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Platelet-type bleeding disorder 17(BDPLT17)

MedGen UID:
396078
Concept ID:
C1861194
Disease or Syndrome
Synonyms: BDPLT17; Thrombasthenia-thrombocytopenia, hereditary
 
Gene (location): GFI1B (9q34.13)
 
Monarch Initiative: MONDO:0008553
OMIM®: 187900

Definition

Platelet-type bleeding disorder-17 is an autosomal dominant disorder characterized by increased bleeding tendency due to abnormal platelet function. It is a type of 'gray platelet syndrome' because the platelets appear abnormal on light microscopy. Electron microscopy shows decreased or absent alpha-granules within platelets, and bone marrow biopsy shows increased numbers of abnormal megakaryocytes, suggesting a defect in megakaryopoiesis and platelet production. The bleeding severity is variable (summary by Monteferrario et al., 2014). [from OMIM]

Clinical features

From HPO
Gastrointestinal hemorrhage
MedGen UID:
8971
Concept ID:
C0017181
Pathologic Function
Hemorrhage affecting the gastrointestinal tract.
Epistaxis
MedGen UID:
4996
Concept ID:
C0014591
Pathologic Function
Epistaxis, or nosebleed, refers to a hemorrhage localized in the nose.
Myelofibrosis
MedGen UID:
10146
Concept ID:
C0026987
Neoplastic Process
Replacement of bone marrow by fibrous tissue.
Thrombocytopenia
MedGen UID:
52737
Concept ID:
C0040034
Disease or Syndrome
A reduction in the number of circulating thrombocytes.
Prolonged bleeding time
MedGen UID:
56231
Concept ID:
C0151529
Finding
Prolongation of the time taken for a standardized skin cut of fixed depth and length to stop bleeding.
Increased RBC distribution width
MedGen UID:
1630967
Concept ID:
C0948014
Finding
Red blood cell distribution width (RDW) is a simple parameter of the standard full blood count and a measure of heterogeneity in the size of circulating erythrocytes. It is provided by automated hematology analyzers and it reflects the range of the red cell size. It is calculated by dividing the standard deviation of erythrocyte volume by the mean corpuscular volume (MCV) and multiplied by 100 to convert to a percentage.
Abnormal bleeding
MedGen UID:
264316
Concept ID:
C1458140
Pathologic Function
An abnormal susceptibility to bleeding, often referred to as a bleeding diathesis. A bleeding diathesis may be related to vascular, platelet and coagulation defects.
Macrothrombocytopenia
MedGen UID:
414334
Concept ID:
C2751260
Disease or Syndrome
Reduced prothrombin consumption
MedGen UID:
867367
Concept ID:
C4021732
Finding
The prothrombin consumption test measures the formation of intrinsic thromboplastin by determining the residual serum prothrombin after blood clotting is complete. If there is a defect in the process, less prothrombin will be converted to thrombin than normal (less prothrombin is consumed). This test may be abnormal with conditions including deficiency of factors VIII or IX, with circulating anticoagulants, thrombocytopenia.
Absence of alpha granules
MedGen UID:
868470
Concept ID:
C4022864
Finding
A lack of platelet alpha granules. This typically results in the gray appearance of platelets in giemsa stained blood smears.
Prolonged bleeding following procedure
MedGen UID:
868737
Concept ID:
C4023142
Finding
Prolonged or protracted bleeding following an invasive procedure or intervention.
Impaired collagen-induced platelet aggregation
MedGen UID:
870264
Concept ID:
C4024703
Finding
Abnormal response to collagen or collagen-mimetics as manifested by reduced or lacking aggregation of platelets upon addition collagen or collagen-mimetics.
Impaired epinephrine-induced platelet aggregation
MedGen UID:
870285
Concept ID:
C4024727
Finding
Abnormal response to epinephrine as manifested by reduced or lacking aggregation of platelets upon addition of epinephrine.
Ecchymosis
MedGen UID:
8524
Concept ID:
C0013491
Finding
A purpuric lesion that is larger than 1 cm in diameter.
Petechiae
MedGen UID:
10680
Concept ID:
C0031256
Disease or Syndrome
Petechiae are pinpoint-sized reddish/purple spots, resembling a rash, that appear just under the skin or a mucous membrane when capillaries have ruptured and some superficial bleeding into the skin has happened. This term refers to an abnormally increased susceptibility to developing petechiae.
Bruising susceptibility
MedGen UID:
140849
Concept ID:
C0423798
Finding
An ecchymosis (bruise) refers to the skin discoloration caused by the escape of blood into the tissues from ruptured blood vessels. This term refers to an abnormally increased susceptibility to bruising. The corresponding phenotypic abnormality is generally elicited on medical history as a report of frequent ecchymoses or bruising without adequate trauma.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPlatelet-type bleeding disorder 17

Professional guidelines

PubMed

Fidalgo T, Salvado R, Corrales I, Pinto SC, Borràs N, Oliveira A, Martinho P, Ferreira G, Almeida H, Oliveira C, Marques D, Gonçalves E, Diniz M, Antunes M, Tavares A, Caetano G, Kjöllerström P, Maia R, Sevivas TS, Vidal F, Ribeiro L
Thromb Haemost 2016 Jul 4;116(1):17-31. Epub 2016 Mar 17 doi: 10.1160/TH15-07-0604. PMID: 26988807

Recent clinical studies

Etiology

Fidalgo T, Salvado R, Corrales I, Pinto SC, Borràs N, Oliveira A, Martinho P, Ferreira G, Almeida H, Oliveira C, Marques D, Gonçalves E, Diniz M, Antunes M, Tavares A, Caetano G, Kjöllerström P, Maia R, Sevivas TS, Vidal F, Ribeiro L
Thromb Haemost 2016 Jul 4;116(1):17-31. Epub 2016 Mar 17 doi: 10.1160/TH15-07-0604. PMID: 26988807
Nurden P, Youlouz-Marfak I, Siberchicot F, Kostrzewa E, Andia I, Anitua E, Nurden AT
Haemophilia 2011 Jul;17(4):620-4. Epub 2011 Feb 16 doi: 10.1111/j.1365-2516.2010.02480.x. PMID: 21323803

Diagnosis

Brøns N, Zaninetti C, Ostrowski SR, Petersen J, Greinacher A, Rossing M, Leinøe E
Platelets 2021 Jul 4;32(5):701-704. Epub 2020 Jul 7 doi: 10.1080/09537104.2020.1786041. PMID: 32633597
Fidalgo T, Salvado R, Corrales I, Pinto SC, Borràs N, Oliveira A, Martinho P, Ferreira G, Almeida H, Oliveira C, Marques D, Gonçalves E, Diniz M, Antunes M, Tavares A, Caetano G, Kjöllerström P, Maia R, Sevivas TS, Vidal F, Ribeiro L
Thromb Haemost 2016 Jul 4;116(1):17-31. Epub 2016 Mar 17 doi: 10.1160/TH15-07-0604. PMID: 26988807
Hamilton A, Ozelo M, Leggo J, Notley C, Brown H, Frontroth JP, Angelillo-Scherrer A, Baghaei F, Enayat SM, Favaloro E, Lillicrap D, Othman M
Thromb Haemost 2011 Mar;105(3):501-8. Epub 2011 Feb 8 doi: 10.1160/TH10-08-0523. PMID: 21301777

Therapy

Takahashi H, Tatewaki W, Nagayama R, Hanano M, Tamura M, Yamaguchi T, Takizawa S, Wada K, Shibata A
Haemostasis 1987;17(6):353-60. doi: 10.1159/000215770. PMID: 3123334

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