Erdheim-Chester Disease (Lipoidgranulomatosis, ECD)

Erdheim-Chester Disease

What Is Erdheim-Chester Disease?

Erdheim-Chester Disease is a rare non-Langerhans cell histiocytosis that can invade multiple organ systems, characterized by foamy histiocytosis.

It was first described by Jakob Erdheim and William Chester in 1930, and called Lipoidgranulomatosis. In 1972, two other similar cases were reported and named Erdheim-Chester Disease, abbreviated as ECD.


What Is The Cause Of Erdheim-Chester Disease?

The etiology of Erdheim-Chester Disease is unknown and is currently thought to be related to the BRAFV600E mutation.

Erdheim-Chester Disease is common in the middle-aged and elderly population.


What Is The Symptoms Of Erdheim-Chester Disease?

ECD lesions can affect all systems of the body, and the clinical manifestations vary according to the affected sites, including bone pain, diabetes insipidus, exophthalmos, and dyspnea. The general symptoms include fever, fatigue, night sweats, and weight loss, and these manifestations have no specificity.

Skeletal system:

About half of the patients present with bone pain, and the vast majority of ECD patients present with bone involvement, with lower extremity bone being the most common.

Post-orbital lesions:

Post-orbital involvement is one of the common clinical manifestations, manifested as unilateral or bilateral exophthalmos, or even blindness.

Cardiovascular system:

Most patients have no obvious clinical manifestation.

When the pericardium is damaged to cause a large amount of pericardial effusion, chest tightness and suffocation may occur.

Myocardial ischemia-like manifestations can be caused when the lesions involve the coronary arteries, such as chest tightness and chest pain.

When the myocardium suffers from diffuse damage, heart failure-like manifestations such as lower limb edema and dyspnea may occur.

Intestinal ischemia occurs when the lesion surrounds the mesenteric vessels, such as abdominal pain.

Respiratory system:

Most patients are asymptomatic, and a few patients may present with dry cough, dyspnea, etc.

Central nervous system:

There are corresponding clinical manifestations of parenchymal involvement in different parts of the brain, such as manifestations related to limb dyskinesia, changes in consciousness, polydipsia, polyuria, and decreased secretion of other hormones.

Skin involvement:

Skin lesions often present as xanthoma-like changes, often occurring in the eyelids, and may also occur in the face, neck, axilla, trunk, groin, and other regions.


How To Check Erdheim-Chester Disease?

Clinical and imaging manifestations of the bone, orbit, skin, and cardiovascular system.

Pathological diagnosis: Pathological diagnosis is the standard for diagnosing ECD.


How To Prevent Erdheim-Chester Disease?

ECD is a rare, non-hereditary condition, and the etiology remains unknown. We can attach importance to it from the aspects of daily living habits and improve the quality of life.

  • Reasonable diet, balanced nutrition, appropriate exercise, enhance the physique.
  • Maintain a good positive attitude and mood.
  • Relatives give enough psychological care and encouragement to create a relaxed and happy living environment.

How To Treat Erdheim-Chester Disease?

There is currently no standardized protocol or effective treatment for ECD. Treatment options available include corticosteroids, radiation therapy, chemotherapy, surgery, immunotherapy, and combination therapy.

What is the prognosis of Erdheim-Chester Disease?

Erdheim-Chester Disease has a poor prognosis, which is related to the degree of infiltration of internal organs. It often dies of heart, lung, and renal failure two to three years after the diagnosis is made.

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