What Is Tangier Disease?
Tangier Disease is an passing rarified inherited pathological precondition in which the affected individual has exceedingly low level of HDL cholesterin or the “ Good Cholesterol ” in the ancestry . The single-valued function of the HDL cholesterin is to remove cholesterol which may have amass on the arteries peculiarly the coronary artery and keeps the eye healthy .
The classic presenting feature of Tangier Disease are expansion of the spleen and liver , lymph node hump . Additionally , an someone with Tangier Disease will be at an increase peril for having cardiovascular diseases due to accumulation of cholesterol in the arteries or wall of the arteria of the coronary arteria .
On laboratory investigating , an someone with Tangier Disease will have importantly increased grade of triglyceride . The ABCA1 is the factor responsible for the development of Tangier Disease .
What Are The Causes Of Tangier Disease?
As state , mutations in the ABCA1 gene is the root suit for the development of Tangier Disease . This factor is creditworthy for production of protein which help effort of cholesterol from inside the cell to apolipoprotein which is a major ingredient of HDL .
Due to mutation in the gene , the production of this protein is impaired such that cholesterin is not able-bodied to be moved out of the cell to the apolipoprotein . This process can be further understood by the fact that cholesterol is something which can not dissolve in blood and thus it needs to be ravish from cells by lipoproteins .
There are many character of lipoproteins but the chief two type of lipoprotein are LDL and HDL which are low-down density lipoprotein and high density lipoprotein .
HDL cholesterol is called as good cholesterol as it removes cholesterol build up from the arteries peculiarly the coronary artery and thus protect the soul from the risks of cardiovascular diseases whereas the LDL cholesterol does the job of depositing cholesterol in the arteries thus increase the risk of an individual to have cardiovascular disease .
individual with Tangier Disease tend to have importantly reduced storey of HDL cholesterol thus pose them at risk of exposure for various complicatedness that arise out of increase cholesterin floor especially cardiovascular risk gene apart from the increased cholesterol regard the liver and spleen as a result of Tangier Disease .
What Are The Symptoms Of Tangier Disease?
The presenting characteristic of Tangier Disease are quite variable and depend on the organ which are affected by the disease experimental condition and the rigorousness of the condition . Yellow colored tonsils are the first presenting symptom of Tangier Disease . This is because of accruement of fatty deposition in the palatine tonsil . The accruement of fat person deposits can also pass off in other organ of the body like pharynx , liver , or spleen .
An individual may also experience peripheral neuropathy as a result of fat accumulation in the boldness characterized by exit of sensation . Cardiovascular disease is also a known symptom of Tangier Disease in adults . Clouding of the cornea is also one of the symptoms of Tangier Disease , although rarified .
How Is Tangier Disease Diagnosed?
A thorough clinical rating of the patient along with a detailed history can manoeuvre towards a diagnosing of Tangier Disease . In case if there is another menage member with a known diagnosis of Tangier Disease then this also assist in confirming the diagnosis of Tangier Disease .
lab investigation will clear show low levels of HDL cholesterol further pointing towards a diagnosing of Tangier Disease . A genetic test can also be done which will clearly show mutation in the ABCA1 gene which will confirm the diagnosis of Tangier Disease .
How Is Tangier Disease Treated?
The intervention for Tangier Disease is basically diagnostic and supportive . Surgery may be required for patients who have magnify irascibility , pharynx or tonsils . medicine may be break to lower the grade of unsound cholesterol of LDL and preclude accumulation of deposition in the coronary artery and preclude any endangerment of cardiovascular diseases .
occasional cardiac judgment and confining monitoring of the cholesterin level is absolutely mandatory for patient so as to prevent any knottiness of Tangier Disease .
