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sitosterolemia?

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hudgins
hudgins's picture
sitosterolemia?

Dear Friends,
 
I have a consult to run by you. A colleague of mine was following an infant for PPS and noticed xanthomas and subsequently ran a series of lipid profiles on him.  I saw him in November (17 months old then).
His labs are the following- they switched from whole to fat free milk in March 2015. I also included a few pictures.

 How would you recommend I work this child up

Thank you!
Seda Tierney, MD
Assistant Professor,
Stanford University

3/15/15
Total cholesterol: 165 mg/dL
TG: 239 mg/dL
HDL: 22 mg/dL
LDL: 95 mg/dl
Calculated VLDL: 48 mg/dL

7/7/15
Total cholesterol: 150 mg/dL
TG: 84 mg/dL

9/21/2015
Total cholesterol: 141 mg/dL (ref 140-200)
TG: 131 mg/dL (ref 0-150)
HDL: 35 mg/dL
LDL: 80 mg/dl
GGT: 9 (ref 2-15 U/L)
(pictures of xanthomas) 20151024_104511.jpeg20151024_104516.jpeg20151024_104532.jpeg

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hudgins
hudgins's picture
May have sitosterolemia,

May have sitosterolemia, check plant sterol levels in the blood. Can treat with xetia if high

Sam Gidding

hudgins
hudgins's picture
This is not the typical site

This is not the typical site for xanthomas.
Few years ago I had a patient with similar lesion, dermatology got a biopsy and the patient was diagnosed with langerhans cell histiocytosis. You might consider dermatology referral.
Thanks
Ashraf
 
Ashraf Harahsheh, M.D., F.A.C.C., F.A.A.P.
Preventive Cardiologist
Assistant Professor - Pediatric Cardiology
George Washington University
Director, Resident Education in the Cardiology Department
Center for Heart, Lung and Kidney Disease

Children's National Health System
111 Michigan Ave, N.W.
Washington, DC 20010
Phone: 202 476 2020
Fax: 202 476 5700
Pager: 202 259 0129
Email: aharahsh@childrensnational.org
 

hudgins
hudgins's picture
Agree they don’t look like

Agree they don’t look like xanthoma to me and they are not on extensor surfaces so derm/biopsy makes sense to me. Agree with sam also can send sitosterol, campesterol for sitosterolemia.
 
Sarah De Ferranti

hudgins
hudgins's picture
Thank you, Sarah, Sam and

Thank you, Sarah, Sam and Ashraf. They were seen by dermatology who told the family he did not need to do a biopsy since he was 100% sure these were xanthomas.

I will suggest another derm referral and send sitosterol and compesterol levels. I have never sent these labs before. I will have to figure it out.

Thank you again

Seda

hudgins
hudgins's picture
Agree, not typical for

Agree, not typical for xanthomas, but I have seen them in some pts on other than extensor surfaces.
I think biopsy is a reasonable choice.
Julia

Julia Steinberger, MD, MS
Dwan Chair, Professor and Director
Pediatric Cardiology
University of Minnesota Masonic Children's Hospital
2450 Riverside Avenue
East Building MB559
Minneapolis, MN 55454
Telephone: 612-626-2755
Fax: 612-626-2467
stein055@umn.edu

 

hudgins
hudgins's picture
I agree with Sarah and Julia.

I agree with Sarah and Julia.
 
I have a patient with sitosterolemia and I have had to get plant sterol levels as a "send out"  for "Sterols, Plasma" through Mayo clinic, Test Code 82079.
 
I hope this helps.
 
Julie Brothers

hudgins
hudgins's picture
Seda, in my experience

Seda, in my experience xanthomas mostly occur on extensor tendons and are pale yellow to white in color.
I have seen some nontedinous locations but never without LDL-C over 200. I agree that a dermatologist consult would be indicated.

Marc Jacobson

hudgins
hudgins's picture
Seda,

Seda,
It is probably ok to do plant sterol levels but it seems unlikely they will be elevated.
Meanwhile, a biopsy is critical because the appearance is so atypical (mainly red, little or no yellow as best I can see).
 
The one most striking finding in the lipid panel is an HDL-C roughly half-normal, although rising. There is some reciprocal association with TG, but it looks to me like the HDL deficiency is primary.
I would definitely get lipids in family members to see if there is a pattern and to check for physical manifestations (xanthomas, other lipid abnormalities, CVD).
In addition, I would consider contacting a group that will genotype rare cases like this, often for free. The two that come to mind are Ernie Schaefer in Boston and Rob Hegele at the Robarts institute in Ontario, Canada.
 
Also, why the change in lipid levels from March to September?
 
Eliot Brinton

hudgins
hudgins's picture
Molluscum?

Molluscum?

--
Aaron Turkish, M.D.
Assistant Professor of Clinical Pediatrics
New York Presbyterian Queens
Weill-Cornell Medical College
Pediatric Gastroenterology, Hepatology & Nutrition

hudgins
hudgins's picture
Oh boy, that did not come to

Oh boy, that did not come to my mind. That is very contagious, isn’t it? This patient was seen by derm though-I would hope they would have recognized it...

Seda Tierney

hudgins
hudgins's picture
Dear Seda,

Dear Seda,
I agree that they might not be xanthomas, and a biopsy is indicated.  If they are xanthomas, you can contact Ernst Schaefer by cell (781-258-1454) to obtain plant sterol levels.  If elevated, he can coordinate gene sequencing for ABCG5/8 by Hegele’s lab.

 

Lisa Cooper Hudgins M.D.
Associate Professor of Pediatrics in Medicine
The Rogosin Institute/ Weill Cornell Medical College

phone 646-317-0805, fax 646-317-0820
lih2013@nyp.org
310 E. 67th Street
NY, NY 10021

asusekov
asusekov's picture
Dear Seda, re: sitosterolaemia

Dear Seda,

My name is Andrey V Susekov, Consultant-Lipidologist from Russia, NLA member

I have two (1 confirmed, 1 suspected cases of beta-sitosterolaemia) One - 10 years old boy with initial total cholesterol of 344 mg/dl and very high levels of campesterol and sitosterol (see PDF slides) . He found ABCG8 mutation W361{ (thanks to Prof J Defesche, the Netherlands). This boy has been treated with zetia 10 mg/day and now we consider increase ezetemib to 20 mg/day.Before treatment he has tendency to light aneamia (often seen in beta-sito, because sterols goes to erytrocytes membrance and make them fragile). These patients also tend to have low platelet count. Anoher case -2 years  old girl  Maria (see last slide) she has orange xanthomata anf her cholesterol varies a lot ( from 428 mg/dl to 232 mg/dl) , parents both have normal lipids. I also suspect beta-sito and expect DNA test soon (in august).

Case 1: Hyperlipidaemia  since 2 years old, max cholesterol 30 mmol/l (Xanthomatosis: 1 year 4 months  (disappeared in 3 years)

No family history of hypercholesterolaemia and CHD Total cholesterol: mother  4.7 mmol/l, father-6.2 mmol/l (normal), grandmother -6.8 mmol/l, grandfather-5.9 mmol/l; NO CHD.On examination: Height: 124 sm, weight: 25 kg, No signs of familial hypercholesterolaemia: Carotid ultrasound: stenosis 25% in right subclavial artery. Lab tests:(before treatment):Total cholesterol: 8.88 mmol/l ( 344 mg/dl),

LDL-C: 7.20 mmol/l ( 279 mg/dl);  HDL-C-1.33 mmol/l (  51.6 mg/dl)  trigs- 0.77 mmol/l (68 mg/dl); apo A1 - 138 mg/dl; apo B 147 g/dl.

Campesterol  -204; mkmol/l  Sitosterol     -344.8 mkmol/l   (both-normal<3 mkmol/l). DNA test: ABCG8: W361X (Prof Joep Defesche, AMC, the Netherlands)    Search of other mutations is still  underway.RX:   Ezetimibe 10 mg/day, 2 years treatment.Last results (2016):

total cholesterol - 209  mg/dl, trigs- 66 mg/dl, HDL-C- 46 mg/dl, LDL-C- 150 mg/dl. Ezetemibe ⇒20 mg/day?

There are  only few patients (about 80)  worlwide who have this very rare lipid disorder, therefore it is great to share our experience!

All the best, Andrey . My e-mail is asus99@mail.ru

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