Mild hereditary bleeding disorders presenting with mucocutaneous haemorrhages are usually difficult to diagnose. We measured thrombin generation in platelet-poor plasma (TG-PPP) in 206 patients with a clinically unequivocal bleeding tendency: 45 with von Willebrand disease (vWD), 49 with platelet aggregation/secretion defects (PASD), 10 with a combination of both and 102 who did not fit the dia...

introduction: maxillary osteomyelitis is a rare phenomenon. if it occurs, evaluation for underlying disease especially osteopetrosis must be considered. osteomyelitis occurs as a complication in 10% of the cases of osteopetrosis. case report: this is a case report of maxillary osteomyelitis presented in a 15-year old boy with osteopetrosis.  in this case, the disease represented mainly with fac...

Hereditary Haemorrhagic Telangiectasia, also known as Osler-Rendu-Weber disease is a rare autosomal dominant disorder affecting small vessels of multiple systems whose main pathological change is the presence of abnormal arteriovenous communications. Usually presents as skin and mucosal telangiectasias, epistaxis, gastrointestinal bleeding and visceral arteriovenous malformations. Although the ...

Hereditary Haemorrhagic Telangiectasia also known as Osler-Rendu-Weber disease is a rare autosomal dominant disorder affecting small vessels of skin and mucosa, usually misdiagnosed because of its non specific symptomatology. This disease usually presents as epistaxis, gastrointestinal bleeding and visceral arteriovenous malformations. Although the epistaxis and gastrointestinal blood loss can ...

inhibitor development is a lifelong challenge for patients with bleeding disorders who received replacement therapy. most commonly, inhibitor formation was observed in hemophilia a patients but patients with rare bleeding disorders (rbd) especially patients with deficiency of factor xiii (fxiii) and factor v (fv) can develop an inhibitor against exogenous factors. several factors considered as ...

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...

Factor VII (FVII) deficiency is an infrequent hereditary bleeding disorder that can make excessive bleeding in surgical interventions, such as a postpartum hemorrhage in a cesarean section. Although a recombinant form of activated FVII has been applied for bleeding control in FVII-deficient patients, its applications in the field of obstetrics are still limited, especially in Korea. Replacement...

Osler–Weber–Rendu syndrome, also known as Hereditary Hemorrhagic Telangiectasia (HHT), is an autosomal dominant disorder. Telangiectasias and Arterio-Venous Malformations (AVMs) are vascular lesions present in HHT, most commonly causing epistaxis and gastrointestinal bleeding. While epistaxis presents as early as childhood, the gastrointestinal manifestations of HHT develop with increasing age.

Whereas many healthy people consider their bleeding and bruising excessive, patients with underlying von Willebrand disease, the most common hereditary bleeding disorder, often fail to identify their bleeding symptoms. Therefore, it is necessary to ask for specific information from patients about bleeding and bruising (Is the patient easily bruised? What is the size of the bruises? If the patie...