Hereditary Disorders of Red Cell Permeability Follow-up

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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Follow-up

Further Outpatient Care

Monitor patients for complications of hemolysis, such as cholelithiasis and parvovirus infection, as well as iron overload in older patients.

Follow-up care every 1-2 years with CBC count, physical examination, and as-needed visits for illness is usually sufficient.

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Further Inpatient Care

Inpatient care is generally required only in the newborn period if significant anemia or hyperbilirubinemia is present. In older patients, hospitalization may be needed if aplastic crisis or serious infection occurs.

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Inpatient & Outpatient Medications

Patients with significant hemolysis should receive 1 mg of folic acid daily. Patients with hyperferritinemia (usually adults) should be considered for chelation therapy with deferoxamine.

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Deterrence/Prevention

Offer genetic counseling to all patients with a hereditary stomatocytosis syndrome; autosomal dominant inheritance is generally observed.

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Complications

Hemolytic anemia is the primary complication of the stomatocytosis syndromes. Severity widely varies, although most patients have some degree of hemolysis. Cholelithiasis may occur in patients with significant hemolysis.

Iron overload may occur, even in patients who have not been transfused. Transfusion-related problems may occur.

Hypercoagulability with devastating venous thrombosis is a complication in patients with these disorders who have undergone splenectomy. Thrombotic complications have affected peripheral and pulmonary arteries, as well as superficial, deep, and portal veins. Intracardiac mural thrombi have also been reported. Heparinization followed by long-term warfarin (Coumadin) use has not been effective in preventing recurrent thrombosis.

Parvovirus and other severe infections can induce aplasia in patients with hereditary stomatocytosis syndromes. A significant drop in hemoglobin can result because of decreased erythrocyte half-life. [26]

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Prognosis

The prognosis for patients with stomatocytosis disorders is generally good.

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Patient Education

Patients and their parents should be educated about the genetics of the disease, signs and symptoms of hemolysis and anemia, and when to call their physician.

Patients considering splenectomy should be educated about the reasons why this procedure should be avoided.

Patients should know the signs and symptoms of gallstones and understand that they are at increased risk if they have significant hemolysis.

Patients with dehydrated hereditary stomatocytosis (DHSt) and overhydrated hereditary stomatocytosis (OHSt) should be aware of the risk of iron overload over time, even in the absence of red cell transfusions.

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