25 year old female with hereditary spherocytosis
Abnormalities and causes of presentation include:
– Evidence of haemolysis – low Hb, high LDH, bilirubin, ALP
– Possible sepsis – identify source (Pneumonia, Cholecystitis – high ALP/bilirubin, Pyelonephritis etc), however note that the inflammatory markers are normal so acute haemolytic crises must be kept in mind
Clinical Features of HS:
Pallor
Jaundice
Splenomegaly
– Investigations in ED:
Mild to moderate anaemia
Blood film- spherocytes, increased reticulocytes, normocytic
Elevated bilirubin, LDH
Increased MCHC
Coomb’s test – is only positive in auto immune haemolytic anaemia
Osmotic fragility test is unreliable
Definitive Treatment:
– Splenectomy
Problems of Splenectomy:
– surgical risks
– Infections
Fatal sepsis caused by capsulated organisms (eg, Streptococcus pneumoniae, Haemophilus influenzae) is a recognized complication in children who have had a splenectomy. The estimated rate of mortality from sepsis in these children is approximately 200 times greater than that expected in the general population. Although most septic episodes have been observed in children whose spleens were removed in the first years of life, older children and adults also are susceptible.
Vaccination against pneumococcus and H influenzae must be administered to patients prior to splenectomy and, indeed, probably to all patients with severe HS. If a partial splenectomy is performed, splenic function is preserved and vaccinations may be delayed until after surgery; however, the long-term data are not well established.
– Vascular events
thromboembolism
vasospasm
Atherosclerosis
Pulmonary hypertension
Complications related to HS:
- Haemolytic crises
- Non haemolytic crises – folate deficiency, aplastic anaemia
- Pigment type Cholelithiasis
- No increase rate of rupture from trauma, increase infection risk post
- Parvovirus infection
Rapid haemolysis can be triggered by viral and bacterial infections causing jaundice. anaemia and tender splenomegaly
Aplastic crises due to viral induced bone marrow suppression
Megaloblastic crises are rare but can occur due to folate deficiency. Patients require folate supplementation due to increased erythropoiesis.