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Table 6 Studies assessing thyroid hormone status and thyroid cancer in adult GD1 patients

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

Author (year)

Study population

Main findings

Langeveld et al., 2007 [66]

22 adult GD1 patients, assessed before and during ERT

Normal thyroid hormone levels in 77% patients at baseline.

No correlations between serum levels of: 3,3′,5-triiodo-l-thyronine (T3), free thyroxine (fT4), 3,3′,5′-triiodo-l-thyronine (rT3) and baseline REE (kcal/kg per 24 h).

A decrease in fT4 and REE during ERT. No correlation between decrease in fT4 and T(3) and changes in REE.

Lo et al., 2010 [76]

403 adult GD1 patients, treated and untreated

Two cases of papillary thyroid carcinoma concomitant with haematological malignancies in splenectomised subjects.

  1. ERT enzyme replacement therapy; fT4 free thyroxine, GD1 Gaucher disease type 1; REE resting energy expenditure; rT3–3,3′,5′ triiodo-l-thyronine; SRT substrate reduction therapy