Troubles Linked to Tangier Disease: Persistent Health Problems and Organ Malfunctions
Tangier Disease (TD), a rare inherited disorder first identified on Tangier Island, Virginia, USA, is characterized by defective cholesterol transport due to mutations in the ABCA1 gene. This condition can lead to a wide range of long-term complications affecting various organs and systems.
One of the most significant impacts is on the cardiovascular system. Accelerated atherosclerosis may occur due to abnormal cholesterol metabolism, increasing the risk of cardiovascular disease. High levels of low-density lipoprotein (LDL) cholesterol and low levels of high-density lipoprotein (HDL) cholesterol increase the risk of atherosclerosis, coronary artery disease, stroke, and heart attack [1].
The peripheral nervous system is another area affected by TD. Patients often develop a progressive peripheral neuropathy, including symptoms such as numbness and weakness, particularly in the lower extremities. This neuropathy can be disabling and reflects involvement of the peripheral nerves [2]. The neuropathy associated with TD can involve both sensorimotor and autonomic nerves, potentially causing autonomic symptoms like altered sweating or gastrointestinal motility problems.
The hepatic system is also commonly affected, with hepatosplenomegaly (enlarged liver and spleen) being a common characteristic. This enlargement is due to lipid accumulation, which can lead to liver dysfunction over time [1].
TD can also impair the immune function, leading to increased susceptibility to infections. This is because the disorder impairs the formation of HDL, which plays roles in immune modulation [1].
Accumulation of cholesterol esters in various tissues can cause enlargement and dysfunction in organs such as tonsils, possibly affecting respiratory and lymphatic functions. Tonsillar enlargement can cause breathing difficulties due to airway blockage and may be categorized from grade 1 to 4 [1].
Lymphadenopathy, the swelling of the lymph nodes, can also occur, affecting the lymphatic system's filtering and immune inspection functions [1].
Gastrointestinal issues can include chronic diarrhea, abdominal pains, and potential links to diabetes due to liver and pancreas impairments [1]. Metabolic problems brought on by impaired cholesterol transport, including abnormal platelets, are long-term consequences of Tangier Disease [1].
While there is no cure for Tangier Disease, proper medical care and lifestyle changes can help manage symptoms. This includes maintaining a heart-healthy diet, consistent exercise, and careful cardiovascular health monitoring to avoid complications [1].
TD is a recessive genetic disorder caused by the deficiency or absence of HDL due to a mutation in the ABCA1 gene. The ABCA1 gene mutation in Tangier Disease leads to an increased risk of cardiovascular disease, which can be deadly if left untreated [1].
TD is a rare disease, with approximately 1 in 1,000,000 affected [1]. Despite its rarity, understanding this condition is crucial for early diagnosis and effective management of its long-term complications.
References:
[1] Orphanet. Tangier Disease. [Internet] 2021. Available from: https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=136
[2] National Organization for Rare Disorders. Tangier Disease. [Internet] 2021. Available from: https://rarediseases.org/rare-diseases/tangier-disease/
[3] UpToDate. Tangier disease. [Internet] 2021. Available from: https://www.uptodate.com/contents/tangier-disease-clinical-features-and-diagnosis
- Persons with Tangier Disease may face a higher risk of cardiovascular disease due to accelerated atherosclerosis caused by abnormal cholesterol metabolism.
- High levels of LDL cholesterol and low levels of HDL cholesterol in patients with Tangier Disease can increase the risk of atherosclerosis, coronary artery disease, stroke, and heart attack.
- Tangier Disease can cause progressive peripheral neuropathy, resulting in symptoms like numbness, weakness, and potential autonomic symptoms such as altered sweating or gastrointestinal motility problems.
- Enlargement of the liver and spleen (hepatosplenomegaly) is common in Tangier Disease, due to lipid accumulation that can lead to liver dysfunction over time.
- Tangier Disease can impair the immune system, making patients susceptible to infections, as it interferes with the formation of HDL, which has roles in immune modulation.
- Tonsillar enlargement due to cholesterol ester accumulation may occur in Tangier Disease, potentially affecting respiratory and lymphatic functions.
- Lymphadenopathy, or swelling of the lymph nodes, can also affect patients with Tangier Disease, impairing the lymphatic system's filtering and immune inspection functions.
- Gastrointestinal issues such as chronic diarrhea, abdominal pains, and potential diabetes links due to liver and pancreas impairments can be long-term consequences of Tangier Disease.
- Metabolic problems, including abnormal platelets, are long-term consequences of Tangier Disease, caused by impaired cholesterol transport.
- Proper medical care and lifestyle changes, such as maintaining a heart-healthy diet, consistent exercise, and careful cardiovascular health monitoring, can help manage symptoms of Tangier Disease.
- Tangier Disease is a recessive genetic disorder caused by the deficiency or absence of HDL, resulting from a mutation in the ABCA1 gene.
- The ABCA1 gene mutation in Tangier Disease leads to an increased risk of cardiovascular disease, which can be fatal if left untreated.
- Tangier Disease is a rare disease, affecting approximately 1 in 1,000,000 individuals.
- Understanding Tangier Disease is essential for early diagnosis and effective management of its long-term complications, even though it is a rare condition.
- Therapies and treatments, along with adequate nutrition and appropriate attention to issues like aging, eye health, hearing, health and wellness, fitness and exercise, sexual health, mental health, men's health, women's health, skin care, neurological disorders, skin conditions, parenting, weight management, and Medicare, can be crucial for persons with Tangier Disease to maintain their overall health and wellbeing.
