Lorenzo's oil and platelet activation in adrenomyeloneuropathy and asymptomatic X-linked adrenoleukodystrophy.

[adrenomyeloneuropathy]

X-linked adrenoleukodystrophy (X-ALD ) is an inherited disorder of peroxisomal beta -oxidation , which results in accumulation of very long -chain fatty acids , causing damage to the nervous system , adrenal cortex and testis . The two most frequent phenotypes are childhood cerebral adrenoleukodystrophy (CCALD ) and adrenomyeloneuropathy (AMN ). Some affected males demonstrate no clinical signs (asymptomatic ALD ), whereas female carriers can also be affected . Patients with X-ALD have been treated with Lorenzo 's oil , a 4 :1 combination of oleic acid and erucic acid , with thrombocytopenia as the main side effect and sometimes leading to a hemorrhagic diathesis . We studied platelet count , size and membrane surface exposure of platelet activation antigens in 17 adult X-ALD patients . Eight patients used the prescribed amount of erucic acid (as glyceroltrierucate ) or more (very compliant ), five used less (compliant ), and four did not use the diet . All eight very compliant patients had highly enlarged platelets and seven manifested thrombocytopenia . An enhanced in vivo platelet activation status was established by increased platelet surface expression of P-selectin (CD 6 2 P , PADGEM , GMP-140 ) in five of the seven thrombocytopenic patients , and of increased fibrinogen receptor exposure (measured with the antibody PAC-1 ) in three of these five patients . The other nine compliant or untreated patients had normal platelet counts and , generally , normal P-selection and fibrinogen receptor expression . A diet-induced 7 - to 27 -fold enrichment of erucic acid was observed in the platelets of the four patients studied . We conclude that the thrombocytopenia in AMN patients using Lorenzo 'soil is associated with circulating platelets that have an increased erucic acid content , size and activation status . We hypothesize that the erucic acid in some way induces the increased size and thus , directly or indirectly , increased platelet activation or instability in vivo . This then causes the thrombocytopenia , with circulating platelets representing a population that has not yet been sufficiently changed to be removed , but has clear signs of activation .

Diseases
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Diseases presenting "sometimes leading to a hemorrhagic diathesis" symptom

adrenomyeloneuropathy

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