Today, we focus on Niemann-Pick Disease—a rare genetic condition that affects how the body processes fats (lipids). Over time, fat builds up in the brain, liver, spleen, and other organs, causing serious health problems.
Dr. Roshan Daniel (MBBS, MD, DM Medical Genetics), one of India’s top genetic experts, has helped many families understand and manage Niemann-Pick Disease. Early diagnosis and proper care can help improve symptoms and slow down disease progression.
What is Niemann-Pick Disease?
Niemann-Pick Disease is a group of rare genetic disorders where the body cannot properly break down fats (lipids). This causes fats to build up in the cells of the liver, spleen, brain, and other parts of the body, leading to organ damage over time.
It happens because of a mutation (genetic change) in certain genes, including SMPD1 and NPC1/NPC2. These genes help the body process fats. When they don’t work properly, fat builds up inside cells, damaging tissues and organs.
Types of Niemann-Pick Disease
There are three main types of Niemann-Pick Disease, depending on which gene is affected and how severe the symptoms are:
Type A (Infantile Form):
•Symptoms start within the first few months of life.
•Affects the brain and nervous system.
•Life expectancy is usually less than 3 years.
Type B (Non-Neurological Form):
•Symptoms start in childhood or early adulthood.
•Mostly affects the liver, spleen, and lungs.
•Does not affect the brain.
•Many people with Type B survive into adulthood with proper care.
Type C (Neurological Form):
•Symptoms can start at any age.
•Affects the brain and nervous system.
•Causes problems with movement, speech, and learning.
•Life expectancy varies, but early diagnosis and treatment help improve outcomes.
💡 Type A and Type C involve the brain, while Type B mainly affects organs like the liver and spleen.
Common Symptoms of Niemann-Pick Disease
Symptoms depend on the type of Niemann-Pick Disease and how early it starts.
Early Symptoms:
✔ Poor feeding and growth in babies
✔ Weak muscles (floppiness)
✔ Delayed milestones (sitting, walking)
✔ Large liver and spleen (causing a swollen belly)
✔ Frequent lung infections
Neurological Symptoms (Mainly in Type A and Type C):
✔ Loss of balance and coordination
✔ Difficulty walking (ataxia)
✔ Trouble swallowing
✔ Slurred speech
✔ Difficulty with memory and learning
Other Symptoms:
✔ Jaundice (yellowing of the skin and eyes)
✔ Easy bruising and bleeding
✔ Lung problems
✔ Vision and hearing loss
💡 Symptoms often get worse over time without treatment.
Dr. Roshan Daniel’s Experience with Niemann-Pick Disease
In his practice, Dr. Roshan Daniel has seen many different cases of Niemann-Pick Disease:
✅ Liver and Spleen Enlargement – Some babies are brought in because of a swollen belly caused by an enlarged liver or spleen.
✅ Poor Muscle Tone – Floppiness in babies is a common early sign.
✅ Loss of Skills – In Type C, some children lose skills they had already learned, like walking or talking.
✅ Difficulty in Diagnosis – Some cases are hard to diagnose because early symptoms may look like other conditions.
✅ Genetic Testing and Early Care – Early testing and proper care have helped improve outcomes in some children.
💡 Early diagnosis helps doctors manage symptoms better and improve quality of life.
How is Niemann-Pick Disease Diagnosed?
Doctors use a combination of tests to confirm Niemann-Pick Disease.
Diagnosis Steps:
✔ Blood Test – Measures levels of certain fats (lipids) in the blood.
✔ Skin Biopsy – Checks how cells store and process fats.
✔ Genetic Test – Confirms the diagnosis by identifying mutations in the SMPD1, NPC1, or NPC2 genes.
✔ Eye Exam – Checks for “vertical gaze palsy” (trouble moving the eyes up and down), which is common in Type C.
✔ MRI of the Brain – Looks for signs of brain damage in Type A and Type C.
💡 Cost of Testing (as of February 2025):
✔ Blood Test: ₹3,000 – ₹5,000
✔ Genetic Test: ₹20,000 – ₹30,000
✔ Results in 2–3 weeks
How is Niemann-Pick Disease Treated?
There is no complete cure for Niemann-Pick Disease, but treatments help manage symptoms and improve quality of life.
1. Enzyme Replacement Therapy (ERT) – Available for Type B
•Replaces the missing enzyme.
•Helps improve liver, spleen, and lung function.
•Expensive, but available under government schemes and the Rare Disease Policy for free.
•Most patients respond well to ERT.
💡 Dr. Roshan Daniel has seen good improvement in Type B patients with ERT.
2. Substrate Reduction Therapy (For Type C)
•Reduces the buildup of fats in cells.
•Helps improve movement and brain function.
•Slows down disease progression.
3. Supportive Therapies:
🔹 Physical Therapy – Helps improve balance and muscle strength.
🔹 Speech Therapy – Improves swallowing and communication.
🔹 Medication – To manage seizures, tremors, and sleep problems.
🔹 Nutritional Support – Helps with feeding problems.
🔹 Lung Care – Treats infections and breathing problems.
💡 Early treatment improves comfort and helps patients live longer.
FAQs on Niemann-Pick Disease
💡 What causes Niemann-Pick Disease?
Niemann-Pick Disease is caused by a mutation (change) in the SMPD1, NPC1, or NPC2 genes. This mutation stops the body from breaking down fats properly, causing a toxic buildup in the cells.
💡 Is Niemann-Pick Disease inherited?
Yes. Niemann-Pick Disease is inherited in an autosomal recessive pattern.
•Both parents must be carriers of the faulty gene.
•If both parents are carriers, each child has a 25% chance of having the disease.
💡 Can Niemann-Pick Disease be diagnosed before birth?
Yes. If parents are carriers, prenatal genetic testing (amniocentesis or CVS) can check if the baby has the condition.
💡 Cost of Prenatal Testing: ₹35,000 (as of February 2025)
💡 Can people with Niemann-Pick Disease live normal lives?
•Type A is severe and life expectancy is usually less than 3 years.
•Type B patients can live into adulthood with proper care.
•Type C varies; early diagnosis and treatment help improve outcomes.
💡 What happens if Niemann-Pick Disease is not treated?
Without treatment, Niemann-Pick Disease can lead to:
✔ Severe brain damage
✔ Loss of muscle control
✔ Respiratory failure
✔ Early death in Type A and Type C
💡 Early diagnosis and treatment help prevent serious complications.
💡 Can Niemann-Pick Disease happen in future pregnancies?
Yes. If both parents are carriers, each pregnancy has a 25% chance of being affected.
✔ Prenatal testing (₹35,000) can confirm if a baby is affected.
✔ IVF with Preimplantation Genetic Diagnosis (PGD) can help avoid passing the condition to the baby.
Genetic Testing and Counselling for Niemann-Pick Disease
At KIMSHealth, Trivandrum, under Dr. Roshan Daniel’s care, we offer:
✔ Genetic testing and enzyme tests
✔ ERT under government support programs
✔ Family screening and genetic counselling
✔ Personalized treatment plans
✔ Online consultations for remote patients
Join Us in Spreading Awareness!
📢 No disease is too rare to care. Contact Dr. Roshan Daniel at KIMSHealth today for expert advice on Niemann-Pick Disease care! 💙