progressive lipodystrophy
Introduction
Introduction to progressive lipodystrophy Progressive lipodystrophy is a rare autonomic nervous system disease characterized by adipose tissue metabolic disorders. The clinical and histological features are slowly progressive bilateral distribution, basically symmetrical, well-defined, subcutaneous adipose tissue atrophy or disappearance. Sometimes, it can be combined with limited adipose tissue hyperplasia and hypertrophy. Because of the range of fat atrophy, it can be divided into localized lipodystrophy (Simons disease or head and chest fat malnutrition) and systemic lipodystrophy (Seip-Laurence syndrome). basic knowledge The proportion of illness: the incidence rate is about 0.0001% - 0.0002% Susceptible people: no special people Mode of infection: non-infectious Complications: malnutrition
Cause
Causes of progressive lipodystrophy
(1) Causes of the disease
The cause is unknown, due to damage to the midbrain and the interbrain, resulting in increased secretion of anterior pituitary hormone or disorder of mesodermal interstitial function. Sissons found that some patients with glomerulonephritis and low complement (C3), a small number of patients Have a family history.
(two) pathogenesis
Mainly related to hypothalamic lesions and post-ganglionic sympathetic neuropathy in parallel with the spinal nerve. The hypothalamus plays a regulatory role in gonadotropins, thyroid stimulating hormone and other endocrine glands, and has an anatomical close relationship with post-ganglionic sympathetic nerve fibers. There seems to be a boundary between the disappearance zone of adipose tissue of adipose dystrophy and the normal zone or obese zone. This boundary seems to have a certain relationship with the segment of the spinal cord. Usually, the body is divided into the upper body and the lower body by the waist 1 to 2. section.
Another study suggests that the hypothalamic and pituitary components constitute a metabolic regulation control system, and the disappearance of fat is related to the promotion of the fat transfer factor produced by the system. There may be acute fever history and endocrine defects such as hyperthyroidism and pituitary function before onset. Low and inferior encephalitis, injury, mental factors, early menstruation and pregnancy can be the cause, and the current view of the role of genetic factors has not been unified.
Prevention
Progressive lipodystrophy prevention
There are no effective preventive measures, and due to rest, nutrition, massage and physical therapy, some patients can regain lost fat.
Complication
Progressive lipodystrophy Complications malnutrition
Fat malnutrition In addition to kidney disease, patients often have symptoms similar to systemic lipodystrophy, including: diabetic hirsutism, hepatic mental retardation, hyperlipidemia, and subcutaneous nodules. It should be differentiated from scleroderma and other fat-metabolic diseases and should be differentiated from other causes of nephrotic syndrome. Severe patients often have poor physical development and even mental retardation.
Symptom
Symptoms of progressive fatty dystrophy Common symptoms Skin wrinkles, diarrhea, body weight loss, lower body, thin body, both sides of the cheeks and crotch, concave, urine, simple upper body, lean skin type, subcutaneous fat, upper body obesity, abdominal pain
Progressive lipodystrophy is a rare autonomic nervous system disease characterized by adipose tissue metabolic disorders. The clinical and histological features are slowly symmetrical bilaterally distributed, with well-defined borders, subcutaneous adipose tissue atrophy or Disappeared, sometimes combined with limited adipose tissue hyperplasia, hypertrophy.
Because of the range of fat atrophy, it can be divided into localized lipodystrophy (Simons disease or head and chest fat malnutrition) and systemic lipodystrophy (Seip-Laurence syndrome).
1. Most patients start from 5 to 10 years old, women are more common, and the onset and progress are slower. At the beginning of the disease, the facial or upper extremity adipose tissue disappears, and then expands downward, involving the buttocks and thighs. The symmetry distribution, the duration of the disease lasts for 2 to 6 years, can be stopped by itself. The patient's facial expression is concave on both sides of the cheeks and ankles. The skin is slack and loses normal elasticity. The cheeks and the fat around the eyelids disappear, which makes the patient show a special face. The hips may have obvious subcutaneous tissue hyperplasia and hypertrophy, but the hands and feet are often unaffected.
2. The patient can express the disappearance of adipose tissue, coexistence of special obesity and normal adipose tissue, and combine the basic characteristics of the cost disease in different ways. According to different combinations, the following types can be expressed:
1 upper body is normal, lower body is obese;
2 upper body is thin, lower body is obese;
3 simple upper body weight loss type;
4 upper body obese;
5 lower body weight loss type;
6 body weight loss type;
7 half-length obese.
3. Patients may have changes in skin moisture, abnormal sweating, polyuria, impaired glucose tolerance, tachycardia, unstable vascular movement, vascular headache, abdominal pain, vomiting, skin and nail nutritional disorders, and other autonomic dysfunctions. Cases may be associated with endocrine dysfunction, such as genital dysplasia, thyroid dysfunction, acromegaly and menstrual disorders, etc., generally within 5 to 10 years after the onset of symptoms gradually stabilized.
4. The patient's muscles, bones, hair, breast and sweat glands are normal, no muscle disorders, most patients' physical strength is not affected, and the physical and mental development during the course of the disease is not affected. Recently reported Hodgkin's disease ,scleroderma.
5. Neonatal or infant patients often have congenital systemic and multiple organ lesions, in addition to the head, face, neck, trunk and limbs, including subcutaneous and visceral fat tissue, can also be associated with high Blood lipids, diabetes, hepatosplenomegaly, skin pigmentation, heart and muscle hypertrophy.
Examine
Progressive fat malnutrition
Laboratory tests revealed serum chylomicrons, pre-beta lipoprotein, and triglycerides, 70% of patients with C3 decreased, and 90% with nephritis.
1. Skin and subcutaneous tissue biopsy showed subcutaneous adipose tissue atrophy and normal skin.
2. Electromyography shows normal muscle and nerves.
3. B-ultrasound can be found that the affected organs shrink and become smaller.
Diagnosis
Diagnosis and identification of progressive lipodystrophy
According to the disappearance of subcutaneous adipose tissue, muscle and bone are normal, the adipose tissue disappears in the living tissue examination, and the subcutaneous fat disappears, and the increase and normal conditions can be confirmed by combining in different ways.
Differential diagnosis
1. Facial lateral atrophy: progressive atrophy of one side of the face, skin, subcutaneous tissue and bone are all involved.
2. Localized muscular dystrophy: such as face-shoulder-sputum type, manifested as facial muscle wasting with weak muscle strength, EMG suggests muscle damage, subcutaneous fat remains.
3. Excessive weight loss: Most cases of excessive weight loss caused by various causes can detect the cause, such as malignant tumor, chronic infection and long-term gastrointestinal dysfunction.
