Familial pseudohyperkalemia may be associated with dehydrated hereditary stomatocytosis (xerocytosis).
Inheritance: autosomal dominant
Afffected genetic locus: 16q23-q24
Features:
(1) pseudohyperkalemia due to in vitro leakage of potassium from red blood cells at room temperature
(2) absence of in vivo hyperkalemia
(3) stomatocytes in the peripheral blood, which may be present in low numbers
(4) hemolytic anemia, which may be low-grade
(5) family members similarly affected
(6) exclusion of alternative diagnoses
The diagnosis can be supported by demonstration of a defect in the red cell membrane by molecular testing.
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Specialty: Endocrinology, Clinical Laboratory
