I have been asked to look at a lipoprotein electrophoresis pattern in a
patient who may have ichthyosis due to steroid sulphatase deficiency. The
beta lipoproteins are supposed to have increased mobility. The pattern
attached shows the patient (in lanes 4 and 5) to have normal beta
lipoprotein mobility as far as I can see. Would anyone with experience in
this area care to comment?
I did find an article in German which says that rarely lipoprotein
electrophoresis may be normal.
: Hautarzt 1986 Apr;37(4):205-9
[Biochemical diagnosis of X chromosomal ichthyosis]
[Article in German]
Meyer JC, Gilardi S.
Steroid sulfatase (STS) and aryl sulfatase C (ASC) in leucocytes, as well
as the
electrophoretic mobility of the beta-lipoproteins, were analyzed in 34
patients
with autosomal dominant ichthyosis (ADI), 18 patients with X-linked
recessive
ichthyosis (XRI), 7 patients with congenital nonbullous ichthyosis (CNBI),
and
48 controls. The geometric means of both STS and ASC were significantly
lower in
the group of XRI by a factor of approximately 10. Analysis of ASC showed a
clear
separation of the whole group of XRI patients opposed to patients with ADI
and
CNBI and the controls, whereas an overlapping was observed for STS. With
one
exception, the clinical and biochemical diagnosis (sulfatase) was confirmed
by
the results of the lipoprotein electrophoresis (LPE). This case, clinically
and
biochemically diagnosed as XRI, exhibited normal electrophoretic mobility
of
beta-lipoproteins. We conclude: if the electrophoretic mobility of
beta-lipoproteins is enhanced, XRI can be diagnosed; if the LPE is normal,
XRI
cannot be excluded; in this case, the diagnosis of XRI can be confirmed or
rejected by analysis of the microsomal sulfatases.
PMID: 3457782 [PubMed - indexed for MEDLINE]
I suggested that leucocytes be collected for steroid sulfatase assay but if
the patient is referred privately they will be billed for the assay and
they can't afford to pay. They need to be referred from a public hospital
dermatology clinic to avoid having to pay.
I would be grateful for any assistance.
The attached jpg file is an image of the lipo electrophoresis gel. Lanes
2&3 are a patient with elevated LDL and VLDL and lanes 4&5 are the patient
in question.
(See attached file: Lipo.jpg)
****************************************
Bruce Campbell FRCPA FAACB
Sullivan Nicolaides Pathology
Ph 61 (0)7 3377 8672
Fax 61 (0)7 3870 5989
Email [log in to unmask]
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