

• Splenic rub

Additional Examination:

• Examination of other systems as relevant to the suspected underlying cause, e.g., careful lymph node examination in suspected haematological malignancy or a cardiac exam in suspected endocarditis.

• If relevant, a rectal examination for evidence of GI bleeding, melaena.

Investigations

Laboratory Investigations:

• Full Blood Count with blood film examination: to identify any abnormalities like anaemia, leukopenia, or thrombocytopenia, which could suggest hypersplenism, haematological malignancies, or liver disease.

• Liver Function Tests: to detect any evidence of liver disease which could cause congestive splenomegaly.

• Renal Function Tests: to rule out renal disease.

• Viral Serology: testing for Hepatitis B, Hepatitis C, HIV, Epstein-Barr virus, and other infections that could cause splenomegaly.

• Malarial Parasites: If the patient has a relevant travel history or resides in an endemic area.

• Immunoglobulins: Elevated levels may suggest a lymphoproliferative disorder.

• Autoimmune Screen: Antinuclear antibodies (ANA), rheumatoid factor, anti-double-stranded DNA can identify autoimmune conditions.

Imaging:

• Ultrasound Abdomen: This is a non-invasive way of confirming splenomegaly and assessing the liver and other abdominal organs.

• CT/MRI Abdomen: These provide more detailed imaging, useful if malignancy is suspected or if the ultrasound findings are unclear.

• Chest X-ray: If there's suspicion of a systemic disease such as tuberculosis or lymphoma.

Invasive Investigations:

• Bone Marrow Biopsy: Useful in diagnosing haematological conditions like leukaemia or myelofibrosis.

• Liver Biopsy: If liver disease is suspected and non-invasive tests are inconclusive.

• Endoscopy: If gastrointestinal diseases are suspected.

• Paracentesis: If ascites is present and the cause needs to be identified.

Other Tests:

• Echocardiogram: If cardiac causes of splenomegaly (e.g., congestive heart failure) are suspected.

• Blood Cultures: If infectious causes (e.g., endocarditis) are suspected.

• Tuberculin Skin Test or Interferon Gamma Release Assay: If tuberculosis is suspected.

• Cytogenetic analysis and immunophenotyping

Causes of splenomegaly

Massive splenomegaly

• Haematological malignancy: CML, lymphoma

• Myelofibrosis

• Chronic malaria

• Kala-azar (visceral leishmaniasis)

• Chronic haemolytic anaemia eg Thalassaemia major

• AIDS with MAC

Moderate splenomegaly

• Leukaemia

• Lymphoma

• Thalassaemia

• Portal hypertension: portal vein thrombosis, splenic vein thrombosis

• Glycogen storage diseases

Mild splenomegaly

• Infective endocarditis

• Autoimmune diseases eg SLE, RA

• Polycythaemia rubra vera

• Amylodosis

Causes of Splenomegaly with Pallor

Haematological Conditions:

• Chronic Myeloid Leukaemia (CML)

• Myelofibrosis

• Lymphomas: Hodgkin's and Non-Hodgkin's lymphoma

• Haemolytic Anaemias: Sickle Cell Disease, Thalassemia, Autoimmune Haemolytic Anaemia

• Hereditary Spherocytosis

Infections:

• Infective Endocarditis

• Malaria

• Visceral Leishmaniasis (Kala-azar)

Other Causes:

• Gaucher's Disease

• Felty's Syndrome

• Autoimmune Disorders

Causes of Splenomegaly with Jaundice

Liver Disease:

• Cirrhosis

• Budd-Chiari Syndrome: Hepatic vein thrombosis leading to congestion of the liver.

Haematological Conditions:

• Haemolytic Anaemias: hereditary spherocytosis, sickle cell disease, and thalassemia.

Infections:

• Malaria

• Leptospirosis

• Infectious Mononucleosis (Epstein-Barr virus)

• Metabolic/Storage Diseases

• Gilbert's Syndrome

• Niemann-Pick Disease, Type B or C

Other Causes:

• Sarcoidosis

• Amyloidosis

Causes of Hepatosplenomegaly

Infections:

• Viral: Infectious mononucleosis (Epstein-Barr virus), Cytomegalovirus, Hepatitis

• Bacterial: Tuberculosis, Syphilis, Brucellosis

• Parasitic: Malaria, Leishmaniasis, Schistosomiasis

Haematological and Lymphatic Disorders:

• Leukaemias: Chronic and acute types

• Lymphomas: Hodgkin's and non-Hodgkin's lymphoma

• Myeloproliferative disorders: Polycythemia vera, Essential thrombocytosis, Primary myelofibrosis

Liver Diseases:

• Cirrhosis: All causes

• Alcoholic Liver Disease

• Non-Alcoholic Fatty Liver Disease (NAFLD)

• Congestive heart failure

Metabolic/Storage Diseases:

• Amyloidosis

• Hemochromatosis: Iron overload disorder

• Wilson's Disease: Copper metabolism disorder

• Gaucher's Disease

• Niemann-Pick Disease

Malignancies:

• Metastatic cancers: Breast, lung, stomach, colon, and pancreas

Others:

• Sarcoidosis

• Systemic Lupus Erythematosus (SLE)

Causes of Massive Splenomegaly

• Chronic Myeloid Leukaemia (CML)

• Primary Myelofibrosis

• Gaucher's Disease

• Visceral Leishmaniasis (Kala-Azar)

• Chronic Malaria (Hyper-reactive malarial splenomegaly or Tropical splenomegaly syndrome)

• Chronic haemolytic anaemia in Thalassaemia major

Causes of Hyposplenism

• Splenectomy (surgical removal of the spleen)

• Sickle Cell Disease

• Celiac Disease

• Radiation therapy

• Congenital asplenia