Living with Familial pseudohyperkalemia
An inherited, mild red blood cell condition that makes potassium look high in blood samples stored in the cold.
Understanding Familial pseudohyperkalemia
Red cells leak potassium when a sample is stored below body temperature, so lab results can look high. It is a mild type of hereditary stomatocytosis and does not cause other blood problems, though red cells may be slightly larger than usual (macrocytosis). It can be found at any time in life.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- High blood pressure (hypertension)
- Stomatocytosis (mouth-shaped red blood cells)
- Falsely high potassium in stored samples
- Slightly large red blood cells (macrocytosis)
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include blood and bone marrow specialists and genetic specialists.
- 3Consider genetic testing
Changes in ABCB6 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Blood and bone marrow specialists (hematologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the ABCB6 gene cause it. It is autosomal dominant, which means one changed copy of the gene is enough.
Also known as: cryohydrocytosis, mild; pseudohyperkalemia chiswick; pseudohyperkalemia east london; pseudohyperkalemia falkirk; pseudohyperkalemia lille; pseudohyperkalemia, familial, 2, due to red cell leak
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Familial pseudohyperkalemia.
Explore research for Familial pseudohyperkalemia
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