Diagnosing 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. In this condition, excess immature Langerhans cells form tumors called granulomas. These granulomas can develop in different parts of the body.

Specialists Involved: Various healthcare providers may be involved in diagnosing LCH depending on the specific circumstances. These specialists may include:

• Pediatricians
• Dermatologists
• Hematologists/oncologists
• Radiologists
• Pathologists

To diagnose LCH, doctors may perform several examinations, screening tests, and procedures. These tests help confirm the diagnosis and determine the type and severity of the disease. Here's what you need to know:

• 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: This procedure is used to check LCH affecting bones. It looks for rapidly dividing cells in the bone.
  • X-ray: This procedure creates images of bones and organs in the body. A radiologist examines the X-rays to identify abnormalities.
  • Ultrasound: This procedure uses high-energy sound waves to form images (pictures) of body tissues.
  • Computerized tomography (CT) scan: This procedure creates images of different areas of the body. Sometimes a dye is used to make organs or tissues stand out more.
  • Magnetic resonance imaging (MRI) scan: This procedure uses a magnet and radiowaves to create images of areas of the body. Sometimes radioactive material is used to detect areas where there may be cancer cells.
  • Positron emission tomography (PET) scan: This procedure uses radioactive glucose to find tumor cells in the body.

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

• Tissue Biopsy: In some cases, a biopsy may be necessary to confirm a diagnosis of LCH. During a biopsy, a small sample of tissue is taken from the affected area and examined under a microscope to identify abnormal cells characteristic of LCH.
• Pulmonary Function Tests: These tests assess lung function and help evaluate the impact of LCH on respiratory health.
• Bronchoscopy: A thin tube with a light and lens is inserted through the nose or mouth to examine the trachea and large airways in the lungs for abnormal areas. Tissue samples may also be taken for microscopic analysis.
• Endoscopy: A thin tube with a light and lens is inserted through the mouth to examine the gastrointestinal tract. Tissue samples may also be taken for examination under a microscope.

It's important to remember that each individual's diagnostic process may vary depending on their unique situation. If you have concerns about LCH or any other health condition, it's best to consult with a healthcare professional who can provide personalized guidance based on your specific needs and circumstances.