Splenomegaly

Question 1

What are the causes of massive (>8cm) splenomegaly? (7, in 3 categories)

These can also be the causes of moderate and mild before they become massive

Answer 1

1. Myeloproliferative
   - Chronic Myeloid Leukaemia
   - Myelofibrosis
   - Polycythemia
2. Tropical infection
   - Chronic Malaria
   - Visceral leischmaniasis (kala-azar)
3. Splenic marginal zone lymphoma

Question 2

What are the causes of moderate (4-8cm) splenomegaly? (5)

Answer 2

1. Gaucher’s
2. Amyloid
3. Lymphoma - enlarged lymph nodes
4. Leukaemia
5. Felty’s - signs of RA

Question 3

What are the causes of mild (<4cm) splenomegaly? (3)

Answer 3

1. Portal hypertension - look for signs of CLD
2. Infections e.g. EBV, IE, Hepatitis - look for splinter haemorrhages, murmur
3. Haemolytic anaemia

Question 4

What are the investigations for splenomegaly? (7)

Answer 4

1. Ultrasound abdomen
2. Haematological causes:
   - FBC
   - Blood film
   - Bone marrow aspirate and trephine
   - Lymph node biopsy
3. Infections
   - Thick and thin films for malaria
   - Viral serology

Question 5

What are the indications for splenectomy? (4)

Answer 5

1. Haemorrhage/rupture (trauma)
2. Signficiant transfusion requirements in haemlytic disorders
3. Signficiant syptoms
4. Leucopenia or thrombocytopenia due to hypersplenism

Question 6

What are the complications of splenectomy? (2)

Answer 6

1. Thrombocytosis
2. Overwhelming sepsis from encapsulated orfanism

Question 7

How are splenectomy patients managed to prevent complication? (3)

Answer 7

1. Vaccination against encapsulated bacteria
   - Pneumococcal
   - Meningococcus
   - H. Influenzae
2. Prophylactic lifelong penicllin
3. Medical alert bracelet

Question 8

What are the clinical features of splenomegaly?

Answer 8

1. Signs of anaemia
2. Lymphadenopathy
3. Purpura
4. Left upper quadrant mass - estimate size
5. Check for hepatomegaly

Question 9

What is the genetic cause for hereditary spherocytosis?

Answer 9

Autosomal Dominant defect of 1 of 5 possible genes, usually chromosome 8

Codes for RBC membrane proteins causing sphere shaped red blood cells which are more prone to haemolysis

Question 10

What are the clinical features of hereditary spherocytosis? (3)

Answer 10

1. Anaemia (lethargy)
2. Jaundice
3. Splenomegaly

Question 11

What are the complications of hereditary spherocytosis? (3)

Answer 11

1. Anaemia
2. Gallstones
3. Aplastic crisis due to infection

Question 12

What investigations should be done in hereditary spherocytosis? (7)

Answer 12

1. FBC
   - Hb
   - MCH
   - Reticulocyte count
2. Blood film
   - Haemolysis
   - Spherocytes
3. LDH (raised)
4. Haptoglobins (low)
5. Unconjugated bilirubin
6. EMA binding test
7. Osmotic fragility test

Question 13

What is the management for hereditary spherocytosis?

Answer 13

1. Folic acid
2. Transfusions for anaemia
3. Splenectomy - eleminates haemolysis
   - Vaccines and prophylactic antibiotics

Question 14

What are the causes of hepatosplenomegaly?

Answer 14

1. Myeloproliferative
2. Lymphoproliferative
3. Cirrhosis with portal HTN
4. CLL
5. Lymphoma

Question 15

What are the other (than splenomegaly) features of polycythemia rubra vera?

Answer 15

1. Facial plethora
2. Dusky cyanosis of the extremities

Question 16

What is polycythemia?

Answer 16

Over activity of bone marrow - raised red cell count, keeps making red cells until the iron runs out so also has an iron deficiency picture

JAK2 mutation

Question 17

What are the investigations for polycythemia?

Answer 17

1. FBC
2. Iron studies
3. JAK2 mutation genetic testing

Question 18

What are the causes of secondary polycythemia?

Answer 18

1. Chronic hypoxia e.g. COPD, Pickwickian
2. Smokers
3. Cobalt poisoning
4. Inappropriate EPO e.g. certain cancers - renal