Despite the worldwide prevalence of rare bleeding disorders (RBDs), knowledge of these conditions and their management is suboptimal; health care professionals often have little diagnostic and treatment experience with variable access to diagnostic modalities required for accurate identification. Therefore, patients often experience morbidity and mortality due to delayed diagnosis. As RBDs repr...

background and aims: human t-lymphotropic virus (htlv) is a human retrovirus which has been known to cause adult t-cell leukemia/lymphoma and some other inflammatory disorders. patients with hereditary bleeding diseases are at high risk for these viruses. in this study, we evaluated serological htlv-i/ii infection among these patients in west azerbaijan of iran. material and methods: we studied...

uterine arteriovenous malformations (avms) are relatively rare disorders that can cause life-threatening vaginal bleeding. we describe three childbearing-age females, who had abdominal pain and heavy vaginal bleeding, and were diagnosed as uterine avm by color doppler and angiography. the patients received successful superselective transarterial embolization (tae) with n-butyl cyanoacrylate (nb...

Hereditary amyloid polyneuropathies are rare, heterogeneous group of autosomal dominant disorders and deserve special attention because of its rare presentation, multisystem involvement and significant therapeutic implications if diagnosed early. We report a male patient of hereditary amyloid polyneuropathy from North West India with peripheral nerve, autonomic nervous system, vitreous and card...

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant inherited disease in which abnormal communications between arteries and veins, the so-called telangiectases, occur in the skin, mucosal surfaces, and solid organs [1]. Small telangiectases on the face may present an important cosmetic problem, but larger lesions can be a source of chronic blood loss, systemic emboli, hypoxemia...

background: recombinant activated factor vii induces hemostasis in patients with coagulopathy disorders. aryoseven™ as a safe iranian recombinant activated factor vii has been available on our market. this study was performed to establish the safety of aryoseven on patients with coagulopathy disorder. methods: this single-center, descriptive, cross sectional study was carried out in thrombus an...

An understanding of the possible causes, prevention and treatment of rare, so-called 'orphan disease' requires collaboration in research between different centres with the sharing of information. In the case of neuromuscular disorders (such as muscular dystrophies or hereditary neuropathies) this has been achieved through European collaborative research encouraged and facilitated by the Europea...

Procedures in the field of head and neck surgery can be complicated by haemorrhage post-operative bleeding. Whilst it is commonplace to screen for coagulopathies pre-operative period, rare congenital bleeding disorders difficult detect have significant consequences. We report a case following routine sinus due an undiagnosed haemophilia A 65-year-old male.