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Endocrine Abstracts (2024) 99 EP282 | DOI: 10.1530/endoabs.99.EP282

ECE2024 Eposter Presentations Adrenal and Cardiovascular Endocrinology (155 abstracts)

Description of the x-linked adrenoleukodystrophy cohort from the csur unit of adult metabolic disorders at virgen del rocio university hospital (seville)

Lucía González Gracia , Elena Dios Fuentes , Rosa Benítez Ávila , Bothayna Oulad Ahmed , Alfonso Soto Moreno & Eva Venegas Moreno


Virgen del Rocío University Hospital, Sevilla, Spain


Introduction and Objective: X-linked adrenoleukodystrophy (X-ALD) is a rare disease caused by a mutation in the ABCD1 gene (Xq28). It is characterized by the absence of very long-chain fatty acids (VLCFAs) degradation, leading to their accumulation primarily in the central and peripheral nervous system, adrenal cortex, and gonads. It presents a variable clinical spectrum and prognosis. The aim of our study is to describe the characteristics of all X-ALD patients under follow-up at the Adult Inborn Errors of Metabolism Unit at Virgen del Rocio University Hospital (Seville).

Methods: Retrospective observational study. The following variables were collected: gender, current age and age at diagnosis, symptoms, age of symptom onset, and treatment (dietary, pharmacological, hematopoietic cell transplantation [HCT], and gene therapy). Quantitative variables are expressed as median [p25-p75], and qualitative variables as n(%).

Results: 21 patients. 10 (47.6%) were males. Patients had a median age of 39.2 [23.9-53.8] years and were diagnosed at a median age of 7.1 [21.3-50.13] years. The most frequent mutation was c.971G>A (p.Arg324His). Regarding males, 7 (70%) were diagnosed as index cases, and 8 (80%) were symptomatic, with a median onset of symptoms at 14.5 [4-50.5] years: 60% adrenal insufficiency, 30% cerebral involvement, 30% myeloneuropathy, and 10% gonadal insufficiency. Concerning females, 10 out of 11 (90.9%) were diagnosed due to having an affected family member, and 4 (36.3%) had symptoms, with a median onset at 45 [41.5-56] years: 27.2% myeloneuropathy, 9.1% premature ovarian failure, and 0% adrenal insufficiency. 81% had elevated VLCFAs at diagnosis (90% of males and 72.7% of females): C22 52 [28-65] µmol/l, C24 59 [41-67] µmol/l, C26 1.51 [0.86-2.12] µmol/l, C24/C22 1.24 [0.95-1.45], and C26/C22 0.029 [0.016-0.063]. Regarding treatment, 8 (38.1%) follow a saturated fat-restricted diet, 4 (19%) take Lorenzo’s oil, 6 (28.4%) hydrocortisone, 5 (23.8%) fludrocortisone, and 1 (4.8%) testosterone. One male underwent HCT, and another received gene therapy, with clinical stability of cerebral lesions in both patients. There was 1 death of a male during follow-up.

Conclusions: In our cohort, adrenal insufficiency is the most frequent symptom in males, and a high percentage of females exhibit some symptoms. Communicating data from X-ALD patient series is essential to understand the clinical spectrum of the disease and the true prevalence of symptomatic females.

Volume 99

26th European Congress of Endocrinology

Stockholm, Sweden
11 May 2024 - 14 May 2024

European Society of Endocrinology 

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