About Langerhans Cell Histiocytosis (LCH)

Overview
Langerhans cell histiocytosis (LCH) is a rare disorder that primarily affects babies and children. LCH occurs when there is an accumulation of immune system cells called Langerhans cells in the body. These cells are normally found throughout the body, including the skin, lymph nodes, spleen, lungs, liver, and bone marrow. In this condition, excess immature Langerhans cells form tumors called granulomas. These granulomas can develop in different parts of the body. Symptoms depend on the part of the body affected. In the skin, LCH may cause blisters, reddish bumps, or rashes. In the bones, LCH may cause pain and swelling and may lead to fractures. Other parts of the body potentially affected by LCH include the lungs, lymph nodes, bone marrow, liver, and spleen. LCH is considered by some researchers to be a form of cancer.
Causes and Risk Factors

LCH is a disorder characterized by the abnormal accumulation and proliferation of immature Langerhans cells, which are a type of immune cell. The exact cause of LCH is not fully understood. Genetic mutations and an abnormal (dysregulated) immune response may play a role in development of LCH.

Non-modifiable risk factors for LCH (factors that a person cannot change or control) include:

  • Age: LCH primarily affects babies and children, with peak incidence occurring between 1 and 3 years of age. It is rare in adults.
  • Gender: People assigned male at birth are slightly likely to develop LCH than people assigned female at birth.
  • Family history of LCH.

Modifiable risk factors for LCH (factors that a person could potentially change or control) include:

  • Environmental factors: Exposure to certain chemicals or toxins have been suggested as potential risk factors for LCH. Examples include metal, granite, or wood dust. However, more research is needed to establish a clear link.

It's important to note that while these factors may increase the risk of developing LCH, they do not guarantee its development. If you have concerns about your risk or symptoms suggestive of LCH, it's best to consult with a healthcare professional for an accurate diagnosis and appropriate management.

Symptoms

Symptoms of Langerhans cell histiocytosis depend on the part of the body affected.

Skin: Groin, Armpits, Arms, Abdomen, Chest, Back

  • Rash – may look like cradle cap or dandruff
  • Tender, painful, or itchy rash
  • Blisters

Lymph Nodes

  • Swollen or tender lymph nodes

Bone

  • Bone pain
  • Protruding eyes (rare)

Liver or Spleen

  • Abdominal swelling
  • Jaundice – yellowing of skin and whites of eyes
  • Itchy skin
  • Fatigue

Bone Marrow

  • Anemia (low red blood cell count)
  • Frequent infections
  • Easy bruising

Pituitary Gland

  • Excessive thirst
  • Frequent urination
  • Early or late puberty
  • Weight gain

Thyroid

  • Swollen thyroid
  • Hypothyroidism

Brain or Spinal Cord (Central Nervous System)

  • Headaches
  • Dizziness
  • Excessive thirst
  • Frequent urination
  • Difficulty walking; loss of balance
  • Seizures
  • Changes in memory or behaviors

Lungs

  • Chest pain
  • Difficulty breathing
  • Coughing up blood
  • Collapsed lung

Gastrointestinal

  • Abdominal pain
  • Nausea and vomiting
  • Bloody stool

It's important to note that the severity and specific symptoms of LCH can vary widely among individuals. If you suspect you or your child may have LCH or are experiencing any concerning symptoms, it's crucial to consult with a healthcare professional for an accurate diagnosis and appropriate management.

Diagnosis

To diagnose LCH, the following examinations, tests, and procedures are commonly performed:

  • Medical history: The healthcare professional will gather information about symptoms, medical history, medication use, and family medical history.
  • Physical exam: The healthcare professional looks for physical signs of LCH, such as rashes, blisters, sand welling and tenderness of the lymph nodes or organs.
  • Blood tests: Blood samples may be taken and sent to the lab for:
    • Complete blood count (CBC) with differential: Measures the amount of hemoglobin, red blood cells, white blood cells, and platelets. Abnormal levels can indicate LCH.
    • Blood chemistry studies: Measures the levels of certain substances released by organs and tissues in the body. Unusual levels may be a sign of disease.
    • Liver function test: Measures the levels of substances released by the liver. Abnormal levels can indicate liver involvement in LCH.
    • Genetic tests: Checks for mutations in certain genes.
  • Urine tests: A urine sample may be collected and sent to the lab to assess general health and signs of conditions that could be causing symptoms.
  • Bone marrow biopsy: A needle is used to obtain a sample of bone marrow from the hipbone or breastbone. The sample is examined by a pathologist under a microscope to look for signs of LCH or other conditions. Other tests can be performed on the sample.
  • Imaging procedures to look for signs of LCH in bones, organs, and other tissues based on symptoms:
    • Bone scan
    • X-ray
    • Ultrasound
    • Computerized tomography (CT) scan
    • Magnetic resonance imaging (MRI) scan
    • Positron emission tomography (PET) scan

Additional examinations, test and procedures may be performed based on initial findings and individual factors to examine involvement of specific parts of the body.

Remember that these are general descriptions, and your healthcare provider will determine which specific examinations, tests, and procedures are necessary based on your individual situation.

Treatment Options

The goals of treatment for LCH are to control the disease, relieve symptoms, and prevent complications. The specific treatment options for LCH may vary depending on the location and the extent of the disease. Here are some of the medication types, therapies, therapeutic procedures, health behavior changes, and other treatments that may be recommended:

Medications:

  • Chemotherapy: This involves using drugs to kill or slow down the growth of LCH cells.
  • Immunotherapy: This involves using substances that stimulate the immune system to fight against LCH cells.
  • Targeted therapy: Certain medications can specifically target the pathways involved in LCH cell growth.
  • Other medications to treat specific symptoms or affected parts of the body. For example:
    • Bisphosphonates: These medications may be considered for bone involvement to provide pain relief.
    • Steroids: These medications may use used to reduce inflammation from LCH, especially skin LCH.

Therapies:

  • Radiation therapy: This uses high-energy beams to target and destroy LCH cells.
  • Photodynamic therapy: A light-sensitive drug is used along with light to destroy LCH cells.

Therapeutic procedures:

  • Surgery: Surgery may be performed to remove tumors or lesions caused by LCH.
  • Stem cell transplant: This procedure replaces damaged stem cells with healthy stem cells which can then mature in the bone marrow to form red blood cells, white blood cells, and platelets.

Observation: In certain cases where the disease is stable or has resolved, close monitoring without active treatment may be recommended. Follow-up after treatment is also very important because LCH may recur (come back).

It's important to note that the specific treatment approach will depend on various factors such as age, extent of disease, and individual patient characteristics. Always consult with a healthcare professional for personalized advice. Medication dosing may be affected by many factors. Check with your health care professional about dosing for your individual situation. Other side effects can occur. Check with your health care professional or read the information provided with your medication for additional side effect information.

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