A boy, aged 2 years and 5 months, had recurrent epistaxis, and the coagulation function examination showed that activated partial thromboplastin time (APTT) was significantly prolonged. Further laboratory examinations showed that the prolonged APTT was not immediately corrected in the APTT correction test, with positive lupus anticoagulant and low prothrombin activity. The boy was diagnosed with hypoprothrombinemia-lupus anticoagulant syndrome. The condition was improved after treatment with glucocorticoid, immunoglobulin, and vitamin K₁. The boy has been followed up for 6 months, and no epistaxis was observed. Prothrombin activity returned to normal, and lupus anticoagulant remained positive. This is a relatively rare disease, and for patients with bleeding symptoms and coagulation disorders, it is recommended to perform the tests such as APTT correction test, lupus anticoagulant testing, and coagulation factor dilution test, which can improve the detection rate of this disease, so as to achieve early diagnosis, provide rational treatment in the early stage, and improve the prognosis.
Antiphospholipid Syndrome/diagnosis* ; Blood Coagulation Disorders ; Child, Preschool ; Epistaxis/etiology* ; Humans ; Hypoprothrombinemias/diagnosis* ; Lupus Coagulation Inhibitor ; Male ; Partial Thromboplastin Time ; Prothrombin

OBJECTIVETo deepen the understanding of clinical manifestations and treatment of patients with positive lupus anticoagulant (LAC).

METHODSThe clinical data of 2 patients were analyzed and related literature were reviewed.

RESULTSCase 1, a 31-year-old female, diagnosed as lupus anticoagulant positive, secondary to undifferentiated connective tissue disease, was presented with menorrhagia and thrombocytopenia. Anti-nuclear antibody (ANA) was positive 1:1000 (homogeneous type) with anti-double stranded DNA positive, and dRVVT LA1/LA2 was 3.4. Coagulation function was alleviated after treatment with glucocorticoid and total glucosides of paeony. Case 2, a 59-year-old female was presented with gingival bleeding, hematuria with the level of F II:C 13%. dRVVT LA1/LA2 was 2.0. Anti-nuclear antibody (ANA) was positive 1:1000 (type of cytoplasmic granule), anti-double stranded DNA was positive. The patient was diagnosed as hypoprothrombinemia-lupus anticoagulant syndrome (LAHS) and acquired coagulation factor deficiency. The signs of hemorrhage were alleviated after treatment with methylprednisolone 40 mg/day and cyclophosphamide, while the level of F II:C was below normal.

CONCLUSIONSymptoms of patients with positive LAC are variable. The diagnosis relies on history of disease and laboratory test. Currently, there is no standardized treatment. Cases of LAHS should be thoroughly investigated for any known causes and related disorder.

Adult ; Blood Coagulation ; Cyclophosphamide ; therapeutic use ; Female ; Glucocorticoids ; therapeutic use ; Hematologic Tests ; Hemorrhage ; Humans ; Hypoprothrombinemias ; diagnosis ; Lupus Coagulation Inhibitor ; blood ; Methylprednisolone ; therapeutic use ; Middle Aged

Lupus anticoagulant-hypoprothrombinemia syndrome (LAHPS), a very rare disease that is caused by the presence of antifactor II antibodies, is usually counterbalanced by the prothrombotic effect of lupus anticoagulant (LAC). Patients with LAHPS are treated using fresh frozen plasma, steroids, immunosuppressive agents, and immunoglobulins for managing the disease and controlling hemorrhages. Notably, steroids are the important treatment for treating hypoprothrombinemia and controlling the bleeding. However, some patients suffer from severe, life-threatening hemorrhages, when factor II levels remain very low in spite of treatment with steroids. Here, we report a case of LAHPS in a 15-year-old girl who experienced pulmonary hemorrhage with rapid progression. She was referred to our hospital owing to easy bruising and prolonged bleeding. She was diagnosed with LAHPS that presented with pancytopenia, positive antinuclear antibody, proloned prothrombin time, activated partial thromboplastin time, positive LAC antibody, and factor II deficiency. Her treatment included massive blood transfusion, high-dose methylprednisolone, vitamin K, and immunoglobulin. However, she died due to uncontrolled pulmonary hemorrhage.
Adolescent ; Antibodies ; Antibodies, Antinuclear ; Blood Transfusion ; Female ; Hemorrhage* ; Humans ; Hypoprothrombinemias* ; Immunoglobulins ; Immunosuppressive Agents ; Lupus Coagulation Inhibitor* ; Methylprednisolone ; Pancytopenia ; Partial Thromboplastin Time ; Plasma ; Prothrombin ; Prothrombin Time ; Rare Diseases ; Steroids ; Vitamin K

The lupus anticoagulant-hypoprothrombinemia syndrome, characterized by presence of lupus anticoagulant with acquired factor II deficiency, is a rare disease entity often presented with acute bleeding episodes. A 15-year-old girl was hospitalized with 3 month history of menorrhagia and easy bruising. Prothrombin time (31.3 sec, normal value: 10-13 sec) and activated partial thromboplastin time (72.5 sec, normal value: 27.5-34.7 sec) were markedly prolonged and partially corrected after mixing with normal plasma. Decreased Factor II activity (4%, normal range: 79-131%) or prolonged dilute Russell's viper venom time (89.8 sec, normal value: 25.4-34.3 sec), was consistent with lupus anticoagulant-hypoprothrombinemia syndrome. Antinuclear antibody, anti-double strand-DNA antibodies and anticardiolipin antibodies were also positive. Bleeding diathesis tends to wax and wane while 5 years of treatment with steroid combined with immunosuppressants, however, there was no more active bleeding episodes. Several years after diagnosis, myocarditis, pericarditis, seizure was occurred, fulfilled the diagnostic criteria of systemic lupus erythematosus.
Adolescent ; Antibodies ; Antibodies, Anticardiolipin ; Antibodies, Antinuclear ; Diagnosis ; Disease Susceptibility ; Female ; Hemorrhage ; Humans ; Hypoprothrombinemias ; Immunosuppressive Agents ; Lupus Coagulation Inhibitor ; Lupus Erythematosus, Systemic ; Menorrhagia ; Myocarditis ; Partial Thromboplastin Time ; Pericarditis ; Plasma ; Prothrombin ; Prothrombin Time ; Rare Diseases ; Reference Values ; Seizures

Adolescent ; Adult ; Amino Acid Sequence ; Genotype ; Homozygote ; Humans ; Hypoprothrombinemias ; etiology ; genetics ; Male ; Middle Aged ; Molecular Sequence Data ; Mutation ; Pedigree ; Phenotype ; Young Adult

The most common local cause of active gingival bleeding is the vessel engorgement and erosion by severe inflammation. Abnormal gingival bleeding is also associated with the systemic disturbances. Hemorrhagic disorders in which abnormal gingival bleeding is encountered include the following: vascular abnormalities (vitamin C deficiency or allergy), platelet disorders, hypoprothrombinemia (vitamin K deficiency resulting from liver disease), and other coagulation defects (hemophilia, leukemia). There are many conventional methods for gingival bleeding control, such as, direct pressure, electrocoagulation, direct suture, drainage, application of hemostatic agents and crushing and packing. If the active continuous gingival bleeding is not stopped in spite of the application of all conventional bleeding control methods, the life of patient is threatened owing to upper airway obstruction, syncope, vomiting and hypovolemic shock. Therefore, the rapid and correct hemostatic method is very important in the emergency dental care.
Airway Obstruction ; Blood Platelets ; Crowns ; Dental Care ; Drainage ; Electrocoagulation ; Emergencies ; Glycosaminoglycans ; Hemorrhage ; Hemorrhagic Disorders ; Humans ; Hypoprothrombinemias ; Inflammation ; Liver ; Liver Cirrhosis ; Shock ; Sutures ; Syncope ; Vomiting

The presence of lupus anticoagulant is associated with an elevated risk of venous and arterial thrombosis, and recurrent miscarriages as well. For some cases, this disease can present with bleeding as a consequence of lupus anticoagulant hypoprothrombinemia (LAHPS). LAHPS is a rare disease and it is reported to be most frequent in young females with/without systemic lupus erythematosus or in healthy children who are suffering with a viral infection. In such cases, steroid therapy is usually effective in normalizing the biological abnormalities and controlling the bleeding problems. A 34-year-old previously healthy man was admitted to our department because of his prolonged coagulation times; these abnormalities were discovered before performing orthopedic surgery. The prothrombin time (PT) was 15.2 sec, and the activated partial thromboplastin time (APTT) was 37.7 sec. A 1:1 dilution of patient plasma with normal plasma nearly corrected the PT, but this failed to correct the APTT. Evaluation of the clotting factors revealed decreased levels of factors II, V, VIII, IX and XI. The presence of LA was demonstrated by the dRVVT test, and the patient was diagnosed with LAHPS. He was successfully treated with corticosteroid before performing the orthopedic surgery.
Adrenal Cortex Hormones/therapeutic use ; Adult ; Humans ; Hypoprothrombinemias/*diagnosis/drug therapy/immunology/physiopathology ; Lupus Coagulation Inhibitor/*immunology ; Lupus Erythematosus, Systemic/*diagnosis/immunology/physiopathology ; Male ; Partial Thromboplastin Time ; Preoperative Care ; Prothrombin Time

Vitamin K is a lipid-soluble vitamin used in the treatment of hypoprothrombinemia found in diseases of the liver, biliary tract and small intestine. Vitamin K1 (Phytonadione) is the natural form of vitamin K. Recently, a cream containing vitamin K1 has been marketed for topical use in the treatment of periorbital hyperpigmentation, telangiectasia and rosacea. Vitamin K1 dermatitis is a cutaneous adverse reaction to vitamin K1 and can cause acute pruritic, erythematous, eczematoid, indulated plaques or slowly-appearing sclerodermatous plaques. We present a case of dermatitis caused by a vitamin K1 intralesional injection for treatment of facial telangiectasia and flushing.
Biliary Tract ; Dermatitis* ; Flushing ; Hyperpigmentation ; Hypoprothrombinemias ; Injections, Intralesional* ; Intestine, Small ; Liver ; Rosacea ; Telangiectasis ; Vitamin K ; Vitamin K 1* ; Vitamins*

OBJECTIVETo investigate the gene mutations in a pedigree with inherited prothrombin (FII) deficiency.

METHODSThe activated partial thromboplastin time (APTT), prothrombin time (PT), FII activity (FII:C) and FII antigen (FII:Ag) test were used for phenotype diagnosis. The genomic DNA was extracted from the peripheral blood of the propositus. All the 14 exons, intron/exon boundaries and the 5' and 3' untranslated regions (UTR) of the prothrombin gene were amplified by polymerase chain reaction (PCR). The PCR products were screened by direct sequencing and the mutations detected were further confirmed by restricted enzyme digestion. One hundred and three healthy blood donors were used as controls.

RESULTSThe phenotype of the propositus was prothrombin deficiency (type I). With reference to the prothrombin nucleotide sequence published by Degen & Dacie, three variations were found in the FII gene of the propositus. Among them, the novel mutation was a homozygous A601G subtitution in exon 2.

CONCLUSIONThe prothrombin deficiency of the propositus is caused by a homozygous Glu29 to Gly mutation in the prothrombin gene.

Blood Coagulation ; Child ; Female ; Humans ; Hypoprothrombinemias ; blood ; genetics ; Point Mutation ; Prothrombin ; genetics

We report a case of SLE with antiphospholipid antibodies presented initially with severe bleeding. A six-year-old boy was admitted due to severe nasal bleeding for 2 months. The boy showed typical malar rash. The laboratory tests indicated that his platelet count was 80,000/mm3 and the PT and the aPTT were markedly prolonged. A number of clotting factors were decreased, including factorsll<12%, Vll: 42%, lX : 38%, Xl: 41%, and Xll: 16%. Urinalysis showed hematuria and proteinuria, and 24-hour urine protein was 1.37g/day. Venereal Disease Research Laboratory (VDRL) test was false positive, Coombs test, lupus anticoagulants and anticardiolipin antibodies (IgG and IgM) were positive. His symptoms and laboratory tests fulfilled the criteria of SLE with antiphospholipid antibody. Renal pathology showed lupus nepritis (diffuse proliferative glomerulonephritis, class lV). After steroid therapy, his nasal bleeding stopped immediately, and laboratory findings became normalized. This case showed the tendency of paradoxic bleeding, instead of the expected thrombosis which can be found in this type of patient. We anticipate it is mainly due to pronounced prothrombin deficiency.
Antibodies, Anticardiolipin ; Antibodies, Antiphospholipid* ; Anticoagulants ; Coombs Test ; Epistaxis ; Exanthema ; Glomerulonephritis ; Hematuria ; Hemorrhage* ; Humans ; Hypoprothrombinemias ; Lupus Erythematosus, Systemic* ; Male ; Pathology ; Platelet Count ; Proteinuria ; Sexually Transmitted Diseases ; Thrombosis ; Urinalysis