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A novel APOA1 frameshift mutation Glu120Glyfs*60 with upper gastrointestinal involvement and an indolent course

A novel APOA1 frameshift mutation Glu120Glyfs*60 with upper gastrointestinal involvement and an... AMYLOID https://doi.org/10.1080/13506129.2023.2187679 LETTER TO THE EDITOR A novel APOA1 frameshift mutation Glu120Glyfs 60 with upper gastrointestinal involvement and an indolent course Hereditary amyloidosis is an autosomal dominant disorder, A repeated EGD showed normal-appearing oesophagus, caused by a mutant protein with a higher tendency to form stomach and duodenum. Blind biopsies confirmed the pres- amyloid fibrils than the native protein. Presentation and age ence of amyloid deposits in the duodenum specimen only. of onset vary based on the precursor protein and the spe- Colonoscopy was normal macroscopically and by random cific variant [1]. Here we describe a novel apolipoprotein biopsies. Congo red stain was negative in lower GI A-1 (APOA1) gene mutation manifesting as systemic amyl- specimens. The patient’s parents both had mutation targeted testing, oidosis with upper gastrointestinal (GI) tract involvement. The proband was a 22-year-old male presenting with and the father, age 67, was found to carry the same muta- reduced performance as a cross-country runner. Blood tion. The father has essential hypertension from his fourth count was normal with haemoglobin of 13.6 g/dL and a nor- decade of life with no evidence of end-organ damage. His mal mean corpuscular volume. Iron deficiency, however, lipid profile was reported http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Amyloid Taylor & Francis

A novel APOA1 frameshift mutation Glu120Glyfs*60 with upper gastrointestinal involvement and an indolent course

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A novel APOA1 frameshift mutation Glu120Glyfs*60 with upper gastrointestinal involvement and an indolent course

Abstract

AMYLOID https://doi.org/10.1080/13506129.2023.2187679 LETTER TO THE EDITOR A novel APOA1 frameshift mutation Glu120Glyfs 60 with upper gastrointestinal involvement and an indolent course Hereditary amyloidosis is an autosomal dominant disorder, A repeated EGD showed normal-appearing oesophagus, caused by a mutant protein with a higher tendency to form stomach and duodenum. Blind biopsies confirmed the pres- amyloid fibrils than the native protein. Presentation and age ence of amyloid deposits...
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Publisher
Taylor & Francis
Copyright
© 2023 Informa UK Limited, trading as Taylor & Francis Group
ISSN
1744-2818
eISSN
1350-6129
DOI
10.1080/13506129.2023.2187679
Publisher site
See Article on Publisher Site

Abstract

AMYLOID https://doi.org/10.1080/13506129.2023.2187679 LETTER TO THE EDITOR A novel APOA1 frameshift mutation Glu120Glyfs 60 with upper gastrointestinal involvement and an indolent course Hereditary amyloidosis is an autosomal dominant disorder, A repeated EGD showed normal-appearing oesophagus, caused by a mutant protein with a higher tendency to form stomach and duodenum. Blind biopsies confirmed the pres- amyloid fibrils than the native protein. Presentation and age ence of amyloid deposits in the duodenum specimen only. of onset vary based on the precursor protein and the spe- Colonoscopy was normal macroscopically and by random cific variant [1]. Here we describe a novel apolipoprotein biopsies. Congo red stain was negative in lower GI A-1 (APOA1) gene mutation manifesting as systemic amyl- specimens. The patient’s parents both had mutation targeted testing, oidosis with upper gastrointestinal (GI) tract involvement. The proband was a 22-year-old male presenting with and the father, age 67, was found to carry the same muta- reduced performance as a cross-country runner. Blood tion. The father has essential hypertension from his fourth count was normal with haemoglobin of 13.6 g/dL and a nor- decade of life with no evidence of end-organ damage. His mal mean corpuscular volume. Iron deficiency, however, lipid profile was reported

Journal

Amyloid – Taylor & Francis

Published: Mar 11, 2023

References

  • Systemic amyloidosis from A (AA) to T (ATTR): a review
  • Amyloidogenicity and clinical phenotype associated with five novel mutations in apolipoprotein A-I
  • New clinical forms of hereditary apoA-I amyloidosis entail both glomerular and retinal amyloidosis
  • Hereditary apolipoprotein AI-associated amyloidosis in surgical pathology specimens: identification of three novel mutations in the APOA1 gene
  • Incidence of iron deficiency and iron deficient anemia in elite runners and triathletes
  • Effect of the amyloidogenic L75P apolipoprotein A-I variant on HDL subpopulations