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

Orphanet J Rare Dis. 2019 Dec 2;14(1):275. doi: 10.1186/s13023-019-1211-5.

PMID: 31791361

Małgorzata Kałużna, Isabella Trzeciak, Katarzyna Ziemnicka, Maciej Machaczka, Marek Ruchała

Summary: Gaucher disease (GD) is associated to a variety of hormonal and metabolic abnormalities, like nutritional problems, glucose metabolism disorders, and vitamin D deficiency. In order to improve healthcare for GD1 patients, it is necessary to actively search for and diagnose endocrine and metabolic disorders.

Abstract

Background: Gaucher disease (GD) is one of the most common lysosomal storage diseases, and it is associated to a variety of hormonal and metabolic abnormalities, including nutritional deficiencies, hypermetabolic states with high resting energy expenditures, peripheral insulin resistance, hypoadiponectinemia, leptin and ghrelin impairments, hypolipidemia, linear growth deceleration, and growth hormone deficiency, delayed puberty, hypocalcaemia and vitamin D deficiency. Specific treatments like enzyme replacement therapy and substrate reduction therapy, have a major impact on the metabolic profile of GD patients.

Main body of the abstract: This review discusses the hormonal and metabolic changes that both adult and paediatric patients with Gaucher disease type 1 (GD1) experience. Articles on endocrine and metabolic diseases in GD1 were found using the PubMed database. Nutritional problems, glucose metabolism disorders, and vitamin D deficiency appear to be facilitated by GD1. The progress of the underlying disease and the patient's quality of life may be affected dramatically by metabolic and hormonal disorders.

Conclusions: In GD1, hormone and metabolic problems can manifest in a variety of ways. Obtained findings were all related to GD, either as a harmful process or a compensatory response, and several of the changes found could be co-morbidities. In order to improve healthcare for GD1 patients, it is necessary to actively search for and diagnose endocrine and metabolic disorders.

Keywords: Adiponectin; Delayed puberty; Dyslipidaemia; Gaucher disease (GD); Growth hormone deficiency; Insulin resistance; Leptin; Malnutrition; Obesity; Vitamin D deficiency.