VASCULAR BLEEDING DISORDERS

Bleeding may result from abnormalities in platelets, coagulation factors, or blood vessels.
Vascular bleeding disorders result from defects in blood vessels, typically causing petechiae,
purpura, and bruising but, except for hereditary hemorrhagic telangiectasia, seldom leading to
serious blood loss. Bleeding may result from deficiencies of vascular and perivascular collagen
in Ehlers-Danlos syndrome and in other rare hereditary connective tissue disorders (eg,
pseudoxanthoma elasticum, osteogenesis imperfecta, Marfan syndromesee Marfan Syndrome).
Hemorrhage may be a prominent feature of scurvy (see Vitamin C Deficiency) or of HenochSchnlein purpura, a hypersensitivity vasculitis common during childhood (see Immunoglobulin
AAssociated Vasculitis (IgAV)). In vascular bleeding disorders, tests of hemostasis are usually
normal. For most disorders, diagnosis is clinical; specific tests are available for some. The
example of vascular bleeding disorders include :
AUTOERYTHROCYTE SENSITIZATION
Autoerythrocyte sensitization typically occurs in white women who are experiencing emotional
stress or who have concomitant psychiatric illness. Episodes of ecchymosis are painful and can
occur spontaneously or after trauma or surgery. Bruising can occur on different sites of the body
from where the trauma occurs. Tests of the coagulation system are normal.
In women with autoerythrocyte sensitization, intradermal injection of 0.1 mL of autologous
RBCs or RBC stroma may result in pain, swelling, and induration at the injection site. This result
suggests that escape of RBCs into the tissues is involved in the pathogenesis of the lesion.
However, most patients also have associated severe psychiatric symptoms, and some patients
self-induce purpura, which may masquerade as the syndromes.
To help distinguish the disorder from factitious illness, some clinicians suggest doing intradermal
injection of autologous RBCs at one site and a separate control injection without RBCs at
another. Presence of ecchymosis at the test but not the control site 24 to 48 h after injection
suggests autoerythrocyte sensitization. Excoriation, which can complicate the tests
interpretation, is prevented by making both sites difficult for the patient to reach. However, this
test has not been validated and is usually not recommended.
Treatment is psychiatric therapy.
HEREDITARY HEMORRHAGIC TELANGIECTASIA
Hereditary hemorrhagic telangiectasia is a hereditary disorder of vascular malformation
transmitted as an autosomal dominant trait affecting men and women.

More than 80% of patients have mutations in the endoglin ( ENG ) gene, which encodes a
receptor for transforming growth factor beta-1 (TGF-1) and TGF-3 or in the MADH4 gene,
which encodes SMAD4, a protein active in the TGF- signalling pathway.
Symptoms and Signs
The most characteristic lesions are small red-to-violet telangiectatic lesions on the face, lips, oral
and nasal mucosa, and tips of the fingers and toes. Similar lesions may be present throughout the
mucosa of the GI tract, resulting in recurrent GI bleeding. Patients may experience recurrent,
profuse nosebleeds. Some patients have pulmonary arteriovenous fistulas. These fistulas may
cause significant right-to-left shunts, which can result in dyspnea, fatigue, cyanosis, or
polycythemia. However, the first sign of their presence may be a brain abscess, transient
ischemic attack, or stroke as a result of infected or noninfected emboli. Cerebral or spinal
arteriovenous malformations occur in some families and may cause subarachnoid hemorrhage,
seizures, or paraplegia. Hepatic arteriovenous malformations may lead to liver failure and high
output heart failure.

Diagnosis

Clinical evaluation

Sometimes endoscopy or angiography

Sometimes genetic testing

Diagnosis is based on the finding of characteristic arteriovenous malformations on the face,

mouth, nose, and digits. Endoscopy or angiography is sometimes needed. Laboratory findings
are usually normal except for iron deficiency anemia in many patients.
Testing for the ENG and SMAD4 mutations may be helpful in some patients with atypical
features or for screening asymptomatic family members.
Screening
If a family history of pulmonary, hepatic, or cerebral arteriovenous malformations exists,
screening at puberty and at the end of adolescence with pulmonary CT, hepatic CT, and cerebral
MRI is recommended.
Treatment

Sometimes laser ablation, surgical resection, or embolization of symptomatic

arteriovenous malformations

Supplemental iron therapy

Possibly blood transfusions

Sometimes antifibrinolytic drugs (eg, aminocaproic acid, tranexamic acid)

Treatment for most patients is supportive, but accessible telangiectasias (eg, in the nose or GI
tract via endoscopy) may be treated with laser ablation. Arteriovenous fistulas may be treated by
surgical resection or embolization. Repeated blood transfusions may be needed; therefore,
immunization with hepatitis B vaccine is important. Many patients require continuous iron
therapy to replace iron lost in repeated mucosal bleeding; many patients require parenteral iron
and sometimes erythropoietin. Treatment with drugs that inhibit fibrinolysis, such as
aminocaproic acid or tranexamic acid may be beneficial.
PURPURA SIMPLEX
Purpura simplex is increased bruising that results from vascular fragility.
Purpura simplex is extremely common. The cause and mechanism are unknown. Purpura
simplex may represent a heterogeneous group of disorders or merely a variation of normal.
The disorder usually affects women. Bruises develop on the thighs, buttocks, and upper arms in
people without known trauma. The history usually reveals no other abnormal bleeding, but easy
bruising may be present in family members. Serious bleeding does not occur. The platelet count
and tests of platelet function, blood coagulation, and fibrinolysis are normal.

No drug prevents the bruising; patients are often advised to avoid aspirin and aspirin -containing
drugs, but there is no evidence that bruising is related to or worsened by their use. Patients
should be reassured that the condition is not serious. All patients should be evaluated for the
possibility of physical abuse.

SENILE PURPURA
Senile purpura causes ecchymoses and results from increased vessel fragility due to connective
tissue damage to the dermis caused by chronic sun exposure, aging, and drugs.
Senile purpura typically affects elderly patients as their dermal tissues atrophy and blood vessels
become more fragile. Patients develop persistent dark purple ecchymoses, which are
characteristically confined to the extensor surfaces of the hands and forearms. New lesions
appear without recognized trauma and then resolve over several days, leaving a brownish
discoloration caused by deposits of hemosiderin. This discoloration may clear over weeks to
months or may be permanent. The skin and subcutaneous tissue of the involved area often appear
thinned and atrophic. Drugs (eg, corticosteroids, warfarin, aspirin, clopidogrel) may exacerbate
the ecchymoses. No treatment hastens lesion resolution or is needed. Although cosmetically
displeasing, the disorder has no health consequences and does not herald severe bleeding
elsewhere.
Referensi : ( David J. Kuter, MD, DPhil. Professional hematology and oncology.
[http://www.merckmanuals.com/bleeding-due-to-abnormal-blood-vessels/overview-ofvascular-bleeding-disorders. 05-08-15 ])