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Query: UMLS:C0684275 (haemophilia)
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Hemophilia is an inherited bleeding disorder which produces its greatest morbidity in the musculoskeletal system. Musculoskeletal complications of hemophilia include acute hemarthrosis, chronic arthritis and hemophilic arthropathy. We studied the clinical and radiological characteristics of joint involvement in hemophiliacs. Functional loss was also demonstrated. There were 25 patients with a mean age of 17; the mean coagulant factor level was 4.2 percent. All the patients had hemarthrotic attacks. Knees were the most commonly affected joints followed by elbows, ankles and hips. The mean number of involved joints was 3.3. Even the patients with moderate disease had arthropathy. Sixty-four percent of the patients had pain and motion restrictions of the involved joints. Four patients developed intramuscular hematoma. We had patients at several radiological stages of severity. Radiological scores best correlated with age and the total number of involved joints. Various degrees of functional loss, namely disability, were observed. The disability score significantly correlated with the radiological score and age. The results of this study suggest that hemophilic arthropathy is an important problem and that multidisciplinary management is needed. Musculoskeletal care as well as appropriate and timely rehabilitation programs could prevent the development of sequelae.
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PMID:Hemophilic arthropathy: evaluation of clinical and radiological characteristics and disability. 1110 18

With the heightened interest in protocols to prevent or treat complications of haemophilia related to recurrent haemarthroses, there is a need for sensitive joint-evaluation tools. The World Federation of Haemophilia (WFH) Physical Joint Examination instrument, which was developed for persons with haemophilia worldwide, is not sensitive enough to detect early structural or functional abnormalities. Therefore, we have expanded the WFH instrument to detect more subtle abnormalities of joint structure and function, and in addition, developed a new scale specifically tailored to the dynamic growth and gait development of children. We compared the original and three new instruments in 43 children with haemophilia. The three new scales all showed better correlation with the WFH pain instrument than did the original WFH physical examination instrument (P < 0.01 for each of the new instruments vs. P > 0.05 for the WFH instrument). In addition, results of the new child physical examination instrument best conformed to a normal distribution (P=0.35) and this instrument had better overall statistical performance. This instrument should be studied further in prospective, longitudinal clinical trials of young children.
Haemophilia 2000 Nov
PMID:Joint evaluation instruments for children and adults with haemophilia. 1112 91

A questionnaire-based follow-up study of 150 Finnish patients with coagulation disorders was conducted to evaluate the changes in clinical manifestation of the disease, pain intensity, functional disability and patient's health-related quality of life, occurring during a 3-year period. Health-related quality of life was assessed using the MOS-36 health survey. The clinical severity of the disease manifestation was estimated using the frequency of bleeding episodes into joints and soft tissue during the previous 12 months. Severity of musculoskeletal morbidity, which reflects simultaneous presence of pain and disability, was estimated using intensity of pain and level of disability. Results showed that clinical severity of the disease remained unchanged during the 3-year period for the majority of patients. Nonetheless, the annual number of bleeds in patients with severe or moderately severe haemophilia was still disconcertingly high and the number of bleeding episodes into soft tissue had increased. The clinical severity of the disease manifestation, rather than the severity of the disease based on molecular classification, was a factor that negatively influenced the intensity of pain (both acute and chronic), as well as level of disability. Severity of musculoskeletal morbidity at time 1 and changes in severity of musculoskeletal morbidity over time were found to be significant predictors of physical role, bodily pain, vitality and social functioning. In conclusion, the disease can be relatively well controlled by the availability of coagulation products, thus stabilizing the clinical severity of the disease manifestation during the 3-year period studied. The findings stress the importance of preventing haemorrhages to avoid resulting permanent joint impairment and disability.
Haemophilia 2001 Jan
PMID:Clinical severity of disease, functional disability and health-related quality of life. Three-year follow-up study of 150 Finnish patients with coagulation disorders. 1113 82

Dr. Jerry Powell, Director of the Hemophilia Treatment Center at the University of California, provides a clinician's perspective on hepatitis C (HCV) therapy. He believes the Food and Drug Administration's (FDA) approved interferon dosing regimen is not appropriate. Interferon, he believes, should be dosed according to how the virus replicates, which is one to two times each 24-hour period. Dr. Powell uses aggressive screening with new patients, starting with the antibody test and, if the patient also has HIV, with a PCR test. He would like to see a weight-to-dose relationship developed for interferon in order to avoid dosage/weight-related side effects. The worst side effect of interferon is depression, while ribavirin's side effects are primarily related to hemolysis. HCV/HIV coinfected patients are not treated differently in terms of dosing, however, patient contact and blood tests are more frequent with coinfection. A liver biopsy, used as an exclusionary factor, is required prior to the start of interferon; this procedure may be painful, and fear of this pain can be a barrier to having patients agree to the biopsy. Liver transplants are usually done in HCV infection because of low platelet counts and anemia. Even though reinfection of the liver is likely, the disease is very slow which may give the patient 15 to 20 years before treatment may be needed again. As for patients asking about continuing sexual relations, Dr. Powell advises taking universal precautions, particularly if HIV is involved.
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PMID:Treating hepatitis C: a clinician's perspective. Interview by Bob Roehr. 1136 40

We investigated whether haemophilic children who are on prophylactic therapy differ from their healthy peers in terms of motor performance and disability. Thirty-nine children, aged 4-12 years, with moderate (eight) and severe (31) haemophilia were included. Patients with severe haemophilia received primary prophylactic therapy that was individually tailored. The number of target joints, amount of swelling, range of motion, muscular strength and pain were measured, as well as motor skills and disability. The scores were compared to the normal population. No patients had target joints. Normal range of motion in all joints was seen in 97% (38/39) of the patients. Strength of elbow, knee, and ankle muscles were within the normal ranges. Ninety-five percent (37/39) of the patients had normal motor performance. Although 90% of our patients (35/39) had no disabilities in activities of daily living (ADL), 79% (31/39) of them reported that the disease impacted on their lives. Seventy-two percent (28/39) of the patients had pain, and in 21% (6/28) of them this was mainly caused by injections. Restrictions in sports or gymnastics were seen in 56% (22/39) of the patients. Those who indicated that they experienced pain and those who indicated restrictions in sports had a higher chance of experiencing disease impact compared to those who did not have these limitations. There were no significant differences between patients with moderate and severe haemophilia. In general, Dutch children with moderate or severe haemophilia are comparable with their healthy peers with regard to motor performance and ADL. However, a majority of the patients perceive an impact of their disease associated with pain and restrictions in sports.
Haemophilia 2001 May
PMID:Motor performance and disability in Dutch children with haemophilia: a comparison with their healthy peers. 1138 Jun 34

Elective orthopaedic surgery is regularly withheld from patients with haemophilia and high inhibitor titre despite the presence of severe arthropathy and urgent medical need. A knee joint arthroplasty was performed in a patient with severe haemophilia A and a high inhibitor titre using recombinant factor VIIa (rFVIIa) as the sole coagulation factor. There was no abnormal bleeding during surgery although an increased blood loss through surgical drains did occur during the first 6 h postoperatively. Rehabilitation was started on day 1 and continued for 3 months. Walking commenced on day 4. After 1 year of follow-up, the clinical outcome of surgery was considered excellent with no pain, knee mobility at 0-5-90 degrees, and an International Knee Society score of 95/100. No rFVIIa-associated side-effects or thrombotic complications were reported. In conclusion, knee joint arthroplasty is now an option for haemophilia patients with a high inhibitor titre. An international review of all available data on elective orthopaedic surgery in inhibitor patients is required so that the optimal treatment regime can be defined and the short- and long-term risk-benefit ratio of surgery compared to that of noninhibitor patients.
Haemophilia 2001 May
PMID:Knee joint arthroplasty in a patient with haemophilia A and high inhibitor titre using recombinant factor VIIa (NovoSeven): a new case report and review of the literature. 1138 Jun 37

A 13-year-old haemophilia A patient presented with pain in the abdomen, 4 days after a blunt abdominal trauma. The computed tomography scan of the abdomen showed a large splenic haematoma. The patient was initially managed with factor VIII replacement therapy, but 4 weeks later he had a delayed rupture of the splenic haematoma with haemoperitoneum and shock. An elective splenectomy under factor VIII therapy was successfully performed.
Haemophilia 2001 May
PMID:Blunt abdominal trauma with delayed rupture of splenic haematoma in a haemophiliac patient. 1138 Jun 39

Patients with severe haemophilia A growing up before the establishment of prophylactic treatment frequently developed significant haemarthropathies. The goal of the following study was to clarify the role of haemarthropathic pain for haemophilic patients. Furthermore, we aimed to determine to what degree daily activities are influenced by the impairment and which therapeutic modalities are used in pain management. Using a questionnaire we consulted 71 haemophiliacs concerning their complaints and how they were treated in 1999 (average age 43 years; range 21-63 years). The pain in the large joints and spine and the effect of specific treatment was estimated by a visual analogue scale. On average, there were four joints with major pain and 0.5 with minor pain. The most frequent sources of pain were the ankle joints (45%), followed by the knee (39%), spine (14%) and elbow (7%). Fifty percent of all patients complained of pain throughout the day if no treatment was applied. In 29% of patients, pain persisted after application of factor VIII (FVIII), while 12% claimed that pain still remained after use of FVIII and pain killers. Restriction in activities of daily life was reported by 89% of the group and 85% reported on an impact of pain on their mood. Patients primarily used FVIII to decrease pain, followed in frequency by use of anti-inflammatory drugs, orthopaedic footwear, liniments and bandages. Haemophilic patients with haemarthropathy are chronic pain patients. By means of the questionnaire, it is possible to reveal the 'silent' sufferers. Sufficient pain treatment is essential so as to increase the patient's quality of life and avoid inadvertent abnormal postures possibly resulting in increased loading of joints and subsequent bleeding episodes.
Haemophilia 2001 Sep
PMID:Pain status of patients with severe haemophilic arthropathy. 1155 31

The benign vascular tumours known as angioleiomyomas, which originate from smooth muscle cells of arterial or venous walls are rare, particularly in the region of the hand. Frequently, the diagnosis is only made after surgical extirpation and histological assessment. The occurrence of an angioleiomyoma in a haemophiliac has not yet been reported, to our knowledge. A 62-year-old patient with a haemophilia B complained of increasing pain in the vicinity of the soft tissue covering the carpo-metacarpophalangeal joint of his left palm. In the T1-weighted magnetic resonance images a hypointense well-demarcated mass was found, showing a homogeneous enhancement after intravenous application of contrast medium. T2-weighted images showed a hyperintense signal. Based on clinical and radiographic findings, the tumour was initially thought to be a haemophilic pseudotumour arising from a prior local haematoma. Intraoperatively, the mass was found to be solid, and histological assessment diagnosed an angioleiomyoma, without signs of malignant transformation. Descriptions of the clinical symptoms of angioleiomyoma in an extremity vary considerably in the literature. Although rare, the vascular leiomyoma should therefore be contemplated in the differential diagnosis in patients with a solid nodular lesion of unclear aetiology in arms or legs. Especially in a haemophiliac patient, the growth can easily be mistaken for a pseudotumour because of its clinical and radiological similarities.
Haemophilia 2001 Sep
PMID:Soft-tissue angioleiomyoma of the hand as a rare differential diagnosis of haemophilic pseudotumour. 1155 47

Chemical synovectomy has been used for the last three decades as an alternative for surgical synovectomy in the treatment of chronic haemophilic synovitis. Comparable results have been obtained with the many different radionuclides used: decreased bleeding, decreased pain and stable range of motion, in more than 50% of treated patients. Yttrium 90Y and Phosphorus 32P seem to be the isotopes of choice. Osmic acid and rifampicine have been used in a relatively small number of subjects. Global result of treatment with these two pro-ducts seems to be less favourable than with radionuclides. Late effects of chemical synovectomy are not known.
Haemophilia 2001 Jul
PMID:Chemical synovectomy in haemophilia: status and challenges. 1156 39


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