Living with Imerslund-Grasbeck syndrome
A condition with low vitamin B12 that leads to a blood problem called megaloblastic anemia.
Understanding Imerslund-Grasbeck syndrome
Its main feature is megaloblastic anemia, a shortage of red blood cells in which the cells are unusually large. About half of people also have protein in the urine, though kidney function appears normal. It typically begins in infancy or early childhood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Megaloblastic anemia
- Poor growth and weight gain (failure to thrive)
- Pale skin
- Excessive tiredness
- Repeated stomach or breathing infections
- Protein in the urine
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, digestive system specialists, genetic specialists and kidney specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Blood and bone marrow specialists (hematologists); Digestive system specialists (gastroenterologists); Genetic specialists (geneticists); Kidney specialists (nephrologists)
- 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 National Kidney Foundation and other patient organizations
- 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 genes cause this condition. It is inherited in an autosomal recessive pattern, meaning a child inherits a changed copy of the gene from each parent.
Also known as: enterocyte cobalamin malabsorption; enterocyte intrinsic factor receptor, defect of; familial megaloblastic anaemia; familial megaloblastic anemia; imerslund disease; imerslund-grasbeck anemia
Patient organizations
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Imerslund-Grasbeck syndrome.
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