What are the other Names for this Condition? (Also known as/Synonyms)

• RDD of Digestive System

What is Rosai-Dorfman Disease of Digestive System? (Definition/Background Information)

• Rosai-Dorfman disease (RDD) is a rare, benign condition that causes proliferation of histiocytes, a type of white blood cells, within the lymph nodes and other organs of the body. It can cause painless, lymph node enlargements at various sites in the body
• Apart from the lymph nodes, RDD can also involve other body tissues and organs, such as the skin, bone, breast, respiratory airways, and central nervous system. In such cases, it is known as extranodal Rosai-Dorfman disease
• Rosai-Dorfman Disease of Digestive System is an extremely rare extranodal form of RDD, wherein along-with involvement of the lymph nodes, the gastrointestinal tract including the liver, spleen, gallbladder, and pancreas is also affected. The condition is usually seen in children and young adults
• The involvement of the digestive system may lead to associated symptoms including the presence of a mass in the GI tract, abdominal pain, fatigue, and weakness. The treatment of the condition may involve surgery, in case of severe symptoms
• The prognosis of Rosai-Dorfman Disease of Digestive System is usually good, since it can be a self-resolving condition. With appropriate treatment, as and when required, most individuals are able to make a complete recovery

Who gets Rosai-Dorfman Disease of Digestive System? (Age and Sex Distribution)

• Rosai-Dorfman Disease of Digestive System is a very rare condition that may affect children and adults. Only a few cases have been recorded
• Both male and female genders can be affected
• All racial and ethnic groups are at risk; although, more cases of RDD are seen in Africans and Afro-Americans than in Caucasians

What are the Risk Factors for Rosai-Dorfman Disease of Digestive System? (Predisposing Factors)

• The risk factors for Rosai-Dorfman Disease of Digestive System are not well-established
• However, some researchers believe that RDD may be influenced by certain viral and bacterial infections

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Rosai-Dorfman Disease of Digestive System? (Etiology)

The definitive cause of Rosai-Dorfman Disease of Digestive System is unknown. It may occur due to an abnormal immune system of the body, caused by a variety of triggers.

• Infectious etiology: Some researchers believe that RDD may be caused by viral infections, such as caused by varicella zoster virus (VZV), Epstein-Barr virus (EBV), cytomegalovirus (CMV), and herpes virus; and, by bacterial infections caused by Brucella sp and Klebsiella
• The abnormal immune response results in abnormal growth and multiplication of histiocytes within the lymph nodes. The histiocytes are a component of the white blood cells (WBCs or leukocytes) in the body
• An associated increase in leukocyte count in peripheral blood may also be seen

What are the Signs and Symptoms of Rosai-Dorfman Disease of Digestive System?

The signs and symptoms of Rosai-Dorfman Disease of Digestive System can vary from one individual to another. Some are known to have mild symptoms, while others may have severe symptoms. Also, in some individuals, the symptoms are known to ‘appear and disappear’ over time.

Manifestation of the condition within the digestive system can also involve the liver, spleen, gallbladder (very rarely), and pancreas, in addition to the gastrointestinal tract (GI tract) being affected. It is very rare for the GI system alone to be involved, and RDD of Digestive System usually forms part of a systemic disease.

The signs and symptoms of RDD of Digestive System may include:

• Fever and night sweats
• Headache
• Weight loss, fatigue
• Anemia, resulting in pale skin, tiredness, and shortness of breath
• Since the digestive system is involved, it can result in:
  • Presence of a small polypoidal mass in the colon: The condition can involve all parts of the GI tract, although the more common location is the large intestine (colon)
  • Lesions can be in the form of single or multiple masses
  • Narrowing of the intestine due to the tumor mass; narrowing of the lumen can be observed during a colonoscopy
  • Abdominal pain and abdominal swelling
  • Generalized weakness
  • Swollen gallbladder (cholecystitis)
• Lymphadenopathy or swollen lymph nodes; the enlargement is usually painless
  • The most commonly involved lymph nodes are the cervical (neck) lymph nodes, termed cervical lymphadenopathy
  • Other lymph nodes involved include those located in the inguinal (groin), axillary (armpits), mediastinal (chest), and para-aortic region
  • Lymph nodes at other regions of the body may also be affected

How is Rosai-Dorfman Disease of Digestive System Diagnosed?

Rosai-Dorfman Disease of Digestive System is diagnosed using the following methods:

• A thorough physical examination and assessment of one’s complete medical history
• Radiological studies (X-ray, CT scan, MRI scan, etc.) of the abdomen or affected part
• Complete blood count
• Tests to diagnose any underlying bacterial or viral infections
• Liver function test
• Colonoscopy: Generally, RDD of GI Tract is usually diagnosed incidentally during a colonoscopy

A biopsy on the affected lymph node may be performed:

• Lymph node biopsy: A lymph node biopsy is performed and sent to a laboratory for a pathological examination. The pathologist examines the biopsy under a microscope. After putting together clinical findings, special studies on tissues (if needed) and with microscope findings, the pathologist arrives at a definitive diagnosis. The pathologist may use special techniques, such as immunohistochemistry stains, to help reveal the presence of the pathogen
• The lymph node biopsy may be performed through any of the following procedures:
  • Fine needle aspiration biopsy (FNAB): A device called a cannula is used to extract tissue or fluid from the lymph nodes
  • Lymph node core biopsy of the enlarged lymph node
  • Lymph node open biopsy of the enlarged lymph node
• Flow cytometry to rule-out lymphoma: The test helps identify cells as they flow through an instrument, called a flow cytometer. Flow cytometry measures the number and percentage of cells in a blood sample, and cell characteristics such as size, shape, and the presence of biomarkers on the cell surface

Note: A differential diagnosis may be undertaken to eliminate conditions presenting similar signs and symptoms, prior to arriving at a definite diagnosis of RDD of Digestive System.

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Rosai-Dorfman Disease of Digestive System?

The complications of Rosai-Dorfman Disease of Digestive System may include the following:

• Emotional stress: Prolonged enlargement of the lymph nodes raising a concern for malignant conditions such as lymphomas
• Obstruction of the intestine due to narrowing of the lumen
• Involvement of the GI tract can raise a concern for cancer
• Complications due to surgery
• Dysfunction of liver, gallbladder, spleen, or pancreas

How is Rosai-Dorfman Disease of Digestive System Treated?

No treatment may be required in some individuals with Rosai-Dorfman Disease of Digestive System, who present no signs and symptoms. In such cases, the healthcare provider may choose to undertake close observation of the affected individual.

However, if the symptoms are significant, then the following treatment measures may be considered:

• Steroid therapy for systemic disease
• Surgical removal of enlarged lymph nodes
• Surgery to remove the colonic mass, in order to rule-out cancer of the GI tract
• Rarely, chemotherapy and radiation therapy may be recommended on a case-by-case basis

How can Rosai-Dorfman Disease of Digestive System be Prevented?

There are currently no preventive methods available for Rosai-Dorfman Disease of Digestive System.

What is the Prognosis of Rosai-Dorfman Disease of Digestive System? (Outcomes/Resolutions)

• The prognosis of Rosai-Dorfman Disease of Digestive System is based on the severity of the signs and symptoms. In many cases, the prognosis is good, since it is self-limited (i.e., goes away without treatment on its own)
• In some individuals, severe complications may develop due to involvement of the digestive tract (including the liver and pancreas). In such individuals, the prognosis may be guarded

Additional and Relevant Useful Information for Rosai-Dorfman Disease of Digestive System:

General information on lymph nodes:

The lymph nodes are part of one’s immune system. The lymph nodes are present throughout the body, usually in groups. In normal healthy adults, one cannot feel (see or touch) the lymph nodes readily. However, if they are enlarged, they can be felt either by the individual himself/herself or by the healthcare provider.

Enlarged lymph nodes can occur in both benign and malignant conditions. Hence, the cause of enlarged lymph nodes should be evaluated. If no obvious cause for enlargement of lymph nodes is found, then the possibility of a lymph node malignancy should be ruled out.

In a majority of individuals, a lymph node swelling is caused by a benign process such as an inflammation or infection. In many cases, swollen lymph nodes are part of other signs and symptoms. This can help a healthcare provider arrive at a list of follow-up tests and ensure an accurate diagnosis. Superficial enlarged lymph nodes can be felt by the healthcare provider through palpation. Enlarged lymph nodes deep in the body are often detected by radiological studies such as X-rays, ultrasound scan, CT and MRI scans.

Some enlarged lymph nodes can be painful, while others may be painless. Depending upon the underlying cause, enlarged lymph nodes can be localized to a particular area of the body, or they can be generalized, meaning that they are present throughout the body.