Progression of abnormalities in adrenomyeloneuropathy and neurologically asymptomatic X-linked adrenoleukodystrophy despite treatment with “Lorenzo’s oil”
- B M van Geela,
- J Assiesb,
- E B Haverkortc,
- J H T M Koelmand,
- B Verbeeten, Jre,
- R J A Wandersf,
- P G Barth on behalf of the Dutch X-ALD/AMN Study Groupg
- aDepartment of Neurology, bDepartments of Internal Medicine and Psychiatry, cDepartment of Dietetics, dDepartment of Neurology, Division of Clinical Neurophysiology, eDepartment of Radiology, fDepartment of Biochemistry, gDepartments of Pediatrics and Neurology, Academic Medical Center, University of Amsterdam, Amsterdam, the Netherlands
- Dr B M van Geel, Academic Medical Center, University of Amsterdam, Department of Neurology, PO Box 22700, 1100 DE Amsterdam, the Netherlands. Telephone 0031 20 5663842; fax 0031 20 6971438; emailb.m.vangeel{at}amc.uva.nl.
- Received 29 September 1998
- Revised 28 January 1999
- Accepted 4 February 1999
Abstract
OBJECTIVES X-linked adrenoleukodystrophy (X-ALD) is an inherited disorder of peroxisomal fatty acid oxidation, biochemically characterised by the accumulation of saturated very long chain fatty acids (VLCFAs), particularly hexacosanoic acid (C26:0). Dietary treatment with a 4:1 mixture of glyceroltrioleate and glyceroltrierucate (“Lorenzo’s oil”) normalises plasma VLCFA concentrations, but neither ameliorates nor arrests the rapid progression of neurological symptoms in the cerebral variants of X-ALD. The efficacy of “Lorenzo’s oil” in the milder phenotypes of X-ALD was assessed, as this has been much less investigated.
METHODS Twenty two patients who were treated with “Lorenzo’s oil” for at least 12 months for a median period of 2.5 (range 1.0–6.0) years were studied. Two had asymptomatic ALD, four the “Addison only” variant, 13 adrenomyeloneuropathy (AMN), and three were symptomatic female carriers.
RESULTS The plasma C26:0 concentration normalised or near normalised in 19 patients (86%), in the three others it decreased significantly. Nevertheless, disability as measured with the extended disability status scale score increased mildly (0.5 (95% confidence interval (95% CI) 0.25–1.0)) in the 16 patients with neurological symptoms. Furthermore, one “Addison only” patient and one patient with AMN developed cerebral demyelination, and another “Addison only” patient developed AMN. Adrenocortical insufficiency evolved in one patient with AMN, and hypogonadism in one patient with asymptomatic ALD and two patients with AMN. Nerve conduction, evoked potential studies (SEP, BAEP, VEP), and abnormalities on cerebral MRI did not improve. On the other hand, side effects were often noted—namely, mild increases in liver enzymes (55%), thrombocytopenia (55%), gastrointestinal complaints (14%), and gingivitis (14%). We also found a mild decrease in haemoglobin concentration and leucocyte count.
CONCLUSIONS The data suggest that treatment with “Lorenzo’s oil” neither improved neurological or endocrine function nor arrested progression of the disease. Furthermore, the oil often induced adverse effects. Therefore, it is advocated that “Lorenzo’s oil” should not be prescribed routinely to patients with X-ALD who already have neurological deficits.
