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Long-Term Follow-Up of a Homozygous Familial Hypercholesterolemic Patient Receiving Regular Double Filtration Plasmapheresis - Case Report and Literature Review.
- Source :
-
Blood purification [Blood Purif] 2016; Vol. 41 (4), pp. 264-9. Date of Electronic Publication: 2016 Jan 06. - Publication Year :
- 2016
-
Abstract
- Homozygous familial hypercholesterolemia (HoFH) is a very rare condition (1 case per 1 million people) with a dismal outcome due to inevitable coronary artery disease that occurs when left untreated. Lipoprotein apheresis (LA), previously known as low-density lipoprotein (LDL) apheresis, is very effective in reducing LDL-cholesterol (LDL-C) if HoFH is refractory to aggressive drug therapy and diet control. In this study, we report a case with HoFH, who presented with xanthomata over the 4 limbs when she was 3 years old. When she was 11 years old, she began treatment with semi-selective LA with double filtration plasmapheresis (DFPP) once per week because HoFH was refractory to high-dose statin and diet control. LDL-C was reduced from 8.2 ± 0.9 to 2.69 ± 0.75 mmol/l (reduction rate = 67.3 ± 6.1%). The xanthomata over the 4 limbs were nearly completely resolved after 2 years of DFPP. Two years later, after the initiation of DFPP, we performed coronary angiography and echocardiography for regular checkup in the absence of chest pain, and the result was negative. To date (11 years after initiation of DFPP), she has not complained of any chest pain, shown intolerance to exercise, or exhibited ST-T change on electrocardiography. At the age of 20, multidetector computed tomography showed no significant stenosis over the coronary arteries. At the most recent follow-up visit, she was found to have good heart function and no xanthomata. LA is effective in the treatment of HoFH when drug therapy and diet control fail. With this treatment, pre-existing xanthomata can regress and coronary artery disease can be prevented.<br /> (© 2016 S. Karger AG, Basel.)
- Subjects :
- Cholesterol, LDL blood
Coronary Angiography
Coronary Artery Disease prevention & control
Female
Homozygote
Humans
Hydroxymethylglutaryl-CoA Reductase Inhibitors therapeutic use
Hyperlipoproteinemia Type II blood
Hyperlipoproteinemia Type II complications
Hyperlipoproteinemia Type II diagnostic imaging
Rosuvastatin Calcium therapeutic use
Time Factors
Treatment Outcome
Xanthomatosis blood
Xanthomatosis complications
Xanthomatosis diagnostic imaging
Young Adult
Hyperlipoproteinemia Type II therapy
Plasmapheresis methods
Xanthomatosis therapy
Subjects
Details
- Language :
- English
- ISSN :
- 1421-9735
- Volume :
- 41
- Issue :
- 4
- Database :
- MEDLINE
- Journal :
- Blood purification
- Publication Type :
- Academic Journal
- Accession number :
- 26731699
- Full Text :
- https://doi.org/10.1159/000443139