Living with Cholestasis-edema syndrome, Norwegian type
A rare genetic condition with liver bile flow problems from birth and long-term swelling in the legs from lymph fluid.
Understanding Cholestasis-edema syndrome, Norwegian type
Babies have cholestasis (slowed bile flow in the liver), which often eases and comes and goes with age. They also have severe long-term lymphedema (swelling from lymph fluid), mainly in the lower limbs. Trouble absorbing fat can lead to poor growth and low levels of fat-soluble vitamins, with bleeding, rickets, and nerve problems. In 25% of cases, scarring of the liver (cirrhosis) occurs in childhood or later.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Yellow skin and eyes (jaundice)
- Swelling from lymph fluid (lymphedema)
- Enlarged liver
- Enlarged spleen
- Pale, clay-colored stools
- Belly pain, nausea, and vomiting
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 digestive system specialists, genetic specialists and skin, hair, and nail specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Digestive system specialists (gastroenterologists); Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- 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 Children's Skin Disease Foundation
- 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
GARD says changes in genes cause this condition but doesn't name a specific gene. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: aagenaes syndrome; cholestasis-lymphedema syndrome; cholestatic jaundice with hereditary lymphedema; norwegian cholestasis
Patient organizations
- Children's Skin Disease FoundationSkin diseases · United States
Broader rare-disease groups
- 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 Cholestasis-edema syndrome, Norwegian type.
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