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

• Franklin Disease
• Gamma Heavy Chain Deposition Disease
• IgG Heavy Chain Disease

What is Gamma Heavy Chain Disease? (Definition/Background Information)

• Gamma Heavy Chain Disease is characterized by the abnormal production of antibodies. Antibodies are made up of light chains and heavy chains.
• In this disorder, the heavy chain of the gamma antibody (IgG) is overproduced by the body.  Gamma Heavy Chain Disease mainly affects older adults and is similar to aggressive malignant (cancerous) lymphoma
• However, some people with this disorder have no symptoms. People with symptoms may respond to chemotherapy drugs, corticosteroids, and radiation therapy
• Approximately one-third of individuals with Gamma Heavy Chain Disease are also diagnosed with an autoimmune disorder

(Source: Gamma Heavy Chain Disease; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Who gets Gamma Heavy Chain Disease? (Age and Sex Distribution)

• Gamma Heavy Chain Disease is a rare disorder with about 120 cases reported in the scientific literature
• The presentation of symptoms typically occur in adulthood
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Gamma Heavy Chain Disease? (Predisposing Factors)

• Currently, no risk factors have been clearly identified for Gamma Heavy Chain Disease

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 Gamma Heavy Chain Disease? (Etiology)

The cause of Gamma Heavy Chain Disease is not known at the present time.

What are the Signs and Symptoms of Gamma Heavy Chain Disease?

The signs and symptoms of Gamma Heavy Chain Disease may vary among affected individuals. While some may be asymptomatic, others may exhibit severe signs and symptoms of the condition, which may include:

• Fever
• Mild anemia
• Difficulty swallowing (dysphagia)
• Recurrent upper respiratory infections
• Enlarged liver and spleen (hepatosplenomegaly)

(Source: Gamma Heavy Chain Disease; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Gamma Heavy Chain Disease Diagnosed?

Gamma Heavy Chain Disease is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests, including immunological identification of free gamma immune chains (without association with light chains) in serum
• Imaging studies
• Biopsy studies, if necessary

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 Gamma Heavy Chain Disease?

The complications of Gamma Heavy Chain Disease may include:

• Lymphadenopathy (swollen lymph glands)
• Scarring of airway tissue due to recurrent infections
• Pneumonia
• Respiratory distress

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Gamma Heavy Chain Disease Treated?

The treatment for Gamma Heavy Chain Disease may include:

• Addressing any associated auto-immune disorder (about a third of those diagnosed with Gamma Heavy Chain Disease have an associated autoimmune disorder)
• Chemotherapy drugs (, corticosteroids, and radiation therapy for symptomatic individuals: Commonly used chemotherapeutic agents include cyclophosphamide, prednisone, vincristine, chlorambucil and doxorubicin

(Source: Gamma Heavy Chain Disease; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How can Gamma Heavy Chain Disease be Prevented?

• The causes and risk factors for Gamma Heavy Chain Disease are not known, and therefore, no preventive methods or guidelines are available at the present time
• Active research is currently being performed to explore the possibilities for treatment and prevention of disorders such as Gamma Heavy Chain Disease
• Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Gamma Heavy Chain Disease? (Outcomes/Resolutions)

• The prognosis of Gamma Heavy Chain Disease is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• In some cases, the condition can lead to a fast-progressing neoplasm, which may lead to a poor outcome
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Gamma Heavy Chain Disease:

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/