Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant genetic disease manifested by formation of telangiectasias and visceral vascular malformations of organ systems, including the skin, lungs, gastrointestinal tract, brain, and liver. Hepatic involvement may lead to portal hypertension, high-output cardiac failure, and biliary strictures.1 Diagnosis requires patients to have 3 o...

Hereditary haemorrhagic telangiectasia (HHT) affects one in 5-8000, and no longer can be viewed as solely causing anaemia (due to nasal and gastrointestinal bleeding) and characteristic mucocutaneous telangiectasia. Arteriovenous malformations commonly occur, and in the pulmonary and cerebral circulations demand knowledge of risks and benefits of asymptomatic screening and treatment. HHT is inh...

Von Willebrand disease (VWD), is the most common hereditary bleeding disorder (HBD) and affects approximately 1–2% of population. Type 1 accounts for 70–80% all cases involves partially reduced levels functional VWF. It usually manifested by mild to moderate mucocutaneous bleeding. A 63-yearold patient with multivessel coronary artery diagnosed Willebrand’s type after a previous NSTEMI infarcti...

BACKGROUND Mutations in endoglin or activin like kinase-1, both involved in the endothelial transforming growth factor-beta signaling pathway, cause the autosomal dominant bleeding disorder hereditary hemorrhagic telangiectasia. We and others have reported mouse models for this disease that share the characteristic phenotype of dilated vessels and sporadic hemorrhage. The reasons for the variab...

Factor XII (FXII), a clotting enzyme that can initiate coagulation in vitro, has long been considered dispensable for normal blood clotting in vivo because hereditary deficiencies in FXII are not associated with spontaneous or excessive bleeding. However, new studies show that mice lacking FXII are protected against arterial thrombosis (obstructive clot formation) and stroke. Thus, FXII could b...

Obscure gastrointestinal bleeding (OGIB) is defined as occult or overt bleeding of unknown origin that persists or recurs despite negative primary radiological and endoscopic studies. It can be classified into two different clinical forms: obscure-overt OGIB, defined as visible passage of blood (ie, melena or hematochezia) and obscure-occult OGIB, manifested by irondeficiency anemia or positive...

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...

In summary, the causes of GI bleeding in infancy and childhood are varied, ranging from congenital and hereditary disorders to those more commonly seen in the adult population. Many causes of GI bleeding in the pediatric population are restricted to a narrow range regarding age of onset, frequently enabling the physician to narrow the differential diagnosis before proceeding with invasive inves...

Routine screening for endometrial carcinoma is currently not justified. Postmenopausal women need to be educated about the importance of seeking attention if any vaginal bleeding occurs. All postmenopausal bleeding requires review and appropriate investigation. Women taking tamoxifen have a higher risk of endometrial cancer and should report any bleeding or spotting; however, ultrasound screeni...

The inheritance of disease is one of the most mysterious and deplorable conditions of humanity. Any suggestions that may tend to throw light on the laws which regulate the development of hereditary diseases, with a view to their prevention or alleviation, cannot fail to interest not only the physician or philosopher, but all mankind; for how few of us can boast of an ancestry entirely free from...