Page 536 - Clinical Hematology_ Theory _ Procedures ( PDFDrive )

520 PART 7 ■ Principles and Disorders of Hemostasis and Thrombosis

(FDPs or FSPs), inc u ing the ater egra ation ro ucts, acks the rece tor site or vWF, which is necessary or ate-

rag ents D an E, have a high a nity or the ate et e - ets to a here to vascu ar suben othe iu .

brane an ro uce a severe ate et unction e ect. Patients

with severe iron, o ate, or coba a in e ciency ay a so Clinical

have ate et unction e ects. C inica eatures inc u e easy bruising, e istaxis, hy er en-

orrhagia, an etechiae.

Hereditary Platelet Adhesion and Aggregation Carriers o BSS ty ica y have asy to atic thro bocy-

Disorders to enia that oes not require treat ent.

1. Here itary ate et ys unctions are cause by an inher- Laboratory Findings

ite ate et e ect that is either structura or bioche ica T e con ition is characterize by the resence o giant ate-

(Box 26.4). Exa es o a hesion isor ers inc u e BSS, ets (Fig. 26.11)

a co agen rece tor e ect, G anz ann’s thro basthenia, A b oo ro a atient with BSS ay rese b e that

an storage granu e abnor a ities. Secon ary aggrega- ro a atient with I P. P ate et aggregation is nor a with

tion isor ers inc u e here itary storage oo e ect an a agents exce t ristocetin. A iagnosis o BSS is ty ica y

here itary as irin- ike e ects. con r e by quantitative ana ysis o GPIb-IX co ex

A so inc u e a ong here itary isor ers are e ects o ex ression on the ate ets or genetic testing.
connective tissue, such as co agen, an ai ure o ate- Aggregation stu ies can he to i enti y the rare, o i-

ets to a here to the suben othe iu because o a ecrease nant Bo zano ty e o BSS, in which the GPIbIX-V co ex
or e ect in as a coagu ation actors. An exa e o a is ex resse but unctiona y i aire .

e ect o ate et ug or ation owing to ecrease ate-
et a hesion to the suben othe iu is von Wi ebran ’s Glanzm ann’s Throm basthenia and Essential

isease. Athrom bia
Etiology

Bernard-Soulier Syndrom e (BSS) Glanzmann’s thrombasthenia an essential athrombia are si i-

Etiology ar, rare, ri ary aggregation isor ers. G anz ann’s thro -

Bernar -Sou ier syn ro e, an autoso a recessive here i- basthenia is an autoso a recessive isor er.

tary b ee ing isor er, is a qua itative e ect o ate ets.
Pathophysiology

T is isor er invo ves an abnor a ity o the sur ace e -
Pathophysiology brane GP co ex IIb/IIIa

It is s eci ca y a ate et a hesion isor er in which

ate et e brane GPIb, GPV, an GPIX are issing. In Clinical Signs and Symptoms
this syn ro e, there is i thro bocyto enia, but the C inica eatures invo ve ate et ys unction, easy an s on-

re o inant abnor a ity is o the e brane GPIb. T ere taneous bruising, subcutaneous hematomas, an etechiae.
is re uce or absent ex ression o the g yco rotein (GP) Intra-articu ar b ee ing with he arthrosis ay occur in

Ib-IX-V rece tor co ex. T is abnor a ate et e brane so e atients but ten s to i inish with age.

BOX 26.4

Examples of Inherited Platelet Dysfunction

Sur ace membrane de ects

Bernar -Sou ier syn ro e

G anz ann’s thro basthenia

P ate et-ty e von Wi ebran ’s isease

De ects o granule storage

A ha-granu e e ciency

Gray ate et syn ro e

Dense granu es

Wiskott-A rich syn ro e

Her ansky-Pu ak syn ro e FIGURE 26.11 Peri hera b oo s ear, Bernar -Sou ier syn-

Ché iak-Higashi syn ro e ro e. T e ate ets are arger than nor a . (Fro Farhi DC, Chai

AR baby syn ro e CC, E e an AS, et a . Pathology o Bone Marrow and Blood Cells,

Phi a e hia, PA, Li incott-Wi i as & Wi kins, 2004.)