Living with EPHB4-related lymphatic-related hydrops fetalis
A rare genetic condition of the lymph system, ranging from severe swelling before birth to mild leg swelling.
Understanding EPHB4-related lymphatic-related hydrops fetalis
Some babies have severe fluid buildup before birth (hydrops fetalis). In others it goes away fully, or the condition is mild and shows up later in life as varicose veins, swelling, and slow lymph drainage in the legs. A hole between the upper heart chambers has been seen and may be the only sign in some people.
Signs & symptoms
GARD describes these features in its summary:
- Fluid buildup in the baby before birth (hydrops fetalis)
- Swelling in the legs (peripheral edema)
- Varicose veins
- Slow lymph drainage in the legs
- Hole between the upper heart chambers (atrial septal defect)
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 genetic specialists, heart and blood vessel specialists and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in EPHB4 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
- Genetic specialists (geneticists); Heart and blood vessel specialists (cardiologists); 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
Changes in the EPHB4 gene cause this condition. It is autosomal dominant, which means a change in one copy of the gene can cause it.
Also known as: ephb4-related generalised lymphatic dysplasia with atrial septal defect; ephb4-related generalised lymphatic dysplasia with non-immune hydrops fetalis; ephb4-related generalized lymphatic dysplasia with atrial septal defect; ephb4-related generalized lymphatic dysplasia with non-immune hydrops fetalis; ephb4-related lrhf/gld; ephrin receptor b4-related lymphatic-related hydrops fetalis
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 EPHB4-related lymphatic-related hydrops fetalis.
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