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Iron-deficiency anaemia, gastric hyperplasia, and elevated gastrin levels due to potassium channel dysfunction in the Jervell and Lange-Nielsen Syndrome

Published online by Cambridge University Press:  18 July 2012

Annika Winbo ,
Olof Sandström ,
Richard Palmqvist  and
Annika Rydberg
Annika Winbo*
Affiliation:
Department of Clinical Sciences, Pediatrics, Umeå University, Umeå, Sweden
Olof Sandström
Affiliation:
Department of Clinical Sciences, Pediatrics, Umeå University, Umeå, Sweden
Richard Palmqvist
Affiliation:
Department of Medical Biosciences, Pathology, Umeå University, Umeå, Sweden
Annika Rydberg
Affiliation:
Department of Clinical Sciences, Pediatrics, Umeå University, Umeå, Sweden
*
Correspondence to: A. Winbo, MD, Department of Clinical Sciences, Pediatrics, Umeå University, SE 901 85 Umeå, Sweden. Tel: +46907852122; Fax: +46907852522; E-mail: [email protected]
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Abstract

Aim

We investigated extra-cardiac clinical symptoms and signs in the rare Jervell and Lange-Nielsen Syndrome, characterised by impaired KCNQ1 function, a gene essential for gastric acid secretion.

Methods

All Swedish Jervell and Lange-Nielsen cases with double KCNQ1 mutations (14 cases) were investigated by medical record review, an interview, and were offered laboratory testing for iron-deficiency anaemia and gastrointestinal markers.

Results

A history of iron-deficiency anaemia in 12 of 14 patients and subjective gastrointestinal symptoms in 13 of 14 patients was revealed. Previous endoscopy in five cases had revealed no case of coeliac or inflammatory bowel disease but three cases of mucosal hyperplasia/dysplasia. Current signs of anaemia or iron substitution were present in 9 of 12 tested cases. Elevated levels of gastrin in seven of nine cases, pepsinogen in six of seven cases, and faecal calprotectin in nine of nine cases were present. A significant correlation between elevated gastrin levels and concurrent iron-deficiency and/or anaemia was revealed (p-value 0.039).

Conclusions

A high frequency of extra-cardiac clinical symptoms and previous medical investigations was found. We propose that the Jervell and Lange-Nielsen Syndrome phenotypically includes gastrointestinal symptoms/signs and secondary iron-deficiency anaemia owing to hypochlorhydria on the basis of KCNQ1 mutations. The resultant elevated gastrin level is a potential risk factor for later gastrointestinal cancer. Clinical monitoring with regard to developing anaemia and hypergastrinaemia should be considered in the Jervell and Lange-Nielsen Syndrome.

Keywords

GastrinKCNQ1 genemucosal hyperplasia/dysplasia
Type
Original Articles
Information
Cardiology in the Young , Volume 23 , Issue 3 , June 2013 , pp. 325 - 334
Copyright
Copyright © Cambridge University Press 2012 

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