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08-11-2011 | General practice | Article

Researchers update hereditary spherocytosis guidelines


Free abstract

MedWire News: Updated guidelines published by the British Committee for Standards in Haematology (BCSH) recommend concomitant splenectomy at the time of cholecystectomy in children with mild hereditary spherocytosis (HS).

The guidelines, published in the British Journal of Haematology, also suggest that children undergoing splenectomy should receive concomitant cholecystectomy when asymptomatic gallstones are detected.

Secretary of the BCSH, Paula Bolton-Maggs (University of Manchester, UK), and co-authors of the guidelines explain that HS is a type of anemia in which red blood cells have a reduced surface-to-volume ratio as a result of a deficiency or dysfunction in the band 3, protein 4.2, ankyrin, and/or α and β spectrin proteins.

The resulting spherocytic red cells are osmotically fragile and are selectively trapped in and removed by the spleen, which consequently plays a pivotal role in the clinical features (eg, hemolysis and splenomegaly) of the disease.

The guidelines replace those published in 2004 and reflect significant changes in evidence on the best approach for surgical management of the condition.

A literature review confirmed the previous guidelines in terms of diagnostic testing: diagnosis of HS should be based upon a combination of clinical history, family history, physical examination (splenomegaly, jaundice), and laboratory data (full blood count, morphology, and reticulocyte count).

Furthermore, newly diagnosed patients with a family history of HS, typical clinical features (splenomegaly), and positive laboratory investigations (spherocytes, raised mean corpuscular hemoglobin concentration, increase in reticulocytes) do not require any additional tests.

If the diagnosis is equivocal, a screening test with a high predictive value for HS - such as cryohaemolysis and eosin-5-maleimide binding - is helpful, according to the updated guidelines. In atypical cases, gel electrophoresis analysis of erythrocyte membranes should be the method of choice.

Regarding surgery, splenectomy should be performed in children with severe HS, considered in those who have moderate disease, and should probably not be performed in those with mild disease, state the authors.

"Patients should be selected for splenectomy on the basis of their clinical symptoms and presence of complications such as gallstones, not simply on the basis of the diagnosis alone," they add.

The guidelines recommend that splenectomy be performed laparoscopically where possible. Partial splenectomy may be beneficial in terms of reduced risk for post-splenectomy sepsis, but more data are required to confirm this.

When splenectomy is indicated, ideally it should be carried out after the age of 6 years, and patients and parents should be informed about the lifelong small risk for sepsis after the procedure, says the team.

The main revision to the guidelines is the recommendation that in children undergoing splenectomy, the gall bladder should be removed concomitantly if there are symptomatic gallstones. If stones are an incidental finding, the value of cholecystectomy remains controversial, and if the gallbladder is left in situ, close follow-up using ultrasound is necessary.

In children who require cholecystectomy for symptoms of gallstones, the use of concurrent splenectomy is also contentious because although it is associated with a decreased future risk for common bile duct stones, there is also an increased risk for postsplenectomy sepsis.

Bolton-Maggs and co-authors say that the indications for splenectomy are clearer in these updated guidelines.

"The final decision however, will rest on consultation between the family and clinician," they conclude.

By Laura Dean

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