Disorders of Platelet Secretion Flashcards

1
Q

most common of the hereditary platelet function defects

A

Storage pool and release reaction defects

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
2
Q

Px with storage pool & release reaction defects present with:

A

mucocutaneous hemorrhage,
hematuria,
epistaxis,
easy and spontaneous bruising

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
3
Q

Dense Granule Deficiencies

A

Hermansky-Pudlak syndrome
Chédiak-Higashi syndrome
Wiskott-Aldrich syndrome Thrombocytopenia–absent radius (TAR) syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
4
Q

a-Granule Deficiencies

A

Gray platelet syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
5
Q

dense granules are the storage site for:

A

serotonin
nucleotides (ADP & ATP)
calcium
pyrophosphate

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
6
Q

Dense granule deficiencies can be subdivided into deficiency:

A

associated with albinism & nonalbinos

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
7
Q

platelets of _ there is evidence for the presence of dense granule membranes in normal to near-normal numbers, which suggests that the disorder arises from an in- ability to package the dense granule contents

A

nonalbinos

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
8
Q

plays a major role in platelet activation, recruitment, and aggregation and growth of the hemostatic plug

A

ADP

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
9
Q

In the platelet function tests, addition of _ to platelet-rich plasma fails to induce an aggregation response from platelets with dense granule deficiency

A

arachidonic acid

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
10
Q

characterized by tyrosinase- positive oculocutaneous albinism, defective lysosomal function in a variety of cell types, ceroid-like deposition in the cells of the reticuloendothelial system, and a profound platelet dense granule deficiency

A

Hermansky-Pudlak syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
11
Q

Several of the mutations responsible for Hermansky-Pudlak syndrome have been mapped to _. Mutations in _ genes individually can give rise to Hermansky-Pudlak syndrome.

A

chromosome 19;

at least seven

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
12
Q

most bleeding episodes in _ are not severe, lethal hemorrhage has been reported, and in one series hemorrhage accounted for 16% of deaths in affected patient

A

Hermansky-Pudlak syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
13
Q

HPS

For extensive surgery or prolonged bleeding both _ & _ are required.

_ can be used to treat skin wounds that fail to spontaneously clot.

A

red blood cell (RBC) and platelet transfusions;

Thrombin-soaked Gelfoam

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
14
Q

characterized by partial oculocutaneous albinism, frequent pyogenic bacterial infections, giant lysosomal granules in cells of hematologic and nonhematologic origin, platelet dense granule deficiency, and hemorrhage

A

Chédiak-Higashi syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
15
Q

accompanied by severe immunologic defects and progressive neurologic dysfunction in patients who survive to adulthood

A

Chédiak-Higashi syndrome

How well did you know this?
1
Not at all
2
3
4
5
Perfectly
16
Q

The gene for the Chédiak-Higashi syndrome protein is located on

A

chromosome 1

17
Q

disorder of generalized cellular dysfunction involving fusion of cytoplasmic granules;

marked by lymphocytic proliferation in the liver, spleen, and marrow with macro- phage accumulation in tissues.

A

Chédiak-Higashi syndrome

18
Q

This is a rare X-linked disease caused by mutations in the WAS gene on the short arm of the _ that encodes for a 502-amino acid protein – the Wiskott-Aldrich syndrome protein (WASp) – that is found exclusively in hematopoietic cells, including lymphocytes

A

X chromosome Xp11.23

19
Q

plays a crucial role in actin cytoskeleton remodeling

A

WASp

20
Q

classic form of WAS characterized by susceptibility to infections associated with immune dysfunction, with recurrent bacterial, viral, and fungal infections, microthrom- bocytopenia, and severe eczema

A

eczema- thrombocytopenia immunodeficiency syndrome

21
Q

Wiskott-Aldrich platelets are also structurally _. The number of dense granules is decreased, and the platelets are small (microthrombocytes)

A

abnormal

22
Q

The platelets show a decreased aggregation response to ADP, collagen, and epinephrine and lack a secondary wave of aggregation in response to these agonists

A

Wiskott-Aldrich syndrome (WAS)

23
Q

treatment for the thrombocytopenia!

A

splenectomy
platelet transfusion (hemorrhagic episodes)
bone marrow transplantation

24
Q

congenital absence of the radial bones (the most pro- nounced skeletal abnormality), numerous cardiac and other skel- etal abnormalities, and thrombocytopenia (90% of cases)

A

Thrombocytopenia with absent radii syndrome (TAR)

25
Q

are the storage site for proteins produced by the megakaryocyte (e.g., platelet-derived growth factor, thrombospondin, and platelet factor 4) or present in plasma and taken up by platelets

A

a-granules

26
Q

lifelong mild bleeding tendencies, moderate thrombocytopenia, fibrosis of the marrow, and large platelets whose gray appearance on a Wright-stained blood film

A

Grey Platelet Syndrome

27
Q

lifelong mild bleeding tendencies, moderate thrombocytopenia, fibrosis of the marrow, and large platelets whose gray appearance on a Wright-stained blood film:

More recently, a mutation in region 3p21.31 involving the gene _ has been identified. This gene is crucial for the devel- opment of !-granules.

A

Gray Platelet Syndrome

NBEAL2

28
Q

in gray platelet syndrome, the plasma levels of _ and _ are increased, because although the proteins normally contained in !-granules are produced, storage in those granules is not possible

A

platelet factor 4 and B- thromboglobulin

29
Q

Gray Platelet Syndrome Treatments:

A

platelet transfusions - severe bleeding
Cryoprecipitate - control bleeding
Desmopressin acetate - shorten the bleeding time

30
Q

rare disorder in which both a-granules and dense granules are deficient

A

a -dense storage pool deficiency.

31
Q

results from a deficiency of multimerin (a multi- meric protein that is stored complexed with factor V in a-granules)

A

Quebec platelet disorder