An 8 year old child is referred to you with history of Mononeuritis multiplex. On examination you find that there is hepatosplenomegaly. Examination of the oral cavity and pharynx revealed enlarged orange coloured tonsils. Which of the following statement regarding the above condition is false?
Tangier disease is an autosomal co dominant condition caused by mutation in the gene coding for ABCA 1. These patients have low levels of HDL-C, ApoA - I and LDL-C. There may be a slightly elevated triglyceride levels. The accumulation of cholesterol in the reticulo endothelial system is responsible for the findings described in the question. Ref: Harrison, Edition 17, Page - 2423 ; Essential revision notes for MRCP by Philip A Kalra, Edition 3, Page - 333
It is a case of Tangier diaese
The plasma LDL - c levels will be low
It is an autosomal recessive condition
It is caused by ABCA1 deficiency