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Chapter 128 Clinical Approach to the Patient With Bleeding or Bruising 1915

CLINICAL MANIFESTATIONS a bruise, imaging (e.g., with ultrasound) may be necessary to exclude
bleeding into deeper tissues.
Age of Presentation and Extent of Symptoms Bruising symptoms (that are normal or abnormal) can fluctuate
over time, depending on activity levels and exposure to drugs or
Inherited bleeding disorders can present at any age, but if severe, a trauma that increase the risk of bruising (e.g., increased bruising
bleeding disorder typically presents at a younger age. 1,3,6,7,26 Milder when moving house, traveling, or engaging in physical sports; bruis-
disorders can present at any age and may require a significant hemo- ing in a toddler who just started walking; worsened bruising after
static challenge to come to medical attention, often a major surgical initiating antidepressant therapy). Like normal bruising, bruising
procedure or a dental extraction. 1,3,6,7,26 Women with mild, moderate, from bleeding disorders usually occurs at sites that are commonly
or severe inherited bleeding disorders may present with troublesome exposed to trauma (e.g., lower limbs, outer hips, arms). However,
bleeding at the onset of menses or with childbirth-related bleed- bruising with acquired hemophilia A may be extensive and involve
ing. 1,3,7,26 When the bleeding risk is only mildly increased (e.g., low other regions (e.g., the trunk). This type of bruising is most often
von Willebrand factor levels without other defects, mild inherited autoantibody related because it does not occur in congenital hemo-
platelet secretion defects), there may be a history of bleeding with philia, even if there is an inhibitor.
some, but not all, hemostatic challenges. 1,3,9 Skin examination sometimes reveals bruising associated with skin
The severity of the bleeding disorder affects the number, severity, pigmentation changes from iron deposition. This is typical of repeated
and type of manifestations. Numerical scores, derived from standard- bleeds in persons with severe platelet function disorders or moderate
ized bleeding-history assessment tools, show considerable overlap to severe forms of von Willebrand disease. These pigment changes
4,5
among subjects with different disease severities. Although use of a are typically localized to sites of recurrent trauma (e.g., anterior
standardized tool to quantify bleeding symptoms has been recom- shins), and the distribution (which can be spotty) helps to distinguish
mended by the International Society on Thrombosis and Haemosta- the finding from the pigmentation associated with venous stasis.
6
sis, the tool requires further prospective validation before it is used Petechiae and/or oral blood blisters are typical of severe thrombo-
in routine clinical practice. cytopenia and are less commonly seen in other conditions, including
severe platelet function disorders. Scurvy can cause perifollicular
hemorrhage (often on the shins), bruising, and gum bleeding, typi-
Family History and Syndromic Disorders cally with associated swelling and redness. Schamberg disease is a
pigmented purpuric dermatitis that does not represent a bleeding
It is important to consider that the family history of an inherited problem and can be mistaken for petechiae. Early lesions of purpura
bleeding disorder is influenced by the disorder severity, the mode of fulminans, from congenital deficiency of protein C or protein S, may
inheritance, and whether there is more than one bleeding disorder in be mistaken for bruises, but the age of the patient and the distribution
the family. The family history is often negative in the case of an of the lesions help to establish the diagnosis. Skin bleeding from
acquired problem, such as iatrogenic bleeding from anticoagulant minor lesions (e.g., skin cancers) can be unusually troublesome for
therapy or a technical problem complicating a surgical or dental patients with severe bleeding disorders.
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procedure. The family history is typically positive when the disorder
is autosomal dominant and has high penetrance. 3,7,9 The family
history is negative in individuals with novel mutations and in those Epistaxis
with recessive disorders unless there are affected siblings or many
affected relatives from consanguinity or founder effects. Individuals Epistaxis is a commonly reported bleeding symptom that does not
with mild disorders who have never had a hemostatic challenge may always reflect a bleeding disorder, even when the bleeding is frequent
be referred after another family member is identified to have a bleed- and/or requires medical interventions. 2–5,7 Although nosebleeds can
ing problem or if the person has bleeding after a significant hemostatic be caused by mucocutaneous bleeding disorders (e.g., platelet or von
1,3
challenge. Early identification of a bleeding disorder may alter the Willebrand factor problems), they can also result from severe defi-
natural history, particularly if treatment is given before hemostatic ciencies of common pathway coagulation factors (e.g., congenital
challenges. 7 deficiency of factor V, factor X, or prothrombin), fibrinolytic defects
Some patients have other clinical problems that suggest the pos- (PAI-1 or α 2 -antiplasmin deficiency, increased platelet urokinase
sibility of a syndromic disorder (e.g., albinism or a history of delayed plasminogen activator from Quebec platelet disorder) or HHT. 1,3,7,9,15,21
pigmentation, hearing loss, nephritis, absent radii) or an alternative Nosebleeds from bleeding disorders or other causes are often worse
diagnosis (e.g., hyperextensibility of the joints because of Ehlers- in childhood.
Danlos syndrome). An evaluation for symptoms and signs of joint When the volume of bleeding from the nose is large, the patient
hypermobility (affecting the spine, elbows, knees, and/or metacarpo- may experience passage of clots from the nose or may present with
phalangeal joints) can help assess for collagen disorders amongst melena. Although nosebleeds are not specific to bleeding disorders,
individuals referred for bleeding symptom assessment. 27 it is important to ask about them because severe nosebleeds can be
disabling for some individuals with bleeding disorders, such as von
Willebrand disease. 3,9
Bruising, Petechiae, and Other Skin Changes
Gum Bleeding and Bleeding With
Bruising (which reflects bleeding into the skin) is a commonly
reported bleeding symptom. 2–4,7,9,15 Bruising is reported more fre- Loss of Primary Teeth
2
quently by women than men. Some bruising symptoms are more
suggestive of a bleeding problem than others. For example, bruises Gum bleeding can be problematic with inherited or acquired bleed-
from bleeding disorders often occur after minimal or no recalled ing disorders that affect platelets or von Willebrand factor, although
trauma. 3,4,7,9,15 Bruises that are unusually large (e.g., as big or bigger it more frequently reflects gum disease. 1,3,9,21 Severe bleeding with the
than an orange) or lumpy or that migrate (i.e., track downward to loss of primary teeth is also suspicious of an underlying bleeding
the feet over time) are consistent with more extensive bleeding into disorder. 1,3,7,9
cutaneous or subcutaneous tissues and are more specific, but not
highly sensitive, for bleeding disorders. 4,7,9 When bruises are large or
multiple, patients may hide them (by wearing pants and long-sleeved Gastrointestinal Bleeding
shirts) to avoid being questioned. Severe bruising symptoms may lead
to lifestyle changes (e.g., avoidance of sports or other activities that Gastrointestinal bleeding can complicate a bleeding disorder, but it
7
increase the risk for bruising). When there is significant swelling with is rarely the presenting problem, and it requires investigation to