Abstract:
:Phytosterolaemia (sitosterolaemia) is a recessively inherited metabolic condition in which the absorption of both cholesterol and plant-derived cholesterol-like molecules at the gut is unselective and unrestricted. In haematology, Mediterranean stomatocytosis or Mediterranean macrothrombocytopenia is a poorly understood haematological condition that combines stomatocytic haemolysis with the presence of very large platelets. Five pedigrees showing this haematology were identified. Gas chromatography mass spectrometry (GC-MS) showed that all of the patients with this highly specific haematology had grossly elevated levels of phytosterols in the blood, diagnostic of phytosterolaemia. All showed mutations in the ABCG5 and ABCG8 previously linked to phytosterolaemia. Three pedigrees showed five new mutations, while two pedigrees showed the common W361X mutation in ABCG8. We draw the following four conclusions: (i) that Mediterranean stomatocytosis/macrothrombocytopenia is caused by an excess of phytosterols in the blood; (ii) that phytosterolaemia, which does not respond to standard statin treatment, can be diagnosed via the distinctive haematology described here, even when the cholesterol is normal; (iii) that phytosterolaemia should be considered in the differential diagnosis of all patients with large platelets; and (iv) that the platelet size should be noted in patients with hypercholesterolaemia.
journal_name
Br J Haematoljournal_title
British journal of haematologyauthors
Rees DC,Iolascon A,Carella M,O'marcaigh AS,Kendra JR,Jowitt SN,Wales JK,Vora A,Makris M,Manning N,Nicolaou A,Fisher J,Mann A,Machin SJ,Clayton PT,Gasparini P,Stewart GWdoi
10.1111/j.1365-2141.2005.05599.xsubject
Has Abstractpub_date
2005-07-01 00:00:00pages
297-309issue
2eissn
0007-1048issn
1365-2141pii
BJH5599journal_volume
130pub_type
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