Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy: Causes, Symptoms, and Treatment
Medically reviewed by Harsha Moole, MD, Internal Medicine. Last reviewed: October 2, 2026.
What kind of doctor treats Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy?
Several kinds of doctors may be involved because this disease affects both bones and the brain. An orthopedic doctor may help because people with PLOSL get bone cysts and fractures. Other specialists often include a neurologist and a genetics expert.
What it is
Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy is a very rare inherited disease. Many people call it PLOSL or Nasu-Hakola disease. It causes fluid-filled sacs called cysts to form in the bones and damages the white matter of the brain.
Bone pain in the wrists, ankles, or feet usually appears first. Later, the brain damage causes a dementia that gets worse over time.
Symptoms
Early symptoms are bone pain and swelling, usually in the wrists, ankles, or feet, and bones can fracture after minor bumps. Later symptoms include memory loss, poor judgment, and personality changes. Seizures and muscle stiffness can also happen.
Causes and who gets it
PLOSL is caused by changes in one of two genes, TREM2 or TYROBP. A child must inherit one changed copy from each parent to develop the disease; parents carrying only one copy usually have no symptoms. Symptoms usually begin in a person's twenties or thirties.
How doctors diagnose it
Doctors start with a medical history and questions about family history. X-rays can show the bone cysts, and an MRI scan can reveal damage to the brain's white matter. Genetic testing confirms the diagnosis.
Treatment
There is no cure for PLOSL, so treatment focuses on managing symptoms. Bone fractures may need casts, surgery, or other orthopedic care, and pain medicines can help. Therapy can keep a person moving longer, and supportive care can help with dementia symptoms.
When to see a doctor
See a doctor if you or a family member has repeated bone fractures from minor injuries or unexplained bone cysts on an X-ray. Also seek care for memory problems or personality changes in a young adult.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually costs more and often works alongside insurance. Either one can manage everyday needs and coordinate care among specialists for a rare disease like this.
Common questions
Is PLOSL the same as Nasu-Hakola disease?
Yes. Nasu-Hakola disease is another name for the same condition. The long medical name describes the bone cysts and the brain changes that the disease causes.
Can PLOSL be prevented?
No. The disease is inherited, which means it is passed down through genes from parents. A person who inherits two changed copies of the gene will develop the disease. Genetic testing can help families understand their risk.
How long do people with PLOSL usually live?
The disease shortens life. Many reported cases describe decline over one to two decades after symptoms begin. Every person is different, and doctors caring for the patient can give the most accurate picture of what to expect.
Should family members get tested?
Brothers and sisters of a person with PLOSL have a chance of carrying the changed gene. A genetic counselor, a trained expert who explains inherited conditions, can help a family decide whether testing makes sense for them.
Sources
- NIH Genetic and Rare Diseases Information Center - Polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly
- MedlinePlus Genetics - Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
- MedlinePlus - Dementia
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
