Tangier disease
Introduction
Introduction to Tangier's disease Tangier disease, also known as alpha-proteinemia, is associated with the Virginia Island of Virginia, the home of the first patient with this disease, characterized by almost complete deficiency of high-density lipoprotein (HDLS) in serum. For example, in many tissues tissue accumulation of intracellular cholesterol esters, especially in the tonsils, lymph nodes, thymus, bone marrow, liver, spleen, mucous membranes and skin. It is autosomal recessive and has a low incidence. basic knowledge Sickness ratio: 0.0002%-0.0005% Susceptible people: no specific population Mode of infection: non-infectious Complications: atherosclerosis, coronary heart disease, myocardial infarction
Cause
The cause of Tangier disease
Causes:
Lipoprotein electrophoresis analysis can detect the disease as a genetic disorder in patients with pure zygote, which is characterized by the absence of serum alpha-lipoprotein (HDL), hypercholesterolemia and hypertriglyceridemia. The seroconversion characteristics.
Pathogenesis:
It is an autosomal recessive inheritance that causes systemic damage from the accumulation of cholesterol esters in the macrophage system.
Prevention
Tangier disease prevention
Correcting partial eclipse, controlling high calorie, high fat, high protein diet is the key to preventing this disease.
Complication
Tangier disease complications Complications Atherosclerosis Coronary heart disease Myocardial infarction
Early onset atherosclerosis can occur, especially in peripheral vascular lesions than in coronary arteriosclerosis. In addition, the probability of early onset of coronary heart disease is also higher (40 males for males and 50 years for females); complications such as palmar strip yellow tumors. Seriously, due to the lack of HDL, fatty acid and cholesterol can be increased, and complications such as premature coronary heart disease, myocardial infarction and ischemic stroke can occur.
Symptom
Symptoms of Tangier's disease Common symptoms Leukopenia reduces sclerotic papular splenomegaly thrombocytopenic corneal opacity
Tonsil hyperplasia with orange-yellow stripes and splenomegaly, often with leukopenia, thrombocytopenia, mild anemia, increased reticular cells, mild hepatomegaly, multiple lymph node lesions, multiple neuropathy, corneal opacity and bone marrow storage cells, skin Changes in non-specific papules, sometimes xanthoma-like, the disease usually occurs in the 30 to 60 years old, because only this time, tissue cell-like cell proliferation and lipid accumulation caused by various organ diseases, and the relationship between arteriosclerosis Inconclusive.
Examine
Inspection of Tangier disease
High-density lipoprotein (HDLS) in serum is almost completely absent.
Histopathology: Tissue cells and foam cells that store cholesterol are common. They are associated with changes in organs. Schwann cells in skin tissue cells and skin nerves also store cholesterol esters, in addition to myelin and unmyelinated skin nerves. Lipid storage is also possible.
Diagnosis
Diagnosis and identification of Tangier disease
A preliminary diagnosis can be made based on clinical symptoms. Typical changes can be identified by histochemistry and further confirmed by electron microscopy, including papular lesions and unaffected skin.
Identification with familial hypercholesterolemia, familial hypertriglyceridemia, familial mixed hyperlipidemia, and the like. Identification based on blood lipids, cholesterol levels, and detailed physical examination is not difficult. However, the incidence of this disease is extremely low and very rare. The possibility of this disease needs to be considered after the exclusion of other related diseases. The disease is characterized by the absence of serum alpha-lipoprotein (HDL), hypercholesterolemia and hypertriglyceridemia are the seroconversion characteristics of this disease.
