Practice Paper 2: Answers
Anthony B. Starr, Hiruni Jayasena, David Capewell, Saran Shantikumar in Get ahead! Medicine, 2016
Haemophilia A is an X-linked recessive disorder of coagulation in which the patient cannot synthesize clotting factor VIII due to a gene mutation. Haemophilia B (also known as Christmas disease) is caused by an inability to synthesize factor IX and is clinically indistinguishable from the much more common haemophilia A. Although usually familial, a significant proportion of cases are caused by sporadic mutations. Factors VIII and IX are essential in the extrinsic clotting cascade, meaning that patients with haemophilia have a prolonged APTT. The intrinsic pathway does not require factors VIII or IX, and is therefore unaffected by haemophilia – shown by a normal PT. The bleeding time is also normal. Symptoms usually begin when the patient becomes mobile, i.e. when they begin to crawl or walk. Patients with haemophilia typically suffer painful recurrent bleeds into the joints and soft tissues (haemarthrosis), which may eventually lead to crippling arthropathy and neuropathy.
Methods for assigning impairment
Ramar Sabapathi Vinayagam in Integrated Evaluation of Disability, 2019
Hemophilia is a bleeding disorder due to deficiency of particular protein necessary for clotting of blood namely “Factor VIII” and “Factor IX.” Deficiency of factor VIII produces Hemophilia “A” and deficiency of factor IX produces Hemophilia “B.” Hemophilia “A” and “B” are inherited X-linked recessive disorder. Persons with severe hemophilia synthesize less than 1% of normal amount of these factors. Hence, they depend on replacement of factors to prevent bleeding diathesis. A 30%–35% of persons with hemophilia “A” and 1%–3% of persons with hemophilia “B” develop inhibitory antibodies which interfere with the functions of these factors VIII and IX (125). Hemophilia “C” is an autosomal recessive disorder due to deficiency factor XI. The bleeding tendency in “A” and “B” relates mainly to factor level and whereas in “C” the bleeding does not correlate well with the factor levels.
Limbs
Keith Hopcroft, Vincent Forte in Symptom Sorter, 2020
SMALL PRINT: rheumatoid factor, clotting studies/factor VIII assay, arthroscopy. FBC/ESR/CRP: WCC and ESR/CRP raised in infection, systemic inflammatory conditions; Hb may be reduced in the latter.Uric acid: once attack has subsided, useful to add weight to clinical diagnosis of gout (especially if considering treatment with allopurinol).Rheumatoid factor may be useful if symptoms suggest possible RA.X-ray: essential if fracture suspected. May also reveal OA, avascular necrosis, malignancy and help to distinguish between RA and psoriatic arthritis.Sterile aspiration of joint fluid: to look for pus (septic arthritis), blood (haemarthrosis) and crystals (gout/pseudogout).Clotting studies/factor VIII assay: if haemophilia a possibility.Arthroscopy: may be required urgently in secondary care if trauma has resulted in a haemarthrosis.
Haemophilia item bank based on International Classification of Functioning, Disability and Health: a systematic review
Published in Hematology, 2023
Bao-Feng Geng, Chun Feng, Shou-Guo Liu, Zhong-Li Jiang, Feng Lin
Haemophilia is a congenital bleeding disorder in which the person is deficient in clotting factor VIII or factor IX and is categorized into haemophilia A and B accordingly. The clinical hallmark of haemophilia is recurrent spontaneous bleeding episodes, as well as cumulative joint and muscle damage. Persons with haemophilia (PWH) experience intra-articular and intramuscular bleeding, which can enormously affect their quality of life [1,2]. Effective management of multisystemic bleeding in PWH necessitates the collaboration of a multidisciplinary team and the utilization of outcome measures that are easily understood by healthcare professionals. Furthermore, the cost associated with the administration of expensive clotting factor therapy to PWH places a significant financial burden on society; thus, the optimization of resource allocation based on outcomes becomes imperative [3]. In light of these considerations, the development of standardized outcome assessments is crucial for patients, physicians and Medicare payers.
Comprehensive care for haemophilia: A literature review for improving institutional cooperation
Published in International Journal of Healthcare Management, 2021
Sonia Brondi, Laura Palareti, Greta Mazzetti
The first step regarded the search procedure. The review focused on the Haemophilia journal, since this international periodical publication is the official journal of the WFH, thus representing an influential venue for providing readers with an overview of the current state of the art on haemophilia and bleeding disorders at large. Moreover, the aim of this review is in line with the Journal’s scope: Haemophilia is ‘dedicated to the exchange of information regarding the comprehensive care of haemophilia’.1 The main goal of the current paper was to explore how the articles published in Haemophilia apply and describe the notion of CC: that is, whether this notion is coherent with the institutional guidelines previously outlined or, by contrast, it proposes partial or specific views. All the 4,446 articles published since 1995, when Haemophilia was founded, to the end of 2016 were considered for this review. In particular, these articles were selected according to the presence of the words ‘comprehensive’ and ‘care’ within the title or abstract.
Hemophilia A gene therapy: current and next-generation approaches
Published in Expert Opinion on Biological Therapy, 2022
Steven W. Pipe, Gil Gonen-Yaacovi, Oscar G. Segurado
The most common of the 2 main types of hemophilia is hemophilia A, which is caused by decreased activity of plasma coagulation factor VIII (FVIII) due to mutations of the F8 gene encoding this protein. The severity of hemorrhagic episodes tends to correlate directly with the plasma FVIII concentration, with 5% to 40% of normal considered mild, 1% to 5% of normal considered moderate, and less than 1% of normal considered severe [1,7]. In mild hemophilia, bleeding is more likely to occur following trauma or surgery, and unprovoked hemorrhages are rare. In moderate hemophilia, bleeding is usually observed after injuries, but spontaneous bleeding episodes with no obvious cause may also occur. In severe hemophilia, patients experience recurrent spontaneous bleeding events with hemarthroses, bleeding into the muscles and soft tissues, and other life-threatening bleeds (e.g. intracranial hemorrhage), as well as excessive bleeding during and following surgery or trauma. Recurrent hemarthrosis leads to hypertrophic synovitis, progressive cartilage degradation, and hemophilic arthropathy characterized by chronic pain, severe deformity, and reduced mobility [1,7–10].
Related Knowledge Centers
- Bleeding
- Coagulation
- Hemarthrosis
- Hemostasis
- Heredity
- Bruise
- Headache
- Brain
- Genetic Disorder
- Seizure