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Endocrinology, Diabetes, and Metabolism

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Henry Ford Hopsital


Pompe’s disease is a lysosomal storage disease characterized by accumulation of glycogen primarily in muscle tissue. Infantile and late onset are the two common forms of this disease. We present a case of adult onset Pompe’s disease in a patient with type 1 diabetes mellitus (DM) with involvement of muscle, liver and bone. A 28-year-old male was being followed up for type 1 DM. He had long standing mild muscle weakness. Family history was significant for unknown muscle disorder in father and cardiomyopathy in grandfather. In addition to elevated CPK levels of 1340 (reference range < 130IU/L) there was elevation of transaminases. A muscle biopsy showed autophagic activity producing rimmed vacuole like structures in the muscle fibers with increased staining of cytoplasm with Periodic acid Schiff. Further work up was delayed due to being busy with college education. Ten years later patient decided to undergo further work up, which showed persistently elevated CPK and transaminase levels. EMG studies showed generalized myopathic process. Serum acid maltase level was found to be low. Genetic testing with acid alpha Glucosidase gene sequencing showed c.-32-13T>G and c.1655T>C (p. L552P) mutation. He was started on enzyme replacement therapy (ERT) with acid maltase infusions, which led to improvement in symptoms, CPK and transaminases levels. Pompe’s disease is a type 2 glycogen storage disease; adult onset is characterized by partial deficiency of enzyme acid maltase. Buildup of the glycogen in Pompe’s disease causes lysosomes to expand leading to muscle damage. Presentation involves limb girdle weakness, respiratory insufficiency, often presents as asymptomatic CPK elevation. Glycogen hepatopathy associated with poorly controlled diabetes and myotonic dystrophy are important differentials to consider in patients with type 1 DM. Patient’s with Pompe’s disease are also found to have increased incidence of low bone density and should be screened periodically with DEXA. Since glycogen hepatopathy is associated with uncontrolled Type 1 DM, tight control of diabetes may help to reduce the impact of acid alpha glucosidase deficiency. Improvement of bone density after ERT suggests need for further studies to elucidate the pathophysiology of bone involvement in this disorder. Late-onset Pompe’s disease is a rare, progressive, autosomal recessive disorder; disease progression and symptomatology are variable between individuals, which often delays the diagnosis. Additional impact of type 1 DM is of concern in our patient. Use of ERT has substantially altered outcomes for the patients, underscoring the importance of early diagnosis with high index of suspicion.

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Rare Case of Adult Onset Pompe’s Disease