Familial chylomicronemia syndrome

被引：28

作者：

Sugandhan, Selvendran ^{[1
]}

Khandpur, Sujay ^{[1
]}

Sharma, Vinod K. ^{[1
]}

机构：

[1] All India Inst Med Sci, Dept Dermatol & Venerol, New Delhi 110029, India

来源：

PEDIATRIC DERMATOLOGY | 2007年 / 24卷 / 03期

关键词：

D O I：

10.1111/j.1525-1470.2007.00415.x

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

Familial chylomicronemia syndrome is a rare disorder of lipoprotein metabolism due to familial lipoprotein lipase (LPL) or apolipoprotein C-II deficiency or the presence of inhibitors to lipoprotein lipase. It manifests as eruptive xanthomas, acute pancreatitis, and lipaemic plasma due to marked elevation of triglyceride and chylomicron levels. We report two siblings with this rare disorder and review the literature.

引用

页码：323 / 325

页数：4

共 50 条

[41] Drug Therapy for Hypertriglyceridemia and Familial Chylomicronemia Syndrome: Focus on Volnesorsen
Gesner, Matthew
Frishman, William H.
[J]. CARDIOLOGY IN REVIEW, 2023, 31 (06) : 325 - 329
[42] SPECTRUM OF FAMILIAL CHYLOMICRONEMIA SYNDROME IN TWO CHILDREN FROM PAKISTAN
Khan, Sabeen Abid
Malik, Munir
Sadiq, Fouzia
[J]. ATHEROSCLEROSIS, 2024, 395
[43] Apolipoprotein C-III, familial chylomicronemia syndrome, and olezarsen
Valdivielso, Pedro
Prieto, Inmaculada Coca
[J]. MED, 2024, 5 (06): : 493 - 494
[44] An interesting case of familial chylomicronemia syndrome in a cleft palate child
Adenwalla, H. S.
Narayanan, P. V.
Rajshree, C. J.
Santhakumar, Rati
[J]. INDIAN JOURNAL OF PLASTIC SURGERY, 2008, 41 (01) : 70 - 72
[45] Development of a novel PRO instrument for use in familial chylomicronemia syndrome
Davidson, David
Slota, Christina
Vera-Llonch, Montserrat
Brown, T. Michelle
Hsieh, Andrew
Fehnel, Sheri
[J]. JOURNAL OF PATIENT-REPORTED OUTCOMES, 2021, 5 (01)
[46] Familial Chylomicronemia Syndrome (FCS): Recent Data on Diagnosis and Treatment
Antonio Gallo
Sophie Béliard
Laura D’Erasmo
Eric Bruckert
[J]. Current Atherosclerosis Reports, 2020, 22
[47] Familial chylomicronemia syndrome: a novel mutation in the lipoprotein lipase gene
Van Biervliet, S.
Vande Velde, S.
De Bruyne, P.
Callewaert, B.
Verloo, P.
De Bruyne, R.
[J]. ACTA GASTRO-ENTEROLOGICA BELGICA, 2024, 87 (02) : 326 - 328
[48] Brazilian Position Statement for Familial Chylomicronemia Syndrome-2023
de Oliveira Izar, Maria Cristina
dos Santos Filho, Raul Dias
Vieira Assad, Marcelo Heitor
Palandri Chagas, Antonio Carlos
Toledo Junior, Alceu de Oliveira
Cavalcante Nogueira, Ana Claudia
Carneiro Fernandes Souto, Ana Cristina
Pitta Lottenberg, Ana Maria
Marte Chacra, Ana Paula
dos Santos Ferreira, Carlos Eduardo
Lourenco, Charles Marques
Valerio, Cynthia Melissa
Cintra, Dennys Esper
Helfenstein Fonseca, Francisco Antonio
Campana, Gustavo Aguiar
Bianco, Henrique Tria
de Lima, Josivan Gomes
Costa Gurgel Castelo, Maria Helane
Scartezini, Marileia
Moretti, Miguel Antonio
Fraife Barreto, Natasha Slhessarenko
Maia, Rayana Elias
Montenegro Junior, Renan Magalhaes
Alves, Renato Jorge
Machado Figueiredo, Roberta Marcondes
Fock, Rodrigo Ambrosio
da Rocha Martinez, Tania Leme
[J]. ARQUIVOS BRASILEIROS DE CARDIOLOGIA, 2023, 120 (04)
[49] Building a better understanding of the burden of disease in familial chylomicronemia syndrome
Ahmad, Zahid
Halter, Rob
Stevenson, Michael
[J]. EXPERT REVIEW OF CLINICAL PHARMACOLOGY, 2017, 10 (01) : 1 - 3
[50] Disappearance of recurrent pancreatitis after splenectomy in familial chylomicronemia syndrome
Marco-Benedi, Victoria
Lamiquiz-Moneo, Itziar
Alvarez-Sala, Luis A.
Civeira, Fernando
[J]. ATHEROSCLEROSIS, 2018, 275 : 342 - 345

← 1 2 3 4 5 →