Living with Angioosteohypertrophic syndrome
A condition (Klippel-Trenaunay syndrome) with a port-wine birthmark, overgrowth of a limb, and vein malformations.
Understanding Angioosteohypertrophic syndrome
It has three main features: a red birthmark called a port-wine stain, overgrowth of soft tissue and bone, and vein malformations. Most people are born with the port-wine stain, which usually covers part of one limb. Overgrowth begins in infancy, usually in one leg, but can affect the arms or, rarely, the torso. Overgrowth can cause pain.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Port-wine birthmark
- One leg longer or wider than the other
- Poorly working veins (venous insufficiency)
- Skin infection (cellulitis)
- Blood clots in veins
- Bleeding in the digestive tract
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 and skin, hair, and nail specialists.
- 3Consider genetic testing
Changes in PIK3CA are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Sturge-Weber Foundation and Vascular Birthmarks Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Skin, hair, and nail specialists (dermatologists)
- Expert care
- Expert lists: Sturge-Weber Foundation, Vascular Birthmarks Foundation
- 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 Sturge-Weber 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
GARD lists the PIK3CA gene for this condition. It doesn't list an inheritance pattern.
Also known as: angio-osteohypertrophic syndrome; angioosteohypertrophy syndrome; haemangiectatic hypertrophy; klippel trenaunay syndrome; klippel-trenaunay syndrome; klippel-trenaunay-weber syndrome
Patient organizations
- Sturge-Weber FoundationAngioosteohypertrophic syndrome · United States
- Vascular Birthmarks FoundationAngioosteohypertrophic syndrome · United States
- Klippel-Trenaunay Support GroupAngioosteohypertrophic syndrome · United States
- Children's Skin Disease FoundationSkin diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Angioosteohypertrophic syndrome.
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