was originally described in 1948
Introduction to Bernard-Soulier
Syndrome
IN 1948, BERNARD AND
SOULIER described a young male
patient with a severe bleeding
disorder that was characterized by
a prolonged bleeding time,
thrombocytopenia, and extremely
large platelets. They termed the
disorder “la dystrophie
thrombocytaire-hémorragipare
congénitale.” Since then, an
identical or similar disorder has
been described in a large number
of individuals, virtually always
transmitted in an autosomal
recessive manner and often
occurring in persons whose parents
are close relatives.
What is Bernard-Soulier
syndrome?
The Bernard-Soulier Syndrome (B-
SS) is a rare inherited bleeding
disorder caused by abnormal
platelets and subsequent abnormal
clotting. It is one of the giant
platelet syndromes. This syndrome
What is the cause of Bernard-
by two physicians who were
treating a patient with a bleeding
problem. They discovered that this
patient had a prolonged bleeding
time, fewer platelets, and larger
platelets than the normal
individual. Since then, the platelet
abnormality has been described
and determined to be due to the
platelets lacking the ability to stick
adequately to injured blood-vessel
walls. This is a crucial aspect of
the process of forming a blood clot,
and as a result of this problem,
there is abnormal bleeding.
What are the symptoms and
signs of Bernard-Soulier
syndrome?
Bernard-Soulier syndrome usually
presents in the newborn period,
infancy, or early childhood with
bruises, nosebleeds (epistaxis),
and/or gum (gingival) bleeding.
Later problems can occur with
anything that can induce bleeding
such as menstruation, trauma,
surgery, or stomach ulcers.
mapped to the short (p) arm of
Soulier syndrome?
Bernard-Soulier syndrome is a rare
inherited disease and is transmitted
in an autosomal recessive pattern.
This means that both parents must
carry a gene for the Bernard-
Soulier syndrome and transmit that
gene to the child for the child to
have the disease. The prevalence is
believed to be less than one in 1
million individuals. The molecular
basis is now known and is due to a
defect in the platelet glycoprotein
complex 1b-IX-V. This is referred
to as an adhesion complex and
forms a receptor that enables
platelets to stick together to form a
clot. Normal platelets circulate in
the blood and are the primary cells
responsible for initiating clotting.
Without this receptor, platelets
cannot stick together and clotting
does not occur normally. The
parents of a child with B-SS will
have a decrease in the glycoprotein
but no impairment of platelet
function and no abnormal bleeding.
The Bernard-Soulier gene has been
chromosome 17
How is Bernard-Soulier
syndrome diagnosed?
Patients are often diagnosed with
B-SS after seeking medical
attention following prolonged or
reoccurring bleeding episodes.
Some infants are diagnosed after
excessive bleeding following
circumcision. Other children and
adults may be diagnosed after
bleeding excessively following
trauma or tooth extraction. Very
frequently there is a history of
another family member with
similar symptoms, and the
physician evaluating the patient
will often document a detailed
family history to assist in the
diagnosis. B-SS ultimately is a
laboratory diagnosis and usually
requires a specialized laboratory to
confirm the suspicion of the
disease and involves platelet
aggregation studies (testing for the
"stickiness" of platelets) and flow
cytometry. It is important to
distinguish this syndrome from