Tangier disease is an extremely rare hereditary disease with around 100 documented cases to date. Patients with this disease suffer from a disorder of lipid metabolism and reduced production of HDL cholesterol. Causal therapy methods for the treatment of Tangier’s disease do not yet exist.
What is Tangier disease?
Tangier disease is an extremely rare genetic defect. This defect triggers a disruption in lipid metabolism. So far, little more than 100 people affected have been reported. In 1961, DS Frederickson, who first described it, named the disease after the island of Tangier. At that time, the only documented patients came from this island. Tangier disease is associated with impaired release of cholesterol from the body’s cells. For what is midlife crisis, please visit gradinmath.com.
As a result, fewer high-density lioproteins are formed. These so-called HDL proteins primarily transport cholesterol away. The removal of the cholesterol is disturbed due to the low HDL proteins and the substance is increasingly stored in the reticular connective tissue. The specialist literature sometimes also refers to the hereditary disease as an -α-lipoproteinemia, as a familial HDL deficiency or as a familial hypoalphalipoproteinemia.
Causes
The hereditary disease of familial HDL deficiency is inherited in an autosomal recessive manner. This means that the disease can only be passed on by two partners with the defect. The triggering gene defect is probably on the long arm of chromosome nine and relates to the ABCA 1 gene. This ABCA 1 gene encodes transport proteins that are involved in removing cholesterol from body cells.
Medicine distinguishes between carriers of the defect and those who are actually ill. If both the mother and father carry the genetic defect, there is a one in four chance of having a sick child. The probability of children with the defect is two to four and the probability of completely healthy offspring, like that of a sick child, is given as a ratio of one to four.
Symptoms, Ailments & Signs
The leading symptom of Tangier’s disease is yellow-orange patches of skin. They are mainly located on the lymphatic organs of the skin of the mouth and throat. The tonsils are particularly affected by the discoloration caused by stored cholesterol. Sometimes they are also enlarged along with the rest of the lymphatic oropharynx. Likewise, enlargements of the internal organs can sometimes occur as part of Tangier’s disease.
This refers primarily to enlargements of the liver and spleen or the pancreas. Arteriosclerosis, i.e. hardening of the arteries, sometimes occurs because of the low HDL level in the patient. As a result, corneal opacities or anemic blood count changes can occur.
Somewhat more rarely, neurological symptoms were reported in addition to the above-mentioned complaints. In the beginning, these primarily include muscle weaknesses and sensory disorders, as well as movement disorders in the arms and legs. The neurological symptoms usually recede, but often recur over the course of the disease. As a rule, they affect individual nerves of the peripheral nervous system.
Diagnosis & course of disease
The first suspicion of Tangier’s disease may come to a doctor during visual diagnosis. Visual diagnostics typically show yellow-orange mucosal changes. In the serum, physicians use total cholesterol, HDL cholesterol and apolipoprotein AI as indicators of the disease. For example, no α or pre-β bands are found in lipoprotein electrophoresis. With regard to the cholesterol level, values below 100 mg/dl are considered an indication of Tangier’s disease.
At the same time, HDL cholesterol cannot be identified at all or shows a faulty structure. In addition, low levels of apolipoprotein A-II are often present. A human genetic test often secures the diagnosis. Nerve biopsies may be required in forms with neurological deficits. These biopsies usually show a regression of myelinated and unmyelinated axons. On the whole, the prognosis for Tangier disease is relatively favorable. If vascular or cardiovascular diseases appear in adulthood, the prognosis is somewhat less favorable.
Complications
The most serious complication of Tangier’s disease is the overgrowth of internal organs. During the course of the disease or right from birth, the liver and spleen, and rarely also the pancreas, become enlarged. This causes a number of complaints such as symptoms of intoxication, hormonal fluctuations or metabolic disorders, which in turn are associated with serious complications.
If arteriosclerosis is diagnosed, permanent damage has usually already developed from it. Corneal opacity, anemic blood count changes and neurological symptoms usually occur. Muscle weakness and sensory and movement disorders in the arms and legs are typical. If left untreated, permanent misalignments and serious illnesses can occur.
In the most severe cases, this can lead to circulatory collapse or even heart failure and ultimately death of the patient. The treatment of the rare hereditary disease is also not risk-free. Under certain circumstances, gene therapy can trigger serious illnesses and lead to cancers such as leukaemia, for example.
Finally, in the case of virus transduction, there is a risk that the patient will become infected with the virus used as a ferry. Such an infection is usually fatal or at least has serious health consequences.
When should you go to the doctor?
In the case of Tangier’s disease, the affected person is dependent on a visit to a doctor. Further complications and symptoms can only be avoided by correct and, above all, early treatment. Early diagnosis has a positive effect on the further course. Therefore, a doctor should be consulted at the first signs and symptoms of Tangier’s disease. The doctor should be consulted if the person concerned suffers from various eye problems.
The cornea of the eye usually becomes cloudy. If these symptoms occur for no particular reason and do not go away on their own, you must consult a doctor. Sudden muscle weakness or movement disorders can also indicate Tangier disease and should also be checked by a doctor.
As a rule, Tangier’s disease can be diagnosed and treated by a general practitioner or an orthopedist. However, the further course depends heavily on the time of diagnosis, so that no general prediction is possible.
Treatment & Therapy
To date, there are hardly any therapeutic measures available for the treatment of Tangier diseases. On the one hand, this is due to their genetic causes and, on the other hand, to their rarity, which also only allows limited research. A nutrition plan is one of the few therapeutic approaches for Tangier disease. Although a particularly low-fat diet is recommended for all forms of the hereditary disease, the change in diet does not correspond to a causal therapy.
In terms of causal therapy, genetic engineering forms of therapy may be conceivable in the future. This genetic engineering treatment would take place as part of gene therapy and could possibly replace the defective gene with a healthy one. Gene therapies have already been successfully carried out on humans as part of clinical studies. On the other hand, several deaths have also been reported in connection with human gene therapy studies.
In view of this, gene therapy is still in its infancy and is currently (as of 2015) one of the most important research areas in medicine. Because of the rarity of Tangier disease, gene therapy studies directly related to the disease have never been conducted.
Prevention
Tangier disease cannot be prevented. Parents-to-be or couples planning children can theoretically be tested for the genetic defect via a sequence analysis of their DNA. In this way, the risk for a child with Tangier’s disease can at least be better assessed.
Aftercare
Since Tangier disease is a very rare hereditary disease and is based on a genetic defect, the options for self-treatment are rather limited. However, dietary measures have proven to have a positive effect on this disease: The diet of the person affected should be low in fat. Dietary supplements help to compensate for nutrient deficiencies.
Raw vegetables and healthy foods dominate the menu. Heavy foods that could raise cholesterol levels should be avoided as much as possible. Medications that negatively affect cholesterol levels must also be discontinued in consultation with the doctor and replaced with alternative medications. A healthy lifestyle can have a positive effect on the general well-being of the patient.
This includes getting enough sleep, moderate physical activity and avoiding stress. Stimulants such as alcohol and nicotine should be avoided as far as possible. It is important for the patient to take their medication according to the doctor’s prescriptions and to find out about possible interactions and side effects so that they can take appropriate measures if necessary.
A causal treatment of Tangier’s disease is not yet possible. Various genetic engineering therapies are currently being tested, which may promise a cure for this disease in the future. Those affected should ask their doctor about these options so that they can take part in current test programs.
You can do that yourself
Individuals suffering from Tangier’s disease must primarily take dietary measures. Eating a low-fat diet and taking dietary supplements is recommended. The menu should consist primarily of raw and healthy foods. It is important to avoid stimulants such as alcohol, nicotine or caffeine, as well as particularly heavy foods that increase the cholesterol level. This also includes certain medications that must be discontinued in consultation with the doctor.
In addition, general measures such as sufficient exercise, plenty of sleep and avoiding stress are important. Sick people must also take the prescribed medication according to the doctor’s instructions and inform the doctor about any side effects and interactions so that the necessary countermeasures can be initiated at an early stage. In addition, consultation should be held with other specialists, such as nutritionists and alternative doctors, who can support the treatment of the pain.
To date, Tangier’s disease cannot be treated causally. However, genetic therapy forms are currently being tested, which could enable a cure in the future. Affected people should talk to their family doctor about these options and, if necessary, take part in current test programs.
