A number of inherited and acquired disorders of blood vessels and their supporting connective tissues result in pathologic bleeding. Hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber disease) is an autosomal dominant condition characterized by localized dilation of capillaries and venulae of the skin and mucous membranes. The lesions increase in size and number over a period of decades, often leading to profuse bleeding.
Several inherited vascular disorders are associated with hemorrhage. Ehlers-Danlos syndrome is characterized by hyperplastic fragile skin and hyperextensible joints; it is dominantly inherited. In osteogenesis imperfecta, also a dominant disorder, bone fractures and otosclerosis (leading to deafness) are common. In both conditions, easy bruising and hematomas are common. Pseudoxanthoma elasticum, a recessive disorder, is much rarer but is often complicated by gastrointestinal hemorrhage. Marfan syndrome is sometimes associated with mild bleeding as well as with aortic dissection.
Scurvy, the result of severe ascorbic acid deficiency, is associated with marked vascular fragility and hemorrhagic manifestations resulting from abnormal synthesis of collagen. In addition to the classic findings of perifollicular petechiae and gingival bleeding, intradermal, intramuscular, and subperiosteal hemorrhages are common. Amyloidosis is another acquired disorder in which petechiae and purpura are common.
Excerpted from BCSC 2020-2021 series: Section 1 - Update on General Medicine. For more information and to purchase the entire series, please visit https://www.aao.org/bcsc.