Living with Sphingomyelin/cholesterol lipidosis
A group of inherited conditions, called Niemann-Pick disease, in which fats build up in organs including the spleen, liver and brain.
Understanding Sphingomyelin/cholesterol lipidosis
Fats collect in the spleen, liver, lungs, bone marrow and brain. Symptoms may include poor coordination, brain changes, learning problems, stiff muscles, trouble feeding and swallowing, slurred speech, and an enlarged liver and spleen. There are four main types. Type A is the most severe and begins in early infancy. Type B usually starts in childhood and mainly affects the liver, spleen and lungs. Types C1 and C2 can affect the brain and organs.
Signs & symptoms
GARD doesn't list a separate symptom list for this condition. Based on its summary, symptoms include:
- Poor muscle coordination
- Learning problems
- Stiff muscles (spasticity)
- Feeding and swallowing trouble
- Slurred speech
- Enlarged liver and spleen
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
National Niemann-Pick Disease Foundation, Inc. may keep lists of experts for this condition.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Expert lists: National Niemann-Pick Disease Foundation, Inc.
- 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 National Niemann-Pick Disease Foundation, Inc.
- 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 types A and B come from changes in the SMPD1 gene, type C1 from the NPC1 gene and type C2 from the NPC2 gene. It is inherited in an autosomal recessive pattern.
Also known as: lipoid histiocytosis; lipoid histiocytosis (classical phosphatide); neuronal cholesterol lipidosis; niemann-pick disease; niemann-pick disease with cholesterol esterification block; niemann-pick disease, subacute juvenile form
Patient organizations
- National Niemann-Pick Disease Foundation, Inc.Sphingomyelin/cholesterol lipidosis · United States
You are more than your diagnosis
Perspectives from people navigating life with Sphingomyelin/cholesterol lipidosis.
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