Three cases of multi-generational Pompe disease: Are current practices missing diagnostic and treatment opportunities?

Authors:
Stephanie Austin
Stephanie Austin
Duke University Medical Center
United States
Jennifer Sullivan
Jennifer Sullivan
Vascular Biology Center
Lauren Bailey
Lauren Bailey
University of Tennessee Health Science Center
United States
David Viskochil
David Viskochil
University of Utah
Salt Lake City | United States
Priya S Kishnani
Priya S Kishnani
Duke University Medical Center
United States

Am J Med Genet A 2017 Oct 1;173(10):2628-2634. Epub 2017 Aug 1.

Duke University Medical Center, Durham, North Carolina.

Pompe disease (Glycogen storage disease type II, GSDII, or acid maltase deficiency) is an autosomal recessive metabolic myopathy with a broad clinical spectrum, ranging from infantile to late-onset presentations. In 2015, Pompe disease was added as a core condition to the Recommended Uniform Screening Panel for state newborn screening (NBS). The clinical importance of Pompe disease is evolving with the use of NBS, increasing awareness of the disease, and higher than previously reported disease prevalence; however, current practices miss additional diagnostic and potential treatment opportunities in close relatives of the family proband. In this report, we describe three families with multiple individuals in multiple generations affected by both infantile and late-onset clinical presentations of Pompe disease. The presence of multi-generational disease within these families highlights the importance of subsequent risk assessment through medical history and physical examination, with a low threshold for the screening of a proband's family members. We recommend enzymology (GAA activity assay) as the first screening method, as opposed to targeted mutation analysis, for at-risk family members. Given that the initial symptoms of the slowly progressive late-onset presentation of Pompe disease may be mild or non-specific, enzymatic testing of all parents of affected infants should be considered.

Download full-text PDF

Source
http://dx.doi.org/10.1002/ajmg.a.38369DOI Listing
October 2017
7 Reads

Publication Analysis

Top Keywords

pompe disease
24
disease
10
current practices
8
infantile late-onset
8
family members
8
pompe
6
diagnostic potential
4
targeted mutation
4
potential treatment
4
additional diagnostic
4
practices additional
4
treatment opportunities
4
prevalence current
4
close relatives
4
method opposed
4
proband report
4
report describe
4
family proband
4
relatives family
4
opposed targeted
4

Similar Publications