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Langerhans Cell Histiocytosis Pune
At Sancheti Hospital’s Ortho Onco Department, we provide expert care for Langerhans cell histiocytosis with precise evaluation and advanced therapies.
Overview
Langerhans Cell Histiocytosis (LCH) is a rare disorder that affects the body’s immune system. It happens when special immune cells called Langerhans cells grow out of control and build up in different parts of the body. These cells normally help fight infections, but when there are too many of them, they can form lumps and damage healthy tissues.
Medical experts have debated whether LCH is a type of cancer. Recent research shows it behaves like a cancer-like condition because of specific gene mutations found in the abnormal cells. The most common mutation is called the BRAF V600E mutation, which makes cells grow uncontrollably.
LCH mainly affects children, especially those between 1 and 15 years old, but adults can also develop it. It’s the most common type of histiocytosis, a group of conditions where certain immune cells multiply too much. The good news is that with proper treatment, many people with LCH can be cured or have their symptoms well-controlled.
Symptoms
LCH symptoms vary greatly depending on which parts of the body are affected. This makes diagnosis challenging since symptoms can look like other more common conditions. Here are the main areas where LCH can cause problems:
Bone Problems
About 80% of children with LCH develop bone lesions. These can cause:
- Pain and swelling over bones
- Lumps on the skull, jaw, ribs, or other bones
- Headaches
- Back or neck pain
- Difficulty walking or limping
- Broken bones that happen easily
Skin Issues
LCH can affect the skin in several ways:
- In babies: Flaky scalp rash that looks like cradle cap
- In older children and adults: Red, brown, or crusted rashes
- Itchy or painful skin patches
- Blisters or bumps on the scalp
- Changes in nail color or nail loss
Other Body Systems
LCH can also affect:
- Mouth: Swollen gums, mouth sores, loose teeth
- Liver or spleen: Belly swelling, yellow skin (jaundice), easy bruising
- Bone marrow: Tiredness, frequent infections, bleeding problems
- Hormone glands: Excessive thirst and urination (diabetes insipidus)
- Ears: Chronic infections, hearing loss, ear discharge
- Eyes: Bulging eyes, vision problems
- Lymph nodes: Swollen glands in neck, armpits, or groin
- Brain and spinal cord: Headaches, balance problems, memory changes
Lungs: Chest pain, cough, breathing difficulties (mainly in adults who smoke)
Causes
The exact cause of LCH is not fully understood, but scientists have made important discoveries about its genetic basis. The condition is not inherited from parents but develops due to gene mutations that happen during a person’s lifetime.
The most significant finding is that about half of all LCH cases involve a mutation in the BRAF gene called the BRAF V600E mutation. This gene normally controls cell growth, but when mutated, it causes cells to grow uncontrollably. The BRAF gene is part of a cellular pathway called the MAPK pathway, which is crucial for normal cell development.
When LCH doesn’t involve the BRAF mutation, other mutations in related genes like MAP2K1, RAS, and ARAF may be responsible. All these mutations lead to the same problem: cells in the MAPK pathway become overactive, causing Langerhans cells to multiply excessively.
Risk Factors
While LCH can affect anyone, certain factors may increase the risk:
- Family history of LCH or other cancers
- Hispanic ethnicity
- Smoking (especially for lung LCH in adults)
- Exposure to certain chemicals during pregnancy
- Workplace exposure to metal, granite, or wood dust
- History of infections as a newborn
- Not receiving childhood vaccinations
Diagnosis
Diagnosing LCH requires several steps because its symptoms can mimic other conditions. The process typically includes:
Essential Tests
- Biopsy: The most important test where doctors remove a small piece of affected tissue and examine it under a microscope for LCH cells
- Blood tests: Check blood cell counts and organ function
- Genetic testing: Look for BRAF mutations and other gene changes
- Urine tests: Check for diabetes insipidus and other problems
Imaging Tests
- X-rays: Show bone damage and lesions
- CT scans: Provide detailed pictures of bones and organs
- MRI scans: Best for examining the brain, spine, and soft tissues
- PET scans: Help find active LCH throughout the body
- Ultrasound: Check liver and spleen size
Types
LCH is classified based on how many body systems are affected:
Single-System LCH
- LCH affects only one organ or body system
- Most common types include bone-only LCH or skin-only LCH
- Pulmonary LCH affects only the lungs (mainly in smokers)
- Generally has a better outlook
Multisystem LCH
- LCH affects two or more organ systems
- More serious than single-system LCH
- Requires more intensive treatment
Can be life-threatening if high-risk organs are involved
Stages
Instead of traditional cancer stages, LCH is classified by risk level:
Low-Risk LCH
Involves organs like:
- Skin, bones, lungs
- Lymph nodes
- Thyroid and pituitary glands
- Central nervous system (in some cases)
Patients with low-risk LCH have excellent survival rates, often close to 100% with proper treatment.
High-Risk LCH
Involves high-risk organs including:
- Liver
- Spleen
- Bone marrow
High-risk LCH is more challenging to treat and has a higher chance of coming back after treatment. It’s more common in very young children under 2 years old.
Treatment
LCH treatment depends on the type and extent of the disease. Some mild cases may not need active treatment and can be watched carefully.
Treatment Options Include:
Observation
- For small, symptom-free lesions
- Many resolve on their own
Medications
- Steroids (like prednisone) to reduce inflammation
- Chemotherapy drugs for widespread disease
- Targeted therapy with BRAF inhibitors for patients with BRAF mutations
- Immunotherapy to boost the immune system
Procedures
- Surgery to remove single lesions
- Radiation therapy in special cases (rarely used)
- Stem cell transplant for very severe cases
Breakthrough Treatments
Targeted therapy represents a major advance in LCH treatment. BRAF inhibitors like vemurafenib specifically target the BRAF mutation, leading to rapid improvement in many patients. These drugs often work better than traditional chemotherapy with fewer side effects.
Rehabilitation
While not all patients need formal rehabilitation, many benefit from supportive care to address long-term effects. This may include:
- Physical therapy for bone and muscle problems
- Occupational therapy for daily activities
- Speech therapy for communication issues
- Psychological support for emotional well-being
- Educational support for children
The goal is to help patients maintain the best possible quality of life while managing any ongoing symptoms or complications.
Complications
Even with successful treatment, about half of children with LCH may experience long-term complications:
Common Complications
- Diabetes insipidus (lifelong condition requiring daily medication)
- Growth delay or short stature
- Hearing loss
- Bone and joint problems
- Hormone imbalances
- Scarring and cosmetic issues
Serious Complications
- Liver disease
- Lung problems (especially in smokers)
- Secondary cancers (rare but possible)
- Neurological problems affecting memory and coordination
- Mental health issues like depression and anxiety
Prevention
Unfortunately, LCH cannot be prevented because it’s caused by genetic mutations that occur randomly. However, you can reduce some risk factors:
- Avoid smoking or quit if you smoke
- Minimize exposure to harmful chemicals
- Ensure children receive recommended vaccinations
- Maintain good overall health
Living With LCH
Living with LCH requires ongoing medical care and monitoring. Key aspects include:
Regular Follow-Up
- Scheduled appointments with specialists
- Regular imaging tests to check for disease return
- Blood tests to monitor organ function
- Screening for late effects
Daily Management
- Taking medications as prescribed (especially for diabetes insipidus)
- Attending therapy sessions if needed
- Maintaining a healthy lifestyle
- Staying connected with support groups
Long-Term Outlook
Many people with LCH go on to live normal, healthy lives. Children who are successfully treated often grow up without major limitations, though they may need ongoing care for certain complications.
Key Takeaways
- LCH is a rare disorder caused by genetic mutations, particularly the BRAF V600E mutation
- Symptoms vary widely depending on which organs are affected
- Diagnosis requires biopsy and genetic testing
- Treatment ranges from observation to chemotherapy and targeted therapy
- BRAF inhibitors represent a major breakthrough for patients with BRAF mutations
- Most patients with low-risk disease have excellent outcomes
- Long-term follow-up is essential due to potential complications
At Sancheti Hospital, we understand the complexity of rare disorders like Langerhans Cell Histiocytosis. Our multidisciplinary team of specialists, including pediatric oncologists, orthopedic surgeons, and rehabilitation experts, work together to provide comprehensive care for patients with LCH.
We offer advanced diagnostic capabilities, including genetic testing and state-of-the-art imaging, to ensure accurate diagnosis. Our treatment approach incorporates the latest therapies, including targeted therapy options, while providing supportive care to manage complications and improve quality of life.
We believe in partnering with patients and families throughout their journey, offering not just medical treatment but also emotional support and resources for long-term management of this challenging condition.
Meet Our Ortho Onco Specialist
Patient Stories & Experiences
The pain in my left knee left me feeling helpless for years. After my treatment here, I can finally say I'm pain-free.
Vinita Singh
The nerves were swollen, and the body went numb. But thanks to Sancheti Hospital, I got a second life!
Parvati
I finally could walk again, a relief I've only felt after the hip pain surgery. I thank the doctors at Sancheti Hospital for their help.
Balaji Kharat
I'm a police officer, and I'm extremely thankful to Sancheti Hospital for treating my fracture without surgery.
Shantilal
My life has completely changed after the knee replacement surgery at Sancheti Hospital. It's like I can finally live again!
Kalpana Lepcha
The knee pain I've carried for years finally went away with the help of Sancheti Hospital.
Karuna
I can't believe that I get to finally live a normal and happy life, all thanks to the knee surgery I had at Sancheti Hospital.
Kishore Bhosle
Frequently Asked Questions
Is LCH a type of cancer?
LCH is considered a cancer-like condition or neoplasm. While it behaves differently from typical cancers, the discovery of gene mutations like the BRAF V600E mutation supports its classification as an oncogene-driven disorder. It’s treated by cancer specialists using similar approaches to cancer treatment.
What are the most common symptoms of LCH?
The most common symptoms include bone pain and swelling (especially in the skull), skin rashes that may look like cradle cap in babies, and swollen lymph nodes. Symptoms depend entirely on which parts of the body are affected.
How is LCH diagnosed?
Diagnosis requires a biopsy of affected tissue to identify characteristic LCH cells. This is supported by genetic testing for BRAF mutations, blood tests, and imaging studies like X-rays, CT scans, and MRI scans to determine disease extent.
Can LCH be cured?
Yes, many patients with LCH can be cured, especially those with single-system disease or low-risk multisystem disease. The cure rate for low-risk LCH approaches 100% with appropriate treatment. Even high-risk cases have improved outcomes with modern therapies.
What are the long-term effects of LCH?
Long-term effects vary but may include diabetes insipidus, growth delay, hearing loss, and bone problems. About half of children with LCH experience some complications, but many can be managed effectively with proper medical care and follow-up.
