PMID- 27578108
OWN - NLM
STAT- MEDLINE
DCOM- 20171009
LR  - 20180922
IS  - 1933-2874 (Print)
IS  - 1876-4789 (Linking)
VI  - 10
IP  - 4
DP  - 2016 Jul-Aug
TI  - Management of homozygous familial hypercholesterolemia in real-world clinical 
      practice: A report of 7 Italian patients treated in Rome with lomitapide and 
      lipoprotein apheresis.
PG  - 782-789
LID - S1933-2874(15)30103-3 [pii]
LID - 10.1016/j.jacl.2016.02.009 [doi]
AB  - BACKGROUND: Homozygous familial hypercholesterolemia (HoFH) is a rare, 
      genetically determined condition of highly elevated low-density lipoprotein 
      cholesterol (LDLC) levels. If untreated, patients do not typically survive beyond 
      the second decade of life. Traditional lipid-lowering therapies (statins and 
      ezetimibe) are largely ineffective in HoFH patients, and extracorporeal 
      lipoprotein apheresis (LA) forms the mainstay of treatment. Lomitapide is a 
      microsomal triglyceride transfer protein inhibitor approved for the treatment of 
      HoFH as an adjunct to LA. We undertook to examine the efficacy and safety of 
      lomitapide in 7 HoFH patients treated with LA in the Lipid Clinic and Therapeutic 
      Apheresis Unit in Rome, Italy outside a clinical trial setting. METHODS: Seven 
      patients with genetically determined HoFH were treated with lomitapide in the 
      normal course of their therapy. All patients received LA either weekly or 
      biweekly. Lomitapide was administered according to the approved European Union 
      prescribing information. LDLC levels, liver enzymes, and hepatic fat were 
      monitored. Length of follow-up varied between 12 and 50 weeks. RESULTS: After 
      titration, lomitapide doses ranged from 10 to 30 mg/d for most (5/7) patients. 
      One patient received lomitapide 60 mg/d and another 5 mg/d. Three patients 
      achieved LDLC reductions of >50%. The patient on the lowest lomitapide dose did 
      not gain significant benefit. Gastrointestinal adverse events (AEs) were managed 
      via alterations to dietary fat intake. CONCLUSION: Lomitapide is an effective 
      adjunct to LA in patients with HoFH. AEs are manageable; gastrointestinal AEs can 
      be managed with a low-fat eating plan.
CI  - Copyright (c) 2016 National Lipid Association. Published by Elsevier Inc. All 
      rights reserved.
FAU - Stefanutti, Claudia
AU  - Stefanutti C
AD  - Extracorporeal Therapeutic Techniques Unit, Lipid Clinic and Atherosclerosis 
      Prevention Centre, Immunohematology and Transfusion Medicine, Department of 
      Molecular Medicine, "Sapienza" University of Rome, "Umberto I" Hospital, Rome, 
      Italy. Electronic address: claudia.stefanutti@uniroma1.it.
FAU - Morozzi, Claudia
AU  - Morozzi C
AD  - Extracorporeal Therapeutic Techniques Unit, Lipid Clinic and Atherosclerosis 
      Prevention Centre, Immunohematology and Transfusion Medicine, Department of 
      Molecular Medicine, "Sapienza" University of Rome, "Umberto I" Hospital, Rome, 
      Italy.
FAU - Di Giacomo, Serafina
AU  - Di Giacomo S
AD  - Extracorporeal Therapeutic Techniques Unit, Lipid Clinic and Atherosclerosis 
      Prevention Centre, Immunohematology and Transfusion Medicine, Department of 
      Molecular Medicine, "Sapienza" University of Rome, "Umberto I" Hospital, Rome, 
      Italy.
FAU - Sovrano, Barbara
AU  - Sovrano B
AD  - Extracorporeal Therapeutic Techniques Unit, Lipid Clinic and Atherosclerosis 
      Prevention Centre, Immunohematology and Transfusion Medicine, Department of 
      Molecular Medicine, "Sapienza" University of Rome, "Umberto I" Hospital, Rome, 
      Italy.
FAU - Mesce, Dario
AU  - Mesce D
AD  - Extracorporeal Therapeutic Techniques Unit, Lipid Clinic and Atherosclerosis 
      Prevention Centre, Immunohematology and Transfusion Medicine, Department of 
      Molecular Medicine, "Sapienza" University of Rome, "Umberto I" Hospital, Rome, 
      Italy.
FAU - Grossi, Alberto
AU  - Grossi A
AD  - Aegerion Pharmaceuticals Srl, Modena, Italy.
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
DEP - 20160227
PL  - United States
TA  - J Clin Lipidol
JT  - Journal of clinical lipidology
JID - 101300157
RN  - 0 (BMS201038)
RN  - 0 (Benzimidazoles)
RN  - 0 (Lipoproteins)
SB  - IM
MH  - Adult
MH  - Benzimidazoles/*therapeutic use
MH  - *Blood Component Removal
MH  - Female
MH  - *Homozygote
MH  - Humans
MH  - Hyperlipoproteinemia Type II/blood/drug therapy/*genetics/*therapy
MH  - Lipoproteins/*blood
MH  - Male
MH  - Rome
MH  - Young Adult
OTO - NOTNLM
OT  - Aortic valve disease
OT  - Ezetimibe
OT  - Homozygous familial hypercholesterolemia
OT  - Italy
OT  - Lipoprotein apheresis
OT  - Lomitapide
OT  - Statins
EDAT- 2016/09/01 06:00
MHDA- 2017/10/11 06:00
CRDT- 2016/09/01 06:00
PHST- 2015/11/21 00:00 [received]
PHST- 2016/02/02 00:00 [revised]
PHST- 2016/02/18 00:00 [accepted]
PHST- 2016/09/01 06:00 [entrez]
PHST- 2016/09/01 06:00 [pubmed]
PHST- 2017/10/11 06:00 [medline]
AID - S1933-2874(15)30103-3 [pii]
AID - 10.1016/j.jacl.2016.02.009 [doi]
PST - ppublish
SO  - J Clin Lipidol. 2016 Jul-Aug;10(4):782-789. doi: 10.1016/j.jacl.2016.02.009. Epub 
      2016 Feb 27.