With the rapidly evolving role of the rare disease patient, RareShare is providing an online social hub to help connect rare disease patients and create virtual communities. RareShare has created a space for over 7,000 rare disease communities, with the philosophy that no matter how small the group, even two people can share their experiences and create a community.
Because the frequency of rare disease occurrence is relatively low, it is critical that detailed insights into the rare disease as experienced by those patients and their families are shared in a regulated and moderated environment. The exchange of this knowledge is bound to have a great impact on raising awareness of the rare disease that could eventually be vital to unlocking its scientific basis.
Large granular lymphocyte leukemia (LGLL), a rare form of chronic blood cancer, has one of the largest disease communities on the RareShare platform. The RareShare platform connects LGLL patients, their families, health workers and caregivers to currently available community resources.
On February 13th 2015, the first of RGI-RareShare disease specific track – Ask the Expert – podcast series was hosted to provide an opportunity for the general community to engage with experts in the field. By doing this, RGI is aiding the peer-sharing and collaboration between patients, patient advocates, foundations, researchers and physicians. The featured experts in the podcast were:
- Moderator: Dr. Deepa Kushwaha, Program Manager, RGI/RareShare
- Host: Dr. Jimmy Lin, RGI/RareShare
- Expert: Dr. Thomas Loughran, UVA
- Expert: Dr. Thierry Lamy, Rennes University, France
The podcast facilitated the understanding of clinical aspects and research perspectives of LGL leukemia. Patients from Michigan, North Carolina, Utah and Colorado among others learned answers to questions such as:
- What is LGLL? How was it discovered?
- What are the symptoms, causes or triggers?
- What are the known risks? Is there a possible involvement of a virus?
- What are some outcomes after LGLL?
- How many kinds of LGLL have been reported?
- What are the chances for chronic LGLL to change over to the aggressive type?
- Can genomic sequencing lead to treatment with precision medicine?
- What are the latest therapies in use?
- How can patients with no access to oncologists gain in depth knowledge on the disease?
Listen to the podcast:
Scientific reference: ‘How I Treat LGL Leukemia’
Information on LGLL clinical trials
RareShare/RGI partnering with the LGL Leukemia Foundation to provide additional resources to the LGLL community.
Stay tuned for upcoming podcasts on LGLL as well as other rare diseases from RareShare/RGI.
MORE ABOUT LGLL
Large granular lymphocyte (LGL) leukemia or LGLL is one form of rare chronic leukemia (blood cancer) that originates in cells destined to become the white blood cells (lymphocytes) in the bone marrow. In chronic leukemia, instead of maturing normally, the cancerous cells divide uncontrollably and eventually crowd out the normal cells. These cancerous cells move into the bloodstream from where they can spread to other organs thus inhibiting their function. The LGLL cancer cells are characterized as being large and contain large granules that are easily observed under a microscope. They have features of either of the two lymphocytes – T lymphocytes or natural killer (NK) lymphocytes. As the case may be, the body produces large amounts of either lymphocytes. LGLL commonly affects adults (average age at diagnosis is 60) and makes up 2-5% (1 in 250,000) of small lymphocytic leukemias.
Patients with LGL leukemia are prone to skin and respiratory infections. Other symptoms include fatigue that may be associated with anemia, enlarged spleen, fibromyalgia (widespread joint pain), rheumatoid arthritis and neutropenia (low white blood cell count). Flow Cytometry (provides information on cell size, number, type and granularity) and Bone Marrow Biopsy (confirmatory test for the diagnosis) are two tests undertaken to diagnose LGLL. Although most LGL leukemias are slow-growing, some of them can be aggressive. Current treatments use immunosuppressant drugs. Aggressive LGLL cancers are hard to treat. Treatments such as chemotherapy, stem cell transplants and surgery to remove the enlarged spleen are less common.
MORE INFO FROM THE PODCAST
When asked about Dr. Loughran’s role in discovering LGLL, he said ”we (also) got very lucky in that two of the three patients had an abnormal clone in their cytogenetics and since the clone was present in the blood, that’s why we called it LGL leukemia”. He also elaborated on the symptoms based on low white blood cells (pneumonia, skin and sinus infections), and anemic conditions (fatigue, tiredness and shortness of breath). Dr. Loughran noted that “patients often get autoimmune disease, particularly classic rheumatoid arthritis”. On the question of possible triggers, he talked about the possibility of a virus because “a statistically increased incidence of patients who are in the healthcare field or who were exposed to blood products (that) turned out to have LGL leukemia”. Dr. Lamy added that there could be a connection between HPV infection and concomitant leukemia. Both the experts agreed that chronic LGLL has no effect on longevity. They recommend embracing a good lifestyle that incorporates good diet and exercise.
Dr. Loughran also talked at length about the four types of LGLL and helped demystify chronic vs aggressive types. Although the aggressive form almost always results in death as it doesn’t respond to chemotherapy, he said “(LGLL) never changes from chronic to aggressive”. When asked how long before genomic sequencing can help find cure, Dr. Loughran answered that a lot of research still needs to be undertaken on the STAT gene before it can conclusively be used as diagnostic and clinical tool.
Dr. Lamy talked about the latest therapies which are largely immunotherapies. As for neurotherapy, they responded that “they are not there yet”. Dr. Lamy also talked about the philosophies and approaches to possible side effects of long term LGLL medication. Because of possible side effects of the medications that are used, he recommends that the patients are checked on a regular basis and monitored.
For those patients with no or limited access to oncologists and hematologists, Dr. Loughran’s advice was to check out the LGL leukemia registry, USA and the LGLL network, France, where they can find resources and also answers to questions fielded from people all around the globe. Listeners were advised to read ‘How I Treat LGL Leukemia’ as a scientific reference. For information on LGLL clinical trials they are directed to see here.
March 13, 201