Living with Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly
A progressive condition that affects bones, with pain and fractures starting in the twenties, and the brain, with changes starting in the thirties.
Understanding Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly
Bone changes usually appear in a person's twenties. Pain and tenderness in the ankles and feet come first, and later broken bones become frequent because of thin bones and cysts in the bones. Brain changes typically appear in the thirties, starting with personality changes, poor judgment, loss of inhibition and poor concentration. As the disease progresses, it can cause a severe decline in thinking and reasoning (dementia).
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Bone pain and tenderness in the ankles and feet
- Bone cysts and frequent fractures
- Joint pain and limited joint movement
- Personality and behavior changes
- Poor concentration and loss of inhibition
- Decline in thinking and reasoning (dementia)
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 bone and joint specialists, brain and nervous system specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
United Leukodystrophy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Bone and joint specialists (orthopedists or orthopedic surgeons); Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: United Leukodystrophy 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 United Leukodystrophy 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 gene. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: brain-bone-fat disease; dementia, prefrontal, with bone cysts; dementia, progressive, with lipomembranous polycystic osteodysplasia; nasu-hakola disease; nhd; plo-sl
Patient organizations
- United Leukodystrophy FoundationLeukodystrophies · 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 Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly.
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