Understanding Lecithin Cholesterol Acyltransferase (LCAT) Deficiency Disorders

00:00 - Introduction
02:08- What is LCAT deficiency disorders?
06:55- When should one get tested for LCAT deficiency disorders?
11:35- Beverly’s story as a caregiver.
13:41- Jason’s story.
19:38- What is the current standard of care for LCAT deficiency disorders?
26:04- Approaches for developing novel treatment for LCAT deficiency disorders?
32:34- Jason’s tips for people diagnosed with LCAT deficiency disease?
33:59- Challenges due to the lack of understanding about LCAT deficiency disease.
37:47- LCAT deficiency disease resources for patients and caregivers.

Lecithin cholesterol acyltransferase (LCAT) deficiency is a genetic disorder that affects the body’s ability to process cholesterol. It is characterized by cloudiness of the clear front surface of the eye (corneal opacities), a shortage of red blood cells (hemolytic anemia), and kidney failure. Familial LCAT deficiency is one of two types of LCAT deficiency; the other type of LCAT deficiency is fish-eye disease. Both types of LCAT deficiency are caused by genetic changes in the LCAT gene and are inherited in an autosomal recessive manner. Fewer than 1000 people in the US have this disease and we are talking to Dr. Marina Cuchel from University of Pennsylvania to understand the condition better. We will be touching upon various aspects of the disease not limited to symptoms, diagnosis, treatment and management.

This talk has been created by CureTalks.com, in association with University of Pennsylvania to facilitate discussions for solutions, with a mission to heal the world through information and sharing of knowledge. At CureTalks we discuss groundbreaking medical research including a wide range of medical, health, and wellness issues, bringing together the doctors, researchers and patients on the same platform.

#rarediseases #rarediseaseawareness #LCAT