Cryptogenic organic pneumonia (COP) refers to organic pneumonia that has not been identified a clear cause by current medical methods. A small proportion of COP can exhibit severe and progressive characteristics, while severe COP can cause systemic inflammatory storms and can be secondary to hemophilia. This article reported a case of acute severe COP secondary to hemophilia. A 67-year-old male patient was admitted to the hospital due to cough, shortness of breath, and fever. At first, he was misdiagnosed as severe pneumonia, but failed to receive anti infection treatments. Sputum pathogenetic examination and Macrogene testing of alveolar lavage fluid were performed, and no etiology was found to explain the patient's condition. The condition was gradually worsened and hemophilia occurred to explain, suggesting that acute severe COP was relevant. After receiving hormone treatment, the condition gradually relieved and the absorption of lung lesions improved. Hemophilia secondary to COP is rare, and the specific mechanism needs further study.
Male ; Humans ; Aged ; Hemophilia A/complications* ; Pneumonia/diagnosis* ; Bronchoalveolar Lavage Fluid ; Cough ; Dyspnea/etiology*

OBJECTIVETo explore the pathogenetic mechanism for a female patient affected with hemophilia A (HA).

METHODSPotential genetic defect was detected with inverse shifting-polymerase chain reaction (IS-PCR). The pattern of X chromosome inactivation was determined with a human androgen receptor assay (HUMARA assay). G-banded karyotyping was carried out to exclude potential chromosome aberrations.

RESULTSIS-PCR showed that the defect of FVIII gene was the distal type of intron 22 inversion. The HUMARA assay showed that the X chromosome inactivation was non-random, and that the mother's X chromosome activity was lower than that of the father's X chromosome which has carried the inverted FVIII gene. No abnormalities were found with G-banded chromosomes.

CONCLUSIONThe prevalence of female HA patient may be caused by non-random inactivation of X chromosomes.

Adolescent ; Female ; Hemophilia A ; etiology ; genetics ; Humans ; Karyotyping ; Polymerase Chain Reaction ; Receptors, Androgen ; analysis ; X Chromosome Inactivation

BACKGROUND/AIMS: Chronic hepatitis C (CHC) is a major comorbidity in patients with hemophilia. However, there are no published data on the efficacy of antiviral therapy in Korea. We assessed the safety and efficacy of combination therapy with peginterferon alpha-2a plus ribavirin for CHC in hemophilia. METHODS: Patients (n=115) were enrolled between March 2007 and December 2008. Seventy-seven patients were genotype 1 or 6, and 38 patients were genotype 2 or 3. We evaluated rapid virologic responses (RVRs), early virologic response (EVRs), end-of-treatment response (ETRs), sustained virologic response (SVRs), and relapses. Safety evaluations included adverse events and laboratory tests. RESULTS: Eleven patients were excluded from the study because they had been treated previously. Among the remaining 104 treatment-naive patients, RVR was achieved in 64 (60.6%), ETR was achieved in 95 (91.3%), and SVR was achieved in 89 (85.6%). Relapse occurred in eight patients (8.9%). Common adverse events were hair loss (56.7%) and headache (51.0%). Common hematologic adverse events were neutropenia (22.1%), anemia (27.9%), and thrombocytopenia (3.8%). However, there were no serious adverse events such as bleeding. RVR was the only predictor of SVR in multivariate analysis. CONCLUSIONS: Peginterferon alpha-2a plus ribavirin combination treatment produced a favorable response rate in CHC patients with hemophilia without serious adverse events.
Adult ; Aged ; Antiviral Agents/adverse effects/*therapeutic use ; Drug Therapy, Combination ; Fatigue/etiology ; Female ; Genotype ; Headache/etiology ; Hemophilia A/*complications ; Hepacivirus/genetics ; Hepatitis C, Chronic/complications/*drug therapy/virology ; Humans ; Interferon-alpha/adverse effects/*therapeutic use ; Liver/pathology ; Male ; Middle Aged ; Neutropenia/etiology ; Polyethylene Glycols/adverse effects/*therapeutic use ; RNA, Viral/blood ; Recombinant Proteins/adverse effects/therapeutic use ; Recurrence ; Republic of Korea ; Ribavirin/adverse effects/*therapeutic use ; Treatment Outcome

OBJECTIVETo investigate the characteristics of ultrasonography in haemophilic arthropathy in knee joints.

METHODSThe knee joints (n=135) of 68 patients with haemophilia A (n=59) or haemophilia B (n=9) were consecutively evaluated with ultrasonography and scored according to MELCHIORRE ultrasound score. The correlations between ultrasound score and the number of knee joint bleeding episodes, age, and World Federation Haemophilic orthopedic (WFHO) score were studied.

RESULTS68 male patients with median age 20 (3-48) years old were enrolled in this study. The prevalences of hydrops articuli, fibrotic septa, synovial hypertrophy, synovial hypertrophy with angiogenesis, haemosiderin deposition were 39.2% (53/135), 3.0% (4/135), 77.0% (104/135), 49.6% (67/135), 37.8% (51/135), respectively; and the prevalences of cartilage damage, bone erosion, bone remodeling, osteophytes were 63.7% (86/135), 48.1% (65/135), 3.0% (4/135), 13.3% (18/135) respectively. The average ultrasound score was 5.21[95% CI (4.50-5.93)]. The ultrasound score of knees joints according to age 0-6, 7-18 and > 18 years old groups were 0.63[95% CI (0.15-1.10)], 2.88[95% CI (1.90-3.85)], 7.83[95% CI (7.07-8.60)], respectively; and the difference among groups was statistically significant (P<0.01). The significant difference of ultrasound score was not found among moderate, mild and severe haemophilia (F=0.90, P=0.914). A significant positive correlation between ultrasound and WFHO scores was demonstrated (r=0.745, P<0.01). The ultrasound score increased significantly with the increase of number of knee bleed Episodes (F=49.926, P<0.01).

CONCLUSIONThe main characteristics of ultrasonography of haemophilic arthropathy in knee joints were identified as followings: synovial hypertrophy, cartilage damage, bone erosion, hydrops articuli, and haemosiderin deposition. Ultrasonography was a fast, effective, safe, and available inspection method in assessment of haemophilic arthropathy.

Adolescent ; Adult ; Child ; Child, Preschool ; Hemophilia A ; complications ; Hemophilia B ; complications ; Humans ; Joint Diseases ; diagnostic imaging ; etiology ; Knee Joint ; diagnostic imaging ; Male ; Middle Aged ; Ultrasonography ; Young Adult

The factor VIII gene is located on the X chromosome,making haemophilia A, a sex-linked disorder. Thus on pedigree grounds all daughters of such patients are obligate carriers. One female case of haemophilia A was reported and related literatures were reviewed.
Child ; Chromosomes, Human, X ; Epistaxis ; etiology ; genetics ; Factor VIII ; Female ; Hemophilia A ; complications ; genetics ; Humans

OBJECTIVETo evaluate the amount of blood loss and the efficacy of clotting factor in controlling blood loss during total knee arthroplasty.

METHODSThe medical documents of 18 patients with haemophilic arthritis (HA) secondary to haemophilia A and 19 patients with osteoarthritis (OA) were retrospectively reviewed. Demographic data,functional and hematological test results,the amount of blood loss and transfusion,and complications were analyzed.

RESULTSThe median amounts of total and external blood loss were 2240 ml(1892-3415 ml) and 1326 ml(934-2256 ml)in the HA group, which were significant higher than those in the OA group [1746 ml(1259-2246 ml)and 846 ml (504-1217 ml), respectively]. The median amounts of external blood loss in the two groups were 680 ml(370-1330 ml)and 730 ml(200-1190 ml)and there was no significant difference(p=0.620). Moreover, more patients in the HA group required blood transfusion (84.2% vs. 47.4%), and more red cells were transfused per patient in the HA group (2.3 U vs. 0 U).

CONCLUSIONSThe total blood loss and hidden blood loss are higher in the HA patients than in OA patients during total knee arthroplasty, although the external blood loss is basically the same. Management with more clotting factor may decrease the blood loss in HA patients.

Adolescent ; Adult ; Arthritis ; etiology ; surgery ; Arthroplasty, Replacement, Knee ; Hemophilia A ; complications ; Humans ; Male ; Middle Aged ; Osteoarthritis, Knee ; surgery ; Postoperative Hemorrhage ; Retrospective Studies ; Young Adult

Age Distribution ; Blood Coagulation Factors ; therapeutic use ; Child ; Child, Preschool ; Developed Countries ; Developing Countries ; Factor VIII ; therapeutic use ; Hemarthrosis ; epidemiology ; etiology ; prevention & control ; Hemophilia A ; complications ; drug therapy ; epidemiology ; Humans ; Intracranial Hemorrhages ; epidemiology ; etiology ; prevention & control ; Joint Diseases ; prevention & control ; Quality of Life ; Severity of Illness Index

OBJECTIVETo analyze the clinical characteristics and effects of rehabilitation treatment on hemophiliacs with iliopsoas hemorrage.

METHODSThe hemophilia patients with iliopsoas bleeding treated in Peking Union Medical College Hospital between January 2006 to December 2010 were enrolled. The clinical characteristics including symptoms, signs, complications, and rehabilitation treatment were analyzed retrospectively.

RESULTSAll of the forty-one hemophiliacs with iliopsoas bleeding were male, 20 cases wee the left bleeding, 18 the right, and 3 the bilateral. The median median age was 18 (6 - 61) years old(y). The median age of the iliopsoas bleeding for the first time was 17 (6 - 20) y. 34 patients accompanied with femoral nerve injury, 19 of them had secondary knee bleeding on the same side. 20 patents had quadriceps atrophy. Pelvic pseudotumor developed in 2 patients and permanent abnormal posture in 2 patients. The main finding of the ultrasound image was low-echo mass in iliopsoas muscles or inguinal region. 34 patients received rehabilitation therapy for 8 - 12 weeks under the support of factor replacement, complete hematomas absorption in 33 of them, with hip range of motion recovering back to baseline. 27 of 32 (84.4%) cases with femoral nerve injury got quadriceps strength above 4/5 grade, 20 cases of femoral nerve injury (62.5%) still had numbness on front of their thigh after treatment.

CONCLUSIONSIn this cohort of iliopsoas bleeding, most of the patients are adolescent. High prevalence of the femoral nerve injury and the secondary knee bleeding are found. Rehabilitation treatment under the support of factor replacement is safe and effective on hematoma absorption and neurological function recovery.

Adolescent ; Adult ; Child ; Hematoma ; etiology ; rehabilitation ; Hemophilia A ; complications ; rehabilitation ; Hemorrhage ; etiology ; rehabilitation ; Humans ; Male ; Middle Aged ; Muscular Diseases ; diagnosis ; etiology ; rehabilitation ; Psoas Muscles ; physiopathology ; Retrospective Studies ; Young Adult

Epistaxis ; diagnosis ; etiology ; Hemophilia B ; complications ; diagnosis ; Humans ; Male ; Young Adult

OBJECTIVETo investigate the molecular mechanism of a Chinese hemophilia A patient in whom there was a discrepancy between the clinical bleeding symptoms and laboratory assay of FVIII activity (FVIII: C).

METHODSFVIII: C was detected by chromogenic and one-stage methods, and FVIII: Ag by ELISA. The APTT corrected test was used to screen the FVIII inhibitor and PCR amplification to analyze all the exons and flanking sequences of F8 gene of the proband, PCR products were purified and sequenced directly. The corresponding gene sites of family members were detected according to the gene mutation sites. Two B domain deleted human FVIII mutant expression plasmids His99Arg and His99Ala (pRC/RS V - BDhFVIIIcDNA) were constructed and transfected into HEK293T transiently. FVIII: Ag and FVIII: C of the expression products were assayed.

RESULTSThe proband APTT was prolonged, FVIII: Ag was 120% but FVIII: C <1% and no FVIII inhibitor in plasma. The results of anticoagulation and fibrinolytic functions were normal. The cross reacting material positive (CRM+) hemophilia A was diagnosed. Gene analysis revealed a A28828G substitution in exon 3 resulted in a H (His) to R (Arg) missense mutation and the same heterozygous was identified in his mother. In vitro expression of FVIII: Ag and FVIII: C of His99Arg were 180.0% and 5.8% , respectively, while FVIII: Ag and FVIII: C of His99Ala were 45.0% and 20.0% of that of wild type, respectively. His99Arg and His99Ala were diagnosed as CRM+ and CRM- mutations, respectively.

CONCLUSIONBoth the two F VIII mutations could express FVIII protein. However, CRM His99Arg mutant protein has little FVIII procoagulant activity and His99Ala has reduced FVIII function by routine methods.

Adult ; DNA Mutational Analysis ; Factor VIII ; genetics ; Genotype ; Hemophilia A ; etiology ; genetics ; Humans ; Male ; Mutation, Missense