Endocrine and metabolic disorders in patients with Gaucher disease type 1: a review

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Abstract

Background

Gaucher disease (GD) is one of the most prevalent lysosomal storage diseases and is associated with hormonal and metabolic abnormalities, including nutritional status disorders, hypermetabolic state with high resting energy expenditures, peripheral insulin resistance, hypoadiponectinaemia, leptin and ghrelin impairments, hypolipidaemia, linear growth deceleration and growth hormone deficiency, delayed puberty, hypocalcaemia and vitamin D deficiency. Specific treatments for GD such as enzyme replacement therapy and substrate reduction therapy display significant effects on the metabolic profile of GD patients.

Main body of the abstract

Hormonal and metabolic disturbances observed in both adult and paediatric patients with Gaucher disease type 1 (GD1) are discussed in this review. The PubMed database was used to identify articles on endocrine and metabolic disorders in GD1. GD1 appears to facilitate the development of disorders of nutrition, glucose metabolism and vitamin D insufficiency. Metabolic and hormonal diseases may have a significant impact on the course of the underlying disease and patient quality of life.

Conclusions

Conditions relating to hormones and metabolism can be wide-ranging in GD1. Obtained findings were intrinsic to GD either as a deleterious process or a compensatory response and some changes detected may represent co-morbidities. Actively seeking and diagnosing endocrine and metabolic disorders are strongly recommended in GD1 patients to optimize healthcare.

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Most cited references 84

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Hypoadiponectinemia in obesity and type 2 diabetes: close association with insulin resistance and hyperinsulinemia.

C Weyer, T. Funahashi, S. Tanaka … (2001)

Plasma concentrations of adiponectin, a novel adipose-specific protein with putative antiatherogenic and antiinflammatory effects, were found to be decreased in Japanese individuals with obesity, type 2 diabetes, and cardiovascular disease, conditions commonly associated with insulin resistance and hyperinsulinemia. To further characterize the relationship between adiponectinemia and adiposity, insulin sensitivity, insulinemia, and glucose tolerance, we measured plasma adiponectin concentrations, body composition (dual-energy x-ray absorptiometry), insulin sensitivity (M, hyperinsulinemic clamp), and glucose tolerance (75-g oral glucose tolerance test) in 23 Caucasians and 121 Pima Indians, a population with a high propensity for obesity and type 2 diabetes. Plasma adiponectin concentration was negatively correlated with percent body fat (r = -0.43), waist-to-thigh ratio (r = -0.46), fasting plasma insulin concentration (r = -0.63), and 2-h glucose concentration (r = -0.38), and positively correlated with M (r = 0.59) (all P < 0.001); all relations were evident in both ethnic groups. In a multivariate analysis, fasting plasma insulin concentration, M, and waist-to-thigh ratio, but not percent body fat or 2-h glucose concentration, were significant independent determinates of adiponectinemia, explaining 47% of the variance (r(2) = 0.47). Differences in adiponectinemia between Pima Indians and Caucasians (7.2 +/- 2.6 vs. 10.2 +/- 4.3 microg/ml, P < 0.0001) and between Pima Indians with normal, impaired, and diabetic glucose tolerance (7.5 +/- 2.7, 6.1 +/- 2.0, 5.5 +/- 1.6 microg/ml, P < 0.0001) remained significant after adjustment for adiposity, but not after additional adjustment for M or fasting insulin concentration. These results confirm that obesity and type 2 diabetes are associated with low plasma adiponectin concentrations in different ethnic groups and indicate that the degree of hypoadiponectinemia is more closely related to the degree of insulin resistance and hyperinsulinemia than to the degree of adiposity and glucose intolerance.

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Cardiovascular consequences of metabolic syndrome.

Johnathan D. Tune, Adam G. Goodwill, Daniel J. Sassoon … (2017)

The metabolic syndrome (MetS) is defined as the concurrence of obesity-associated cardiovascular risk factors including abdominal obesity, impaired glucose tolerance, hypertriglyceridemia, decreased HDL cholesterol, and/or hypertension. Earlier conceptualizations of the MetS focused on insulin resistance as a core feature, and it is clearly coincident with the above list of features. Each component of the MetS is an independent risk factor for cardiovascular disease and the combination of these risk factors elevates rates and severity of cardiovascular disease, related to a spectrum of cardiovascular conditions including microvascular dysfunction, coronary atherosclerosis and calcification, cardiac dysfunction, myocardial infarction, and heart failure. While advances in understanding the etiology and consequences of this complex disorder have been made, the underlying pathophysiological mechanisms remain incompletely understood, and it is unclear how these concurrent risk factors conspire to produce the variety of obesity-associated adverse cardiovascular diseases. In this review, we highlight current knowledge regarding the pathophysiological consequences of obesity and the MetS on cardiovascular function and disease, including considerations of potential physiological and molecular mechanisms that may contribute to these adverse outcomes.

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Phenotype, diagnosis, and treatment of Gaucher's disease.

T. Grabowski (2008)

Gaucher's disease continues to be a model for applications of molecular medicine to clinical delineation, diagnosis, and treatment. Analyses of several thousand affected individuals have broadened the range of the pan-ethnic disease variants, provided initial genotype and phenotype correlations, and established the effectiveness of enzyme therapy. Large numbers of affected individuals worldwide have provided insight into the effect of disease variation related to ethnic origin, prognosis, and outcome. The ability to safely and effectively use enzyme therapy to inhibit or reverse visceral-disease progression and involvement has provided impetus for design of new enzyme therapies, and creation of substrate depletion and pharmacological chaperone strategies. Such innovations could provide interventions that are effective for neuronopathic variants and, potentially, could be more cost effective than other treatments. These developments are novel, clinically important, advancements for patients with other lysosomal storage diseases and genetic diseases.

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Author and article information

Contributors

Małgorzata Kałużna:

ORCID: https://orcid.org/0000-0002-2116-4384

61 869 1330 , kaluznama@gmail.com

Journal

Journal ID (nlm-ta): Orphanet J Rare Dis

Journal ID (iso-abbrev): Orphanet J Rare Dis

Title: Orphanet Journal of Rare Diseases

Publisher: BioMed Central (London )

ISSN (Electronic): 1750-1172

Publication date (Electronic): 2 December 2019

Publication date PMC-release: 2 December 2019

Publication date Collection: 2019

Volume: 14

Electronic Location Identifier: 275

Affiliations

[1 ]Ward of Endocrinology, Metabolism and Internal Diseases Ward, Heliodor Swiecicki University Hospital, Poznan, Poland

[2 ]ISNI 0000 0001 2205 0971, GRID grid.22254.33, Department of Endocrinology Metabolism and Internal Diseases, , Poznan University of Medical Sciences, ; Poznan, Poland

[3 ]ISNI 0000 0001 2154 3176, GRID grid.13856.39, Medical Faculty, , University of Rzeszow, ; Rzeszow, Poland

[4 ]Department of Clinical Science and Education, Division of Internal Medicine, Södersjukhuset, Karolinska Institutet, Stockholm, Sweden

Author information

Małgorzata Kałużna https://orcid.org/0000-0002-2116-4384

Isabella Trzeciak https://orcid.org/0000-0003-2823-5402

Katarzyna Ziemnicka https://orcid.org/0000-0001-5377-8834

Maciej Machaczka https://orcid.org/0000-0001-7711-4127

Marek Ruchała https://orcid.org/0000-0002-6296-7220

Article

Publisher ID: 1211

DOI: 10.1186/s13023-019-1211-5

PMC ID: 6889605

PubMed ID: 31791361

SO-VID: 2f504b30-9998-45bd-ba59-5214b209e74c

License:

Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License ( http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver ( http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

History

Date received : 17 June 2019

Date accepted : 24 September 2019

Funding

Funded by: Sanofi (PL)

Award ID: Clinical basics of imaging, including Whole Body Magnetic Resonance Imaging in Gaucher disease

Award Recipient : Marek Ruchała

Custom metadata

ScienceOpen disciplines: Infectious disease & Microbiology

Keywords: gaucher disease (gd),obesity,malnutrition,insulin resistance,growth hormone deficiency,delayed puberty,leptin,adpionectin,dyslipidaemia,vitamin d deficiency

Data availability:

ScienceOpen disciplines: Infectious disease & Microbiology

Keywords: gaucher disease (gd), obesity, malnutrition, insulin resistance, growth hormone deficiency, delayed puberty, leptin, adpionectin, dyslipidaemia, vitamin d deficiency

Endocrine and metabolic disorders in patients with Gaucher disease type 1: a review

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Most cited references 84

Hypoadiponectinemia in obesity and type 2 diabetes: close association with insulin resistance and hyperinsulinemia.

Cardiovascular consequences of metabolic syndrome.

Phenotype, diagnosis, and treatment of Gaucher's disease.

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