Management of Hereditary Spherocytosis
Splenectomy is the definitive treatment for moderate to severe hereditary spherocytosis, with total splenectomy recommended for adults and subtotal splenectomy being a viable option for young children to preserve immune function while reducing hemolysis. 1, 2
Diagnosis and Initial Assessment
- Hereditary spherocytosis is diagnosed based on clinical presentation, family history, complete blood count showing anemia, increased reticulocyte count, elevated indirect bilirubin, and specific tests such as EMA (eosin-5-maleimide binding) test and AGLT (Acidified Glycerol Lysis Time) 2
- Clinical manifestations range from asymptomatic to severe forms requiring transfusions in early childhood 2
- Severity assessment should include evaluation of hemoglobin levels, reticulocyte count, bilirubin levels, and presence of splenomegaly 1
Treatment Approach Based on Disease Severity
Mild Disease
- Observation and monitoring without surgical intervention 2
- Folic acid supplementation to support increased erythropoiesis 2
- Iron supplementation if iron deficiency is present 1
Moderate to Severe Disease
- Indications for surgical intervention include:
Surgical Management Options
Total Splenectomy
- Remains the standard treatment for adults with moderate to severe hereditary spherocytosis 1, 2
- Can be performed via open or laparoscopic approach, with laparoscopic approach showing fewer complications 1
- Results in complete resolution of hemolysis and anemia 3
- Long-term follow-up shows good results with few complications 1
Subtotal Splenectomy
- Removes 85-90% of the enlarged spleen while preserving immune function 4
- Particularly beneficial for young children to reduce the risk of overwhelming post-splenectomy infection 3, 5
- Can be performed laparoscopically with preservation of either the upper or lower pole of the spleen, with lower pole preservation offering better intraoperative evaluation of splenic remnant volume 4
- Long-term studies show sustained decrease in hemolytic rate while maintaining phagocytic function 5
- Median time to secondary total splenectomy (if needed) is approximately 5.2 years 3
- Monitoring of reticulocyte levels is important, as increased levels within 2 years may indicate hematologic recurrence requiring secondary splenectomy 3
Preoperative Management
- Vaccination against encapsulated organisms is mandatory at least 2 weeks before elective splenectomy 6
- Required vaccines include:
- Pneumococcal vaccines
- Haemophilus influenzae type b vaccine
- Meningococcal vaccines 6
Concomitant Procedures
- Cholecystectomy should be performed during the same operation if cholelithiasis is present 1
- In a study, cholecystectomy was performed concurrently with splenectomy in approximately 37% of patients 1
Postoperative Care and Long-term Management
- Regular follow-up to monitor for hematologic parameters 3
- For patients with subtotal splenectomy, monitoring for potential regrowth of the splenic remnant, though this doesn't appear to significantly impact outcomes 5
- Awareness of potential complications:
Special Considerations for Splenic Sequestration
- In cases of splenic sequestration crisis, careful management with red blood cell transfusions is essential 7
- Avoid acute overtransfusion to a hemoglobin greater than 10 g/dL 7, 6
- Surgical splenectomy may be recommended after recovery from life-threatening or recurrent episodes 6
Outcomes
- Total splenectomy: complete resolution of anemia and reduction of transfusion requirements 1, 2
- Subtotal splenectomy: decreased hemolytic rate while preserving splenic immune function for approximately 5 years 3, 5
- Approximately 58% of patients with subtotal splenectomy maintain a functional splenic remnant for at least 5 years without requiring secondary splenectomy 3