Alpha-reservoir disease
Introduction
Introduction to -storage disease Alpha-storage pool disease (-SPD) has mild hemorrhage since childhood, prolonged bleeding time, thrombocytopenia, platelet and megakaryocyte morphology abnormalities, cytoplasmic granules are significantly reduced, and platelets are present on Wright's stained blood smear Gray, hence the name "grey platelet syndrome." basic knowledge Sickness ratio: 0.0001% Susceptible people: no special people Mode of infection: non-infectious Complications: blood in the stool, coma
Cause
Alpha-storage disease
Causes:
For autosomal dominant inheritance, platelet alpha particle content such as PF4, -TG, fibrinogen, thrombin sensitive protein, vWF, fibronectin, etc. are reduced, plasma platelet-specific proteins such as -TG and PF4 are normal or Increased, megakaryocyte immunoelectron microscopy showed that vWF, PF4 and other synthesis is normal, suggesting that the disease is caused by the inability of the synthesized protein to be stored in alpha particles.
Pathogenesis:
Since alpha particles cannot package and retain PF4 and -TG and platelet-derived long factor (PDGF), resulting in elevated plasma PF4, -TG concentrations, and direct release of PDGF into the bone marrow stroma, leading to normal or elevated myelofibrosis.
Prevention
Alpha-storage prevention
prevention:
Establish genetic counseling to strictly pre-marital examinations, strengthen prenatal diagnosis, and reduce the birth of children.
DDAVP can shorten bleeding time and enhance hemostasis in some patients. Patients with severe bleeding are effective in transfusion of platelets.
Complication
Alpha-storage disease complications Complications, blood in the stool, coma
The disease is due to the reduction of platelets, which may cause coagulopathy due to thrombocytopenia. Patients may have complications such as mucous membrane of the skin. For severe patients, there may be hematemesis and blood in the stool, which may cause massive bleeding in the digestive tract leading to anemia and even acute hemorrhagic shock. Very few patients can have intracranial hemorrhage, intracranial hypertension, and even coma.
Symptom
Alpha-storage disease symptoms common symptoms thrombocytopenia brushing bleeding nosebleed bone marrow megakaryocyte maturation disorder
The main manifestation is bleeding, but the general symptoms are mild.
Examine
Alpha-storage check
1. Platelets are mild to moderately reduced, vary in size, and have a slight increase in mean diameter. They are gray-like ghost-like in the multi-tropic stained blood smear, oval.
2. The bleeding time is prolonged.
3. Bone marrow: reticular fibrosis.
4. Plasma PF4 and -TG concentrations are normal or elevated.
5. The aggregation reaction of platelets to ADP, adrenaline, ristocetin, etc. is normal or near normal, and collagen or thrombin aggregation is often lacking.
6. The content of platelet particles PF4, -TG, fibrinogen, vWF, coagulation factor V, fibronectin and TSP were significantly reduced, and the contents of dense particles S-HT, ATP and ADP were normal.
Diagnosis
Diagnosis of -storage pool disease
According to clinical manifestations, laboratory tests confirmed the diagnosis.
The disease should be differentiated from Quebec platelet disease, a newly discovered hereditary platelet function-deficient disease, both with a variety of platelet glycoprotein abnormalities and thrombocytopenia, but Quebec platelet disease is autosomal dominant. Its alpha particle morphology is normal, adrenergic-induced platelet aggregation is absent, muhimerin is lacking, and platelet transfusion is ineffective.
