Abstract Details

Title A Case of Familial Myasthenia Gravis and Azathioprine-induced Bone Marrow Toxicity in Multiple Family Members

Topic Muscle Disease/Neuromuscular Junction

Presentation(s) P02 - (-)

Poster/Presentation
Number 193

Objective

Background BACKGROUND: Late-onset hereditary myasthenia gravis (MG) is an autoimmune disorder caused by rare genetic mutation(s). It represents only 3% of all MG cases. We encountered a family with three subsequent generations of women, each of whom developed MG after the age of 50 years. Two of the three were treated with azathioprine and subsequently developed bone marrow toxicity with significant decreases in red blood cells, white blood cells and platelets. This toxicity has been associated with pharmacogenetic polymorphism in the 6-mercaptopurine pathway. Subsequent diagnoses were established as pancytopenia (the mother) and aplastic anemia (the daughter).

Design/Methods DESIGN/METHODS: We conducted a primary literature search through Medline to determine whether there had been any prior case reports of familial MG and multiple cases of azathioprine- induced bone marrow toxicity in a single family. Search terms included myasthenia gravis, azathioprine and bone marrow.

Results RESULTS: The literature search revealed no published cases describing first-degree relatives with myasthenia gravis also reporting bone marrow toxicity subsequent to azathioprine exposure.

Conclusions CONCLUSIONS: The history of these two patients with familial myasthenia gravis and azathioprine-induced bone marrow toxicity seems to suggest there may be a genetic component that may have lead to a predisposition for both. As there are no cases previously reported in the medical literature, no known genetic connection and no information about any genetic alterations in the patients in question, a definitive conclusion about the potential link cannot be drawn.

Authors/Disclosures
Blanca L. Marky, MD, FAAN PRESENTER	No disclosure on file
Steve Kanes, MD, PhD (Sage Therapeutics)	Dr. Kanes has received personal compensation for serving as an employee of Sage Therapeutics. Dr. Kanes has received personal compensation in the range of $0-$499 for serving as an officer or member of the Board of Directors for Verge Genomics. Dr. Kanes has received intellectual property interests from a discovery or technology relating to health care.
	No disclosure on file
Michele Faulkner, PharmD	Dr. Faulkner has received personal compensation for serving as an employee of Alexion-AstraZeneca Rare Disease. Dr. Faulkner has stock in Alexion-AstraZeneca Rare Disease.

��ɫ��

��ɫ��