Living with Niemann-Pick disease, type B
An inherited fat-processing condition that usually shows up in the pre-teen years, affecting the liver, spleen, and lungs.
Understanding Niemann-Pick disease, type B
Also called chronic visceral acid sphingomyelinase deficiency. Signs usually develop in the pre-teen years. They can include an enlarged liver and spleen, short stature, lung problems with frequent lung infections, and a low platelet count (thrombocytopenia). GARD lists childhood as the usual onset.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Enlarged liver and spleen
- Short stature
- Lung function problems that worsen over time
- Low platelet count (thrombocytopenia)
- Delayed puberty
- Thin, weak bones (osteopenia, osteoporosis)
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 brain and nervous system specialists, digestive system specialists, genetic specialists and hormone specialists.
- 3Consider genetic testing
Changes in SMPD1 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
National Niemann-Pick Disease Foundation, Inc. and The Foundation for Peripheral Neuropathy may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Digestive system specialists (gastroenterologists); Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- Expert care
- Expert lists: National Niemann-Pick Disease Foundation, Inc., The Foundation for Peripheral Neuropathy
- 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. 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
Changes in the SMPD1 gene cause this condition. It is inherited in an autosomal recessive way, meaning a child inherits a changed copy of the gene from each parent.
Also known as: chronic visceral acid sphingomyelinase deficiency; chronic visceral asmd; niemann-pick disease non-neuropathic type; niemann-pick disease type b; niemann-pick disease, chronic non-neuronopathic; npd-b
Patient organizations
- National Niemann-Pick Disease Foundation, Inc.Niemann-Pick disease, type B · United States
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Niemann-Pick disease, type B.
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