Hereditary Disorders of Red Cell Permeability Treatment & Management

Updated: Jan 30, 2019
  • Author: Vikramjit S Kanwar, MBBS, MBA, MRCP(UK), FAAP; Chief Editor: Max J Coppes, MD, PhD, MBA  more...
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Treatment

Medical Care

Monitor patients with hemolytic anemia for complications of hemolysis, such as cholelithiasis. Acute infections may cause decreased erythropoiesis (eg, parvovirus) or episodes of hyperhemolysis; in either case, an exacerbation of anemia may result. These patients should also receive folate supplementation if they have significant ongoing hemolysis.

Neonates with overhydrated hereditary stomatocytosis (OHSt) or dehydrated hereditary stomatocytosis (DHSt) may require phototherapy, simple blood transfusions, and, occasionally, exchange transfusions for treatment of anemia and hyperbilirubinemia. Prenatal diagnosis with cordocentesis is feasible if a severe variant is suspected, although this is generally useful only if fetal complications are evident. [21]

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Surgical Care

Patients with hereditary stomatocytosis syndromes do not require splenectomy. The results of splenectomy vary, and the benefits are unpredictable. Patients with these disorders are at an increased risk of life-threatening thrombosis after splenectomy. Venous thromboemboli predominate, sometimes with complicating pulmonary or portal hypertension. [22, 23] The complication may occur some time after surgery, and a patient who eventually needed a heart and lung transplant has been described. [24] Postoperative anticoagulation has not overcome this problem.

Because of the high risk of serious postsplenectomy thrombosis, the standard infection risks of splenectomy, and uncertain benefits, this procedure should be strongly discouraged in patients with hereditary stomatocytosis syndromes. [1, 25]

Cholecystectomy may be considered in patients with symptomatic cholelithiasis. The level of thrombotic risk is less certain but not trivial.

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Consultations

Because of the rarity of these disorders, consult a pediatric hematologist if questions arise regarding the diagnosis and for further management.

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