primary systemic amyloidosis
Introduction
Introduction to primary systemic amyloidosis Primary systemic amyloidosis, also known as Lubarsch-Pick disease, is the deposition of amyloid protein in the interstitial tissue, involving the heart, liver, kidney, gastrointestinal tract and skin. Systemic damage. basic knowledge Proportion of disease: low incidence, about 0.005% Susceptible population: average age of onset is over 60 years old Mode of infection: non-infectious Complications: acute cardiac insufficiency, proteinuria, blood in the stool, multiple myeloma
Cause
Primary systemic amyloidosis
(1) Causes of the disease
The etiology is unknown, and various stimuli including immune factors cause plasma cell proliferation and malignant tumors of plasma cells are important pathogenesis. Molecular genetic studies have proved that some cases are associated with abnormal somatic hypermutation.
(two) pathogenesis
Amyloid protein is derived from a denatured immunoglobulin light chain, called an amyloid light chain (AL) protein, which may be a fragment or all of the light chain, or a Bence-Jones protein, whether it is a typical multiple myeloma or benign The monoclonal immunoglobulin disease produces an excessive amount of monoclonal light chain, which may be incompletely digested by phagocytic lysosomes, and then combined with mucopolysaccharide to precipitate insoluble amyloid protein outside the cell, causing the disease, primary Most patients with systemic amyloidosis have AL protein in serum and urine, suggesting that plasma cell cachexia is paraproteinemia.
Prevention
Primary systemic amyloidosis prevention
There is no effective preventive measure for this disease. Early detection and early diagnosis are the key to the prevention and treatment of this disease.
Complication
Primary systemic amyloid complication Complications acute cardiac insufficiency protein urine and bloody multiple myeloma
Involved in skeletal muscles, back pain; heart, kidney involvement, heart failure, proteinuria and renal failure, some patients have hematemesis or blood in the stool, about 20% of patients eventually develop multiple myeloma.
Symptom
Primary systemic amyloidosis symptoms common symptoms papule mucosal damage nodular bleeding tendency plaque dystrophy bone pain protein urine blood dysphagia
Both sexes can be affected, the average age of onset is over 60 years old, the early specific manifestations are carpal tunnel syndrome, skin mucosal damage, hepatomegaly and giant tongue, 12% to 40% of patients can see giant tongue, due to increased tongue, two There may be scallops on the sides, smooth tongue surface, dry or waxy papules, nodules, plaques, bullae, fissures, ulcers and hemorrhage, some with painful dysphagia, early skin symptoms after mild trauma or spontaneous Defects, ecchymoses and purpura, occur in wrinkle depressions such as eyelids, nasolabial folds, neck, armpits, umbilicus, external genitalia and oral cavity. The characteristic skin lesions are asymptomatic smooth and waxy luster. The papules, nodules and plaques are normal skin color, amber or yellow, often accompanied by bleeding tendency. The site of occurrence is similar to purpura damage. It can also affect the ear, the central area of the face, the buccal mucosa and the groin. The rash can be isolated. Exist, but it will also merge into a large lump, with a lion-like appearance on the face, as well as scleroderma-like damage to the face, hands and feet; mucus edema in the eyelids, lips, and auricles Damage Ring-shaped, plaque-like alopecia or generalized baldness; waxy infiltration of the palm with bleeding and hyperkeratosis and delayed porphyria-like damage; various dystrophic changes such as fragility, lack of nails, under-stripes , a lichen planus-like damage and hemorrhagic or pemphigus-like damage of the skin mucosa, involving back pain in the skeletal muscle; heart, kidney involvement, heart failure, proteinuria and renal failure, some patients have hematemesis or In the case of blood in the stool, about 20% of patients eventually develop multiple myeloma, and there are symptoms such as bone pain. The prognosis of this disease is poor. The average survival time is 13 months for no myeloma and 5 months for patients with myeloma.
Examine
Primary systemic amyloidosis
Plasma -globulin is elevated, urine Bence-Jones protein is positive, and plasma cell proliferation is seen in bone marrow puncture.
Histopathology: There is a pale red, amorphous, cracked amyloid mass in the skin lesions. The amyloid protein of papular lesions is deposited in the dermal papilla with minor or disappearance of epidermal mutations; plaque or nodular lesions The amyloid protein mass is widely deposited in the dermal reticular layer and the subcutaneous fat layer, involving the blood vessel wall, the hair follicle sebaceous gland unit, the vertical hair muscle, the sweat gland and the fat cells forming an "amyloid ring", which is characteristic; a dystrophic damage Amyloid deposits in nail wrinkles and nail beds, generally no obvious inflammatory cell infiltration, the positive rate of skin biopsy in primary systemic amyloidosis is about 50% in the forearm, and the biopsy of the abdominal skin is deep to the fat layer. The rate can reach more than 95%. The positive rate of amyloid in biopsy of rectal mucosa and submucosal tissue is 60%. The systemic arterioles, venules, tongue, myocardium, smooth muscle and skeletal muscle can all have amyloid deposits. Substantial damage can occur if the wall is involved.
Diagnosis
Diagnosis of primary systemic amyloidosis
The main diagnosis of this disease is clinical manifestations and histopathological examination, characteristic hemorrhagic rash with multiple system damage, especially unexplained cardiac involvement and hepatomegaly, proteinuria should consider the disease, pathological examination of skin and affected tissues It is helpful to see the deposition of amyloid agglomerate, special tissue staining, bone X-ray film, bone marrow examination, urine Bence-Jones protein determination, etc. are helpful to confirm the diagnosis.
Need to pay attention to the identification of diseases such as mucinous edema, lipoproteinosis, etc., nodules should be excluded from nodules.
