Generic selectors
Exact matches only
Search in title
Search in content
Search in posts
Search in pages
Filter by Categories
15th National Conference of the IAOMFP, Chennai, 2006
Abstract
Abstracts from current literature
Acne in India: Guidelines for management - IAA Consensus Document
Addendum
Announcement
Art & Psychiatry
Article
Articles
Association Activities
Association Notes
Award Article
Book Review
Brief Report
Case Analysis
Case Letter
Case Letters
Case Notes
Case Report
Case Reports
Clinical and Laboratory Investigations
Clinical Article
Clinical Studies
Clinical Study
Commentary
Conference Oration
Conference Summary
Continuing Medical Education
Correspondence
Corrigendum
Cosmetic Dermatology
Cosmetology
Current Best Evidence
Current View
Derma Quest
Dermato Surgery
Dermatopathology
Dermatosurgery Specials
Dispensing Pearl
Do you know?
Drug Dialogues
e-IJDVL
Editor Speaks
Editorial
Editorial Remarks
Editorial Report
Editorial Report - 2007
Editorial report for 2004-2005
Errata
Erratum
Focus
Fourth All India Conference Programme
From Our Book Shelf
From the Desk of Chief Editor
General
Get Set for Net
Get set for the net
Guest Article
Guest Editorial
History
How I Manage?
IADVL Announcement
IADVL Announcements
IJDVL Awards
IJDVL AWARDS 2015
IJDVL Awards 2018
IJDVL Awards 2019
IJDVL International Awards 2018
Images in Clinical Practice
In Memorium
Inaugural Address
Index
Knowledge From World Contemporaries
Leprosy Section
Letter in Response to Previous Publication
Letter to Editor
Letter to the Editor
Letter to the Editor - Case Letter
Letter to the Editor - Letter in Response to Published Article
LETTER TO THE EDITOR - LETTERS IN RESPONSE TO PUBLISHED ARTICLES
Letter to the Editor - Observation Letter
Letter to the Editor - Study Letter
Letter to the Editor - Therapy Letter
Letter to the Editor: Articles in Response to Previously Published Articles
Letters to the Editor
Letters to the Editor - Letter in Response to Previously Published Articles
Letters to the Editor: Case Letters
Letters to the Editor: Letters in Response to Previously Published Articles
Medicolegal Window
Messages
Miscellaneous Letter
Musings
Net Case
Net case report
Net Image
Net Letter
Net Quiz
Net Study
New Preparations
News
News & Views
Obituary
Observation Letter
Observation Letters
Oration
Original Article
ORIGINAL CONTRIBUTION
Original Contributions
Pattern of Skin Diseases
Pearls
Pediatric Dermatology
Pediatric Rounds
Perspective
Presedential Address
Presidential Address
Presidents Remarks
Quiz
Recommendations
Regret
Report
Report of chief editor
Report of Hon : Treasurer IADVL
Report of Hon. General Secretary IADVL
Research Methdology
Research Methodology
Resident page
Resident's Page
Resident’s Page
Residents' Corner
Residents' Corner
Residents' Page
Retraction
Review
Review Article
Review Articles
Revision Corner
Self Assessment Programme
SEMINAR
Seminar: Chronic Arsenicosis in India
Seminar: HIV Infection
Short Communication
Short Communications
Short Report
Special Article
Specialty Interface
Studies
Study Letter
Supplement-Photoprotection
Supplement-Psoriasis
Symposium - Contact Dermatitis
Symposium - Lasers
Symposium - Pediatric Dermatoses
Symposium - Psoriasis
Symposium - Vesicobullous Disorders
SYMPOSIUM - VITILIGO
Symposium Aesthetic Surgery
Symposium Dermatopathology
Symposium-Hair Disorders
Symposium-Nails Part I
Symposium-Nails-Part II
Tables
Technology
Therapeutic Guidelines
Therapeutic Guidelines - IADVL
Therapeutics
Therapy
Therapy Letter
View Point
Viewpoint
What’s new in Dermatology
View/Download PDF
Letter To Editor
2001:67:4;219-219
PMID: 17664753

Familial hypercholesterolemia

Koushik Lahiri, Bhabesh Chandra Lahiri
 P-42 CIT SCH.IV M, Kolkatta-700010, India

Correspondence Address:
Koushik Lahiri
P-42 CIT SCH.IV M, Kolkatta-700010
India
How to cite this article:
Lahiri K, Lahiri B. Familial hypercholesterolemia. Indian J Dermatol Venereol Leprol 2001;67:219
Copyright: (C)2001 Indian Journal of Dermatology, Venereology, and Leprology

To the Editor,

This is in reference to the recently published letter on homozygous familial hypercholesterolemia.[1]

Last year we came across a case of homozygous hypercholesterolemia with cutaneous and tendinous xanthoma in a seven year old male child.[2] At the time of reporting we could not examine other members of his family. Later on we managed to take a detailed family history and had the chance of examining some other members of his family.

The case we reported was a seven-year-old male child, born of a consanguineous marriage (where his father married one of his maternal sister), presented with multiple asymptomatic, yellowish, papular and papulo-nodular lesions over his knees, elbows and buttocks. Tuberous lesions on buttocks, tendinous lesions on extensor tendons of hands and xanthelasma palpebrarum on inner canthus of eyes were also present.

The child was of normal built with mild mental retardation. He was found to be euglycemic with moderate eosinophilia (736/cmm), serum triglyceride level was 70%mg, cholesterol 730mg% with LDL-C 688mg%,HDL-C 28mg% and VLDL-C 14mg% respectively.

We went on compiling data on other members of his family. It was found that, his grandmother had papular lesion on inner canthus of both her eyes. She had hypertension and died of acute myocardial infarction at the age of forty-two. She was married to her cousin brother. This marriage produced six offsprings (3 male, 3 female).The third one was a male who suddenly died three years back due to a possible (VA at the age of 26 years. He also had some skin xanthoma-like lesions.

The fifth one, also a male, has got tendinous and tuberous xanthoma with cholesterol level 355mg%, LDL 322 mg%, VLDL 16mg% and HDL 25mg% at the age of twenty eight. His parents are without any symptoms.

Primary hypercholesterolemia usually occurs as a monogenic defect in lipoprotein catabolism by a mutation in the gene for the LDL receptor. The rate at which the LDL is removed from the plasma is determined by the heterozygous or the homozygous state of the individual.[3],[4] In heterozygous state it is removed at two third of normal rate resulting in two to three fold elevation in plasma LDL (Case C). But in homozygous state, LDL is removed at only one third of normal rate and that results in six to eight fold elevation of plasma LDL[3],[4] (Case D). Heterozygous hypercholesterolemia is not that uncommon (1 in 500 persons), clinically manifesting between third and sixth decades. But only one in one million persons in general population inherit two copies of familial hypercholesterolemia gene and is a homozygote for the disorder.[4]

This family has one distinct homozygous (Case D), one heterozygous (Case C) and other two(Cases A and B) of possible heterozygous hypercholesterolemia.

Even though this is rare but marriage between cousin brothers and sisters, over two successive generations invited this disastrous consequence in this family.

References
1.
Somwanshi PR, Agarwal SN. Homozygous familial hypercholesterolemia. Indian J Dermatol Venereol Leprol 2000;66:331-332.
[Google Scholar]
2.
Lahiri Bhabesh Chandra, Lahiri Kcushik. Homozygous hypercholesterolemia with cutaneous and tendinous xanthoma in a child. Indian J Dermatol 2000;45: 205-207.
[Google Scholar]
3.
Parker F Disorders of metabolism. In: Dermatology. 3rd ed, Vol.2, Moschella SL, Hurley HJ eds. Philadelphia: WB Saunders Company, 1992;1653.
[Google Scholar]
4.
Brown MS, Goldstein JL. The hyperlipoproteinemia and other disorders of lipid metabolism. In Harrison's Principles of Internal Medicine. 12th ed,Vol.2, Wilson JD, Braunwald E, Isselbacher KJ, Petersdorf RG, Martin JB, Fauci AS, Root RK eds. New York: Mc Graw-Hill, 1992;1820.
[Google Scholar]

Fulltext Views
23

PDF downloads
9
Show Sections