Living with Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
A rare genetic overgrowth condition in which parts of the body, often the legs, grow larger from extra fat and fibrous tissue.
Understanding Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
Overgrowth is segmental and progressive, mostly in fat tissue or a mix of fat and fibrous tissue. Muscle and bone can be involved. It is often uneven and affects the legs more than the arms. It usually starts before or at birth.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Overgrowth of a body part
- Extra fat tissue
- Fatty lumps (lipomas)
- Bone overgrowth
- Skin blood vessel marks (capillary malformation)
- Loss of fat in some spots (lipoatrophy)
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 hormone 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
CLOVES Syndrome Community may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Expert lists: CLOVES Syndrome Community
- 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 CLOVES Syndrome Community 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
It is caused by changes in the PIK3CA gene. GARD does not list an inheritance pattern.
Patient organizations
- CLOVES Syndrome CommunitySegmental progressive overgrowth syndrome with fibroadipose hyperplasia · United States
- Klippel-Trenaunay Support GroupSegmental progressive overgrowth syndrome with fibroadipose hyperplasia · United States
- M-CM NetworkSegmental progressive overgrowth syndrome with fibroadipose hyperplasia · United States
You are more than your diagnosis
Perspectives from people navigating life with Segmental progressive overgrowth syndrome with fibroadipose hyperplasia.
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