Low-density lipoprotein apheresis in a pediatric patient of familial hypercholesterolemia: Primi experientia from a tertiary care center in North India.
Familial hypercholesterolemia (FH) is an autosomal dominant disorder due to mutation of apolipoprotein-B receptor gene causing severe dyslipidemia. Lifestyle modification and medical treatment attenuate the disease progression, but as these fail to control the blood cholesterol levels, low-density lipoprotein (LDL) apheresis comes forth as a treatment option. To the best of our knowledge, the following is the very first case of pediatric FH being treated by LDL-apheresis to be reported from India. A severely malnourished female child presented with yellowish skin lesions over different parts of the body, viz., bilateral Achilles tendon, both knees, elbows, both pinnae, and outer canthus of both eyes. She had a strong family history of borderline hypercholesterolemia and was diagnosed as a case of FH. She was maintained on diet modification. LDL-apheresis was planned as the cholesterol levels were not controlled with the diet modificationt. However, unavailability of an appropriate kit in India for LDL-apheresis led to the use of the modified PL1 kit meant for therapeutic plasma exchange procedures. We conducted two sessions of LDL-apheresis. After the first session, the LDL-cholesterol (LDL-C) level fell by 75.9% and the total cholesterol fell by 73.5%. A second procedure led to a decline in total cholesterol level by 18.6% and LDL-C by 19.46%. Subsequently, she was advised diet modification and statin therapy with regular follow-up after every 6 months. Thus, the cascade filtration technique is a safe and effective treatment option for removing the undesired lipoproteins.
Department of Transfusion Medicine, All India Institute of Medical Sciences, New Delhi, India.
Kanchan
K
Dogra
Department of Endocrinology, All India Institute of Medical Sciences, New Delhi, India.
Alpesh
A
Goyal
Department of Endocrinology, All India Institute of Medical Sciences, New Delhi, India.
Rajesh
R
Khadgawat
Department of Endocrinology, All India Institute of Medical Sciences, New Delhi, India.
Yashdeep
Y
Gupta
Department of Transfusion Medicine, All India Institute of Medical Sciences, New Delhi, India.
Diptiranjan
D
Rout
Department of Transfusion Medicine, All India Institute of Medical Sciences, New Delhi, India.
Parag Prabhakar
PP
Fulzele
Department of Transfusion Medicine, All India Institute of Medical Sciences, New Delhi, India.
Rahul
R
Chaurasia
Department of Transfusion Medicine, All India Institute of Medical Sciences, New Delhi, India.
Poonam
P
Coshic
Department of Transfusion Medicine, All India Institute of Medical Sciences, New Delhi, India.
Kabita
K
Chatterjee
Cascade filtration; familial hypercholesterolemia; low-density lipoprotein apheresis