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What Is Franklin Disease?

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  • Written By: Clara Kedrek
  • Edited By: Jessica Seminara
  • Last Modified Date: 08 September 2016
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Franklin disease, also known as gamma heavy chain disease, is a condition in which the body overproduces certain proteins that usually play an important role in the immune system. As a result of having too much of this type of protein, those with this condition can experience symptoms such as fatigue, enlargement of the lymph nodes, and susceptibility to infections. Diagnosis of Franklin disease relies on identifying high concentrations of gamma heavy chains in the blood. Chemotherapy usually offers the best treatment option for this condition.

Uncontrolled growth of a certain type of protein that plays an important role in the immune system is the cause of Franklin disease. Patients with this disease produce large amounts of heavy chains, which are components of the immunoglobulins — proteins that recognize and attach to foreign substances in the body, alerting other components of the immune system and allowing for the removal of this dangerous material. The disease is sometimes referred to as gamma heavy chain disease because it involves the overproduction of the gamma variety of heavy chains.

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Symptoms of Franklin disease include fever, tiredness, weakness, enlargement of the lymph nodes, increased size of the liver and spleen, and decreased red blood cell counts. One of the most characteristics symptoms of the disease is swelling in the back of the mouth, in the region of the palate and the tonsils. This swelling occurs due to proliferation of the lymphatic tissue that is typically found in this region of the body. If this swelling progresses, it can make breathing difficult. Patients with this condition are typically at increased risk for infection because their immune systems do not function properly.

Diagnosing Franklin disease typically relies on performing a number of different laboratory tests. Patients often have low red blood cell counts, a low concentration of platelets in the blood, and a high number of eosinosphils in the blood, which are a specific type of white blood cell. These findings are nonspecific, however, so the actual diagnosis of Franklin disease must be confirmed by doing a test called protein electrophoresis on blood and urine samples obtained from patients. This test is able to separate the proteins found in these fluid samples according to their size. If the disease is present, it will display an increased concentration of gamma heavy chain proteins.

Treating Franklin disease typically relies on giving affected patients chemotherapy. These treatments can help decrease the production of the gamma heavy chains that cause many of the manifestations of the disease. Chemotherapeutic regimens more commonly used to treat lymphoma can be utilized to treat Franklin disease. Rituximab, another type of chemotherapy agent, has also been successfully used to help treat the disease. Unfortunately, the prognosis for patients with the condition is typically poor, and many die within five years after diagnosis.

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