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Familial pseudohyperkalemia

Disease definition

Familial pseudohyperkalemia (FP) is an inherited, mild, non-hemolytic subtype of hereditary stomatocytosis that is associated with a temperature-dependent anomaly in red cell membrane permeability to potassium that leads to high in vitro potassium levels in samples stored below 37°C. FP is not associated with additional hematological abnormalities, although affected individuals may show some mild abnormalities like macrocytosis.

ORPHA:90044

Classification level: Disorder
  • Synonym(s): -
  • Prevalence: Unknown
  • Inheritance: Autosomal dominant 
  • Age of onset: All ages
  • ICD-10: D58.8
  • ICD-11: 3A10.3
  • OMIM: 609153
  • UMLS: C4273970
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

Guidelines

ERN produced/endorsed by ERN(s)   FSMR produced/endorsed by FSMR(s)
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