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Reliable, easy-to-read patient information on common medical conditions โ€” written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.

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Myelodysplastic syndromes

Introduction

For patient information, click here

Synonyms and keywords: Preleukemia syndrome; dysmyelopoietic syndrome; myelodysplasia; refractory anaemia; refractory anemia

Overview

Overview

Overview

The myelodysplastic syndromes was first described in 1900 by Leube. Myelodysplastic syndromes may be classified into several subtypes based on the French-American-British (FAB) classification and the World Health Organization (WHO) classification methods. Cytogenetic abnormalities involved in the pathogenesis of myelodysplastic syndrome include isolated deletion of 5q, monosomy 7, and monosomy 8. Myelodysplastic syndrome is associated with Fanconi syndrome, Diamond-Blackfan anemia, Shwachman-Diamond syndrome. There are no characteristic findings of myelodysplastic syndrome on gross pathology. On microscopic histopathological analysis, dyserythropoiesis, dysgranulopoiesis, and dysmegakaryocytopoiesis are findings of myelodysplastic syndrome. There are no known direct causes for primary myelodysplastic syndrome. Common risk factors for secondary myelodysplastic syndrome can be found here. Myelodysplastic syndrome must be differentiated from other diseases that cause anemia, neutropenia, and thrombocytopenia, such as: aplastic anemia, fanconi anemia, pure red cell aplasia, Shwachman-Diamond syndrome, paroxysmal nocturnal hemoglobinuria, parovirus B19 infection, and vitamin B12 defeciency. The incidence of myelodysplastic syndrome is approximately 4.4 to 4.6 cases per 100,000 individuals in the United States. Myelodysplastic syndrome commonly affects older patients. Males are more commonly affected with myelodysplastic syndrome than females. Myelodysplastic syndrome usually affects individuals of the Caucasian race. Common risk factors in the development of myelodysplastic syndrome are past treatment with chemotherapy, radiation therapy, past exposure to tobacco smoke, ionizing radiation, organic chemicals, and heavy metals. If left untreated, a high percentage of patients with myelodysplastic syndrome may progress to develop acute myeloid leukemia or die due to bone marrow failure. Common complications of myelodysplasia include progression to acute myeloid leukemia, bone marrow failure, infection, hemorrhage, and iron overload. Prognosis is generally poor, and the 5-year survival rate of patients with high IPSS score myelodysplastic syndrome is approximately 55%. Symptoms of myelodysplastic syndrome include bleeding, easy bruising, shortness of breath, weakness, and fatigue. Common physical examination findings of myelodysplastic syndrome include pallor, hepatomegaly, splenomegaly, lymphadenopathy, fever, and petechiae. Laboratory findings consistent with the diagnosis of myelodysplastic syndrome include abnormal complete blood count, peripheral blood smear, cytogenetic analysis, immunohistochemistry, and bone marrow biopsy. Chemotherapy is recommended among all patients who develop myelodysplastic syndrome. Surgery is not the first-line treatment option for patients with myelodysplastic syndrome. Stem cell transplantation is usually reserved for patients who are either young or those with high-risk MDS.

Historical Perspective

Myelodysplastic syndrome was first described in 1900 by Leube.

Classification

Myelodysplastic syndrome may be classified into several subtypes based on the French-American-British (FAB) classification and the World Health Organization (WHO) classification methods.

Pathophysiology

Cytogenetic abnormalities involved in the pathogenesis of myelodysplastic syndrome include isolated deletion of 5q, monosomy 7, and monosomy 8. Myelodysplastic syndrome is associated with Fanconi syndrome, Diamond-Blackfan anemia, Shwachman-Diamond syndrome. There are no characteristic findings of myelodysplastic syndrome on gross pathology. On microscopic histopathological analysis, dyserythropoiesis, dysgranulopoiesis, and dysmegakaryocytopoiesis are findings of myelodysplastic syndrome.

Causes

There are no known direct causes for primary myelodysplastic syndrome. Common risk factors for secondary myelodysplastic syndrome can be found here.

Differentiating Myelodysplastic syndrome from other Diseases

Myelodysplastic syndrome must be differentiated from other diseases that cause anemia, neutropenia, and thrombocytopenia, such as: aplastic anemia, fanconi anemia, pure red cell aplasia, Shwachman-Diamond syndrome, paroxysmal nocturnal hemoglobinuria, parovirus B19 infection, and vitamin B12 defeciency.

Epidemiology and Demographics

The incidence of myelodysplastic syndrome is approximately 4.4 to 4.6 cases per 100,000 individuals in the United States. Myelodysplastic syndrome commonly affects older patients. Males are more commonly affected with myelodysplastic syndrome than females. Myelodysplastic syndrome usually affects individuals of the Caucasian race.

Risk Factors

Common risk factors in the development of myelodysplastic syndrome are past treatment with chemotherapy, radiation therapy, past exposure to tobacco smoke, ionizing radiation, organic chemicals, and heavy metals.

Screening

According to the United States Preventive Services Task Force, there is insufficient evidence to recommend routine screening for myelodysplastic syndrome.

Natural History, Complications and Prognosis

If left untreated, a high percentage of patients with myelodysplastic syndrome may progress to develop acute myeloid leukemia or die due to bone marrow failure. Common complications of myelodysplasia include progression to acute myeloid leukemia, bone marrow failure, infection, hemorrhage, and iron overload. Prognosis is generally poor, and the 5-year survival rate of patients with high IPSS score myelodysplastic syndrome is approximately 55%.

Diagnosis

History and symptoms

Symptoms of myelodysplastic syndrome include bleeding, easy bruising, shortness of breath, weakness, and fatigue.

Physical Examination

Common physical examination findings of myelodysplastic syndrome include pallor, hepatomegaly, splenomegaly, lymphadenopathy, fever, and petechiae.

Laboratory Findings

Laboratory findings consistent with the diagnosis of myelodysplastic syndrome include abnormal complete blood count, peripheral blood smear, cytogenetic analysis, immunohistochemistry, and bone marrow biopsy.

CT

CT scan may be helpful in the diagnosis of myelodysplastic syndrome. Findings on CT scan of the spine suggestive of myelodysplastic syndrome include osteosclerosis and myelosclerosis.

MRI

Bone marrow MRI is helpful in the diagnosis of myelodysplastic syndrome. On MRI, myelodysplastic syndrome is characterized by low signal on T1-weighted imaging and high signal on T2-weighted imaging.

Other Imaging Findings

There are no other imaging findings associated with myelodysplastic syndrome.

Other Diagnostic Studies

Other diagnostic studies for myelodysplastic syndrome include bone marrow biopsy.

Treatment

Medical therapy

Chemotherapy is recommended among all patients who develop myelodysplastic syndrome.

Surgery

Surgery is not the first-line treatment option for patients with myelodysplastic syndrome. Stem cell transplantation is usually reserved for patients who are either young or those with high-risk MDS.

Primary Prevention

Effective measures for the primary prevention of myelodysplastic syndrome include avoiding exposure to tobacco smoke, ionizing radiation, herbicides, and pesticides.

Secondary Prevention

There are no secondary preventive measures available for myelodysplastic syndrome.

References


Template:WikiDoc Sources

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Nawal Muazam M.D.[2]Amandeep Singh M.D.[3]

Historical Perspective

Historical Perspective

Overview

Myelodysplastic syndrome was first described in 1900 by Leube.[1]

Historical Perspective

Myelodysplastic syndrome was first described in 1900 by Leube.[1]

References

  1. โ†‘ 1.0 1.1 Nimer, S. D. (2008). “Myelodysplastic syndromes”. Blood. 111 (10): 4841โ€“4851. doi:10.1182/blood-2007-08-078139. ISSNย 0006-4971.


Template:WikiDoc Sources

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1];Associate Editor(s)-in-Chief: Nawal Muazam M.D.[2]

Classification

Classification

Overview

The myelodysplastic syndrome may be classified into several subtypes based on the French-American-British (FAB) classification and theWorld Health Organization (WHO) classification methods.

Classification

French-American-British (FAB) Classification

  • Myelodysplastic syndrome may be classified according to the French-American-British classification into five groups: Refractory anemia, refractory anemia with ring sideroblasts, refractory anemia with excess blasts, refractory anemia with excess blasts in transformation, and chronic myelomonocytic leukemia.
  • The table below lists FAB classification for myelodysplastic syndrome:[1]
Name Description
Refractory anemia
  • Less than 5% primitive blood cells (myeloblasts) in the bone marrow and pathological abnormalities primarily seen in red blood cell precursors.
Refractory anemia with ring sideroblasts (RARS)
  • Less than 5% myeloblasts in the bone marrow, but distinguished by the presence of ringed sideroblasts which may compose greater than 15% of red blood cell precursor in the marrow.
Refractory anemia with excess blasts (RAEB)
  • 5-20% myeloblasts in the marrow
Refractory anemia with excess blasts in transformation (RAEB-T)
  • 21-30% myeloblasts in the marrow (>30% blasts is defined as acute myeloid leukemia)
Chronic myelomonocytic leukemia (CMML)
  • Less than 20% myeloblasts in the bone marrow and greater than 1*109/L monocytes in peripheral blood

WHO Classification

  • The table below lists World Health Organization classification for myelodysplastic syndrome:[1][2][3]
2008 2016
Refractory cytopenia with unilineage dysplasia (RCUD)
  • โ€‰โ€‰โ€‰Refractory anemia (RA)
  • โ€‰โ€‰โ€‰Refractory neutropenia (RN)
  • โ€‰โ€‰โ€‰Refractory thrombocytopenia (RT)
 MDS with single lineage dysplasia (MDS-SLD)
Refractory anemia with ring sideroblasts (RARS) MDS with ring sideroblasts (MDS-RS)
  • MDS-RS-SLD
  • MDS-RS-MLD
Refractory cytopenias with multilineage dysplasia MDS with multilineage dysplasia (MDS-MLD)
Refractory anemia with excess blasts (RAEB)
  • RAEB-1
  • RAEB-2
 MDS with excess blasts (MDS-EB)
  • MDS-EB-1
  • MDS-EB-2
MDS with isolated del(5q) MDS with isolated del(5q)
MDS, unclassifiable (MDS-U) MDS, unclassifiable (MDS-U)
Refractory cytopenia of childhood (provisional) Refractory cytopenia of childhood (provisional)

References

  1. โ†‘ 1.0 1.1 Pathologic systems of myelodysplastic syndrome. National Cancer Institute (2015). http://www.cancer.gov/types/myeloproliferative/hp/myelodysplastic-treatment-pdq/#link/_204_toc. Accessed on December 7, 2015
  2. โ†‘ Hong M, He G (September 2017). “The 2016 Revision to the World Health Organization Classification of Myelodysplastic Syndromes”. J Transl Int Med. 5 (3): 139โ€“143. doi:10.1515/jtim-2017-0002. PMCย 5655460. PMIDย 29085786.
  3. โ†‘ Arber, D. A.; Orazi, A.; Hasserjian, R.; Thiele, J.; Borowitz, M. J.; Le Beau, M. M.; Bloomfield, C. D.; Cazzola, M.; Vardiman, J. W. (2016). “The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia”. Blood. 127 (20): 2391โ€“2405. doi:10.1182/blood-2016-03-643544. ISSNย 0006-4971.


Template:WikiDoc Sources

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1];Associate Editor(s)-in-Chief: Nawal Muazam M.D.[2]

Pathophysiology

Pathophysiology

Overview

Myelodysplastic syndrome comprises a heterogeneous group of clonal bone marrow disorders.[1] Cytogenetic abnormalities involved in the pathogenesis of myelodysplastic syndrome include isolated deletion of 5q, monosomy 7, and monosomy 8.[1] Myelodysplastic syndrome is associated with Fanconi syndrome, Diamond-Blackfan anemia, and Shwachman-Diamond syndrome.[2] There are no characteristic findings of myelodysplastic syndrome on gross pathology. On microscopic histopathological analysis, dyserythropoiesis, dysgranulopoiesis, and dysmegakaryocytopoiesis are findings of myelodysplastic syndrome.[1]

Pathogenesis

Myelodysplastic syndrome comprises a heterogeneous group of clonal bone marrow disorders characterized by:[3]

Genetics

Cytogenetic abnormalities involved in the pathogenesis of myelodysplastic syndrome include:[1]

  • Isolated deletion of 5q
  • Isolated deletion of 17p
  • Monosomy 7
  • Monosomy 8

Associated Conditions

Myelodysplastic syndrome is associated with:[2]

Gross Pathology

There are no characteristic findings of myelodysplastic syndrome on gross pathology.

Microscopic Pathology

On microscopic histopathological analysis, characteristic findings of myelodysplastic syndrome include:[1]

  • Dyserythropoiesis (abnormal red blood cell formation)
  • Dysgranulopoiesis (abnormal granulocyte formation)
  • Dysmegakaryocytopoiesis (abnormal megakaryocyte formation)

Dyserythropoiesis

Nuclear Features
  • Nuclear budding
  • Intranuclear bridging (nuclei fail to separate post-division)
  • Multinucleation
  • Megablastoid changes (may be difficult to observe)
  • Karyorrhexis (nuclear fragmentation)
Cytoplasmic Features

Dysgranulopoiesis

Nuclear Features
  • Nuclear hypolobation (pseudo Pelger-Huรซt)
  • Nuclear hypersegmentation
Cytoplasmic Features
  • Cytoplasmic hypogranulation
  • Pseudo-Chediak-Higashi granules
  • Small cytoplasmic size

Dysmegakaryocytopoiesis

Nuclear Features
  • Micromegakaryoctes with hypolobated nuclei
  • Non-lobated nuclei of any size
  • Multiple widely separated nuclear lobes

Immunohistochemistry

On immunohistochemistry, characteristic findings of myelodysplastic syndrome include:

  • CD34 positive- (myeloid) progenitor/precursor cells
  • CD117 positive- (myeloid) progenitor/precursor cells, mast cells
  • Tryptase positive- mast cells, immature basophils
  • CD61 positive- megakaryocytes
  • CD42b positive- megakaryocytes
  • CD20 positive- B cells
  • CD3 positive- T cells
  • Glycophorin A positive- erythroid cells
  • Glycophorin C positive- erythroid cells

References

  1. โ†‘ 1.0 1.1 1.2 1.3 1.4 Cytogenetics of myelodysplastic syndromes. Librepathology (2015). http://librepathology.org/wiki/index.php/Myelodysplastic_syndromes. Accessed on December 8, 2015
  2. โ†‘ 2.0 2.1 Associations of myelodysplastic syndromes. Librepathology (2015). http://librepathology.org/wiki/index.php/Myelodysplastic_syndromes. Accessed on December 8, 2015
  3. โ†‘ Corrรชa de Souza, Daiane; de Souza Fernandez, Cecรญlia; Camargo, Adriana; Apa, Alexandre Gustavo; Sobral da Costa, Elaine; Bouzas, Luis Fernando; Abdelhay, Eliana; de Souza Fernandez, Teresa (2014). “Cytogenetic as an Important Tool for Diagnosis and Prognosis for Patients with Hypocellular Primary Myelodysplastic Syndrome”. BioMed Research International. 2014: 1โ€“10. doi:10.1155/2014/542395. ISSNย 2314-6133.


Template:WikiDoc Sources

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Nawal Muazam M.D.[2]

Causes

Causes

Overview

There are no known direct causes for primary myelodysplastic syndrome. Common risk factors for secondary myelodysplastic syndrome can be found here.[1][2]

Causes

Primary Myelodysplastic syndrome

There are no known direct causes for primary myelodysplastic syndrome. Approximately 90% of MDS cases occur de novo with no identifiable cause.[1][2]

Secondary Myelodysplastic syndrome

Common risk factors for secondary myelodysplastic syndrome can be found here.[1][2]

References

  1. โ†‘ 1.0 1.1 1.2 Risk factors of myelodysplastic syndrome. National Cancer Institute (2015). http://www.cancer.ca/en/cancer-information/cancer-type/leukemia/leukemia/myelodysplastic-syndromes/?region=on. Accessed on December 16, 2015
  2. โ†‘ 2.0 2.1 2.2 Risk factors of myelodysplastic syndrome. National Cancer Institute (2015). http://www.cancer.gov/types/liver/hp/child-liver-treatment-pdq#link/_570_toc. Accessed on December 7, 2015


Template:WikiDoc Sources

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1];Associate Editor(s)-in-Chief: Nawal Muazam M.D.[2]

Differentiating Myelodysplastic syndrome from other Diseases

Differentiating Myelodysplastic syndrome from other Diseases

Overview

Myelodysplastic syndrome must be differentiated from other diseases that cause anemia, neutropenia, and thrombocytopenia, such as: aplastic anemia, fanconi anemia, pure red cell aplasia, Shwachman-Diamond syndrome, paroxysmal nocturnal hemoglobinuria, parovirus B19 infection, and vitamin B12 defeciency

Differentiating Myelodysplastic Syndrome from other Diseases

ABBREVIATIONS

EPO: Erythropoietin, FISH: Fluorescence in situ hybridization, Hb: Hemoglobin, LAD: Leukocyte alkaline dehydrgenase, LAP: Leukocyte alkaline phosphatase, LDH: Lactate dehydrogenase, LFTs: Liver function tests, NL: Normal, PCR: Polymerase chain reaction, Plt: Platelet, PUD: Peptic ulcer disease, RFTs: Renal function tests, WBCs: White blood cells.

Disease Clinical manifestations Diagnosis Other features
Symptoms Signs CBC & Peripheral smear Bone marrow biopsy Other investigations
WBCs Hb Plt
WBC Blasts Left
shift 		Baso-
phils 		Eosino-
phils 		Mono-
cytes
Myelodysplastic syndromes
(MDS)[1][2] 		โ†“ Variable – โ†“ โ†“ โ†“ โ†“ โ†“
  • Leukemia transformation
  • Acquired pseudo-Pelger-Huรซt anomaly
Chronic myeloid leukemia
(CML)[3][4] 		โ†‘ <2% + โ†‘ โ†‘ โ†‘ โ†“ NL
Polycythemia vera
(PV)[5][6][7][8]
  • Constitutional
 NL or โ†‘ None – โ†‘ or โ†“ NL or โ†‘ NL โ†‘โ†‘ NL
  • Hypercellularity for age with tri-lineage growth
Primary myelofibrosis (PMF)[9][10][11][12] โ†“ Erythroblasts – Absent NL NL โ†“ โ†“
  • Variable with fibrosis or hypercellularity
Disease Symptoms Sign WBC Blasts Left
shift 		Baso-
phils 		Eosino-
phils 		Mono-
cytes 		Hb Plt Bone marrow biopsy Other investigations Other features
Essential thrombocythemia (ET)[13][14][15]

NL or โ†‘

None

–

โ†“ or absent

NL

NL

โ†“

โ†‘โ†‘

  • Normal/Hypercellular
Myelodysplastic
/myeloproliferative
neoplasms (MDS/MPN) 		Chronic myelomonocytic leukemia (CMML)[16]
[17][18]
 โ†‘ < 20% NL โ†‘ โ†‘โ†‘ โ†“ โ†“
  • Overlapping of both, MDS and MPN
  • Absolute monocytosis > 1 ร— 109/L (defining feature)
  • MD-CMML:WBC โ‰ค 13 ร— 109/L (FAB)
  • โ€ƒMP-CMML:WBC > 13 ร— 109/L (FAB)
Atypical chronic myeloid leukemia (aCML), BCR-ABL1-[19][20] โ†‘ <20% + <2% of WBCs N/A N/A โ†“ โ†“
Juvenile myelomonocytic leukemia (JMML)[21][22] โ†‘ โ†‘ N/A N/A N/A โ†‘ โ†“ โ†“
MDS/MPN with ring sideroblasts and thrombocytosis (MDS/MPN-RS-T)[23][24][25]
  • Variable
 NL or โ†‘ NL – NL N/A N/A โ†“ โ†‘
Disease Symptoms Sign WBC Blasts Left
shift 		Baso-
phils 		Eosino-
phils 		Mono-
cytes 		Hb Plt Bone marrow biopsy Other investigations Other features
Chronic neutrophilic leukemia (CNL)[26][27][28] โ†‘ Minimal + NL NL NL โ†“ โ†“
Chronic eosinophilic leukemia,
not otherwise specified
(NOS)[29][30][31][32] 		โ†‘ Present + โ†‘ โ†‘โ†‘ โ†‘ โ†“ โ†“
MPN,
unclassifiable 		โ†‘ Variable ยฑ โ†‘ or โ†“ โ†‘ or โ†“ โ†‘ or โ†“ โ†“ โ†‘
Mastocytosis[33][34][35][36]
  • Constitutional
 โ†‘ None – NL โ†‘ NL โ†“ โ†“ or โ†‘
Myeloid/lymphoid neoplasms
with eosinophilia and rearrangement
of PDGFRA, PDGFRB, or FGFR1,
or with PCM1–JAK2[37][38][39][40] 		โ†‘ NL – NL โ†‘ โ†‘ NL โ†“
  • FISH shows t(8;13) and t(8;22)
Disease Symptoms Sign WBC Blasts Left
shift 		Baso-
phils 		Eosino-
phils 		Mono-
cytes 		Hb Plt Bone marrow biopsy Other investigations Other features
B-lymphoblastic leukemia/lymphoma[41][42] NL or โ†‘ >25% N/A โ†‘ or โ†“ โ†‘ or โ†“ โ†‘ or โ†“ โ†“ โ†“
Acute myeloid leukemia (AML)
and related neoplasms[43][44] 		NL or โ†‘ โ†‘ N/A โ†‘ or โ†“ โ†‘ or โ†“ โ†‘ or โ†“ โ†“ โ†“

with dysplasia

Blastic plasmacytoid
dendritic cell neoplasm[45][46][47][48] 		NL โ†‘ NL NL NL โ†“ โ†“
Disease Symptoms Sign WBC Blasts Left
shift 		Baso-
phils 		Eosino-
phils 		Mono-
cytes 		Hb Plt Bone marrow biopsy Other investigations Other features
T-lymphoblastic leukemia/
lymphoma
T-lymphoblastic leukemia/
lymphoma[49][50][51] 		โ†‘ >25% blasts (Leukemia)

<25% blasts (Lymphoma)

ยฑ โ†‘ or โ†“ โ†‘ or โ†“ โ†‘ or โ†“ โ†“ โ†“
  • Hypercelluarity with increased T cells precursors
Provisional entity: Natural killer (NK) cell lymphoblastic leukemia/lymph[52] โ†‘ โ†‘ ยฑ โ†‘ or โ†“ โ†‘ or โ†“ โ†‘ or โ†“ โ†“ โ†“
  • N/A
Provisional entity: Early T-cell precursor lymphoblastic leukemia[53][54] โ†‘ โ†‘ ยฑ โ†‘ or โ†“ โ†‘ or โ†“ โ†‘ or โ†“ โ†“ โ†“
  • Hypercelluarity with increased T cells precursors

Differentiating myelodysplastic syndrome from other causes of macrocytic anemia

Disease Genetics Clinical manifestation Lab findings
History Symptoms Signs Hemolysis Intrinsic/Extrinsic Hb concentration MCV RDW Reticulocytosis Haptoglobin levels Hepcidin Iron studies Specific finding on blood smear
Serum iron Serum Tfr level Transferrin or TIBC Ferritin Transferrin saturation
Folate deficiency[55]
  • Impaired DNA synthesis
 โˆ’ โˆ’ Anisochromic Macrocytic โ†‘ โ†“ Nl Nl โ†‘ โ†‘ โ†“ โ†‘ โ†‘
Vitamin B12 deficiency[56] โˆ’ โˆ’ Anisochromic Macrocytic โ†‘ โ†“ Nl Nl โ†‘ โ†‘ โ†“ โ†‘ โ†‘
Orotic aciduria[57]
  • Neurological manifestation
 โˆ’ โˆ’ Anisochromic Macrocytic โ†‘ โ†“ Nl Nl โ†‘ โ†‘ โ†“ โ†‘ โ†‘ NA
Fanconi anemia[58]
  • Significant for bilateral short thumbs
 โˆ’ โˆ’ Anisochromic Macrocytic โ†‘ โ†“ Nl Nl โ†‘ โ†‘ โ†“ โ†‘ โ†‘
Disease Genetics History Symptoms Signs Hemolysis Intrinsic/Extrinsic Hb concentration MCV RDW Reticulocytosis Haptoglobin levels Hepcidin Serum iron Serum Tfr level IBC Ferritin Transferrin saturation Specific finding on blood smear
Diamond-Blackfan anemia[59] Mutations in:
  • RPL5
  • RPL11
  • RPL35A
  • RPS7
  • RPS10
  • RPS17
  • RPS19
  • RPS24
  • RPS26
 โˆ’ โˆ’ Anisochromic Macrocytic Nl โ†“ Nl Nl โ†‘ โ†‘ โ†“ โ†‘ โ†‘ NA
Liver disease[60] โˆ’
  • Hepatitis
  • Binge drinking
  • Gall bladder disease
 โˆ’ โˆ’ Anisochromic Macrocytic โ†‘ โ†‘ Nl Nl โ†‘ โ†‘ โ†“ โ†‘ โ†‘
Alcoholism[61] โˆ’ โˆ’ โˆ’ Anisochromic Macrocytic โ†‘ โ†‘ Nl Nl โ†‘ โ†‘ โ†“ โ†‘ โ†‘
Disease Genetics History Symptoms Signs Hemolysis Intrinsic/Extrinsic Hb concentration MCV RDW Reticulocytosis Haptoglobin levels Hepcidin Serum iron Serum Tfr level IBC Ferritin Transferrin saturation Specific finding on blood smear

Differentiating myelodysplastic syndrome from other causes of thrombocytopenia

Condition Etiology Mechanism Inherited Acquried Clinical manifestations Paraโˆ’clinical findings Gold standard Associated findings
Demography History Symptoms Signs
Lab Findings
Fever Rash Bleeding BP Splenomegaly Jaundice Other CBC PBS Bone marrow exam Other
Decreased platelet production Platelet destruction in blood Platelet destruction in spleen Plt HB WBC
Bone marrow disorders Myelodysplastic syndromes[62]
  • Unknown
  • Mutation
 + โˆ’ โˆ’ ยฑ + Elderly Exposure to + Petechiae, purpura, diffuse erythematous rash + Nl + + โ†“ โ†“ โ†“ Nl Bone marrow examination + clinical manifestation
Aplastic anemia[63] + โˆ’ โˆ’ ยฑ ยฑ Biphasic (the young and the elderly) โˆ’ โˆ’ + Nl โˆ’ โˆ’ โ†“ โ†“ โ†“
  • Elevated PT/PTT
 Bone marrow examination +

laboratory findings

Acute leukemia[64][65] + + โˆ’ ยฑ ยฑ AML in adults
  • Exposure to chemicals
  • Radiation
  • Pre-existent blood disorders
 ยฑ Petechiae + Nl ยฑ โˆ’ โ†“ โ†“ โ†“
  • Blast cells
 Bone marrow examination
Paroxysmal nocturnal hemoglobinuria (PNH)[66]
  • Mutations
 + + โˆ’ โˆ’ + Any age

(usually younger adults)

โˆ’ โˆ’ โˆ’ Nl โˆ’ โˆ’ โ†“/Nl โ†“ โ†“/Nl
  • Hypocellular marrow in certain stages of the disease
 Flow cytometry
Condition Etiology Decreased platelet production Platelet destruction in blood Platelet destruction in spleen Inherited Acquried Demography History Fever Rash Bleeding BP Splenomegaly Jaundice Other signs Plt HB WBC PBS Bone marrow exam UA Gold standard Associated findings
Thrombotic microangiopathy (TMA) Thrombotic thrombocytopenic purpura (TTP)[67]
  • Deficiency of, or antibodies to, the metalloprotease ADAMTS13
 โˆ’ + โˆ’ ยฑ + Any age
  • Neurologic manifestations
  • Fatigue due to anemia
 + Petechiae Not common Nl or โ†‘ โˆ’ + โ†“ โ†“ Nl

or โ†‘

  • Fragmented RBCs
 NA Laboratory findings
Hemolytic uremic syndrome (HUS)[68] โˆ’ + โˆ’ ยฑ + Children
  • Exposure to contaminated water or milk
  • Consuming undercooked ground beef
 + Petechiae โˆ’ โ†“ โˆ’ + โ†“ โ†“ Nl

or โ†‘

  • Fragmented RBCs
 NA Laboratory findings
DIC[69][70]
  • Overstimulation of the coagulation system
 + + โˆ’ โˆ’ + Any age + + + โ†“ โˆ’ + โ†“ โ†“โ†“ โ†‘ Clinical manifestation + laboratory findings
Nutrient deficiencies Folate, vitamin B12, copper deficiencies[71][72]
  • Decreased platelet production
 + โˆ’ โˆ’ โˆ’ + Any age
  • Malnutrition
  • Alcohol use
 โˆ’ โˆ’ โˆ’ Nl โˆ’ โˆ’ โ†“ โ†“ Nl Nl Laboratory findings
Condition Etiology Decreased platelet production Platelet destruction in blood Platelet destruction in spleen Inherited Acquried Demography History Fever Rash Bleeding BP Splenomegaly Jaundice Other signs Plt HB WBC PBS Bone marrow exam UA Gold standard Associated findings
Congenital platelet disorders[73][74][75] MYH9-related disorders[76] + โˆ’ โˆ’ + โˆ’ Any age, very rare
  • Positive family history
 โˆ’ + Nl โˆ’ โˆ’ โ†“ โ†“ Nl
  • Dรถhle body-like inclusions in peripheral blood neutrophils
 NA Nl Genetic study
Bernard-Soulier syndrome[77]
  • Absence of Gp Ib-IX-V
 + โˆ’ โˆ’ + โˆ’ Children, rare
  • Positive family history
 โˆ’ โˆ’ + Nl โˆ’ โˆ’ โˆ’ โ†“ Nl Nl Nl Flow cytometry
Gray platelet syndrome[78] + โˆ’ โˆ’ + โˆ’ Rare
  • Positive family history
 โˆ’ +

Mucocutaneous

Nl + โˆ’ โ†“ Nl Nl Nl Genetic study
Wiskott-Aldrich syndrome[79] + โˆ’ โˆ’ + โˆ’ Rare
  • Positive family history
 โˆ’ + Nl โˆ’ โˆ’ Bloody diarrhea โ†“ Nl Nl Nl Genetic study
Thrombocytopenia with absent radius (TAR) syndrome[80] + โˆ’ โˆ’ + โˆ’ Children
  • Positive family history
 โˆ’ + + Nl โˆ’ โˆ’ โ†“ Nl Nl or โ†‘ Nl Evidence of absent radius

+

Laboratory findings

  • Cow’s milk allergy
  • Various other anomalies
Fechtner syndrome[81]
  • Mutation of chromosome 22q11-13
 + โˆ’ โˆ’ + โˆ’ Children
  • Positive family history
 โˆ’

petechia

+ Mucocutaneous Nl โˆ’ โˆ’
  • Hearing loss
  • Eye abnormalities
 โ†“ Nl Nl or โ†‘ NA Clinical manifestation + genetic study
Von Willebrand disease[82]
  • VWF deficiency/dysfunction
 + โˆ’ โˆ’ + Rarely More common with O blood type
  • Positive family history
 โˆ’ โˆ’ + โˆ’ โˆ’ โˆ’ โˆ’ Nl/ โ†“ Nl/โ†“ Nl NA Laboratory findings
  • Lifelong bleeding disorder
Condition Etiology Decreased platelet production Platelet destruction in blood Platelet destruction in spleen Inherited Acquried Demography History Fever Rash Bleeding BP Splenomegaly Jaundice Other signs Plt HB WBC PBS Bone marrow exam UA Gold standard Associated findings
ITP[83] + + โˆ’ โˆ’ + Any age โˆ’ โˆ’

petechia

+ Mucocutaneous Nl โˆ’ โˆ’ โˆ’ โ†“โ†“โ†“ Nl Nl Nl Nl Diagnosis of exclusion
  • Spontaneous remission
Systemic lupus erythematosus[84] โˆ’ + โˆ’ โˆ’ + Young women, more prevalent in Africans and Asians + Malar rash, generalized maculopapular rash, discoid rash +

Hemoptysis

Nl or โ†‘ + + โ†“ โ†“ โ†“ Clinical manifestation + serology
Antiphospholipid syndrome[85]
  • Autoantibody-mediated syndrome
 โˆ’ + โˆ’ + + Middle aged women, more in African American and Hispanic population โˆ’ โˆ’ โˆ’ Nl โˆ’ โˆ’ โ†“ Nl โ†“ Clinical manifestation + repeated positive tests of aPL
Felty’s syndrome[86] โˆ’ + + ยฑ + Rare, young women โˆ’ โˆ’ Nl + โˆ’
  • Lymphadenopathy
 โ†“ Nl โ†“ Nl Clinical manifestation
Condition Etiology Decreased platelet production Platelet destruction in blood Platelet destruction in spleen Inherited Acquried Demography History Fever Rash Bleeding BP Splenomegaly Jaundice Other signs Plt HB WBC PBS Bone marrow exam UA Gold standard Associated findings
Bacterial infections Sepsis[87] + + โˆ’ โˆ’ + Any + ยฑ Nl to โ†“ โˆ’ ยฑ โ†“/โ†‘ Nl โ†‘โ†‘ NA
  • Elevated PT/PTT
 Clinical manifestation + culture
  • Associated with โ†‘ mortality
Helicobacter pylori[88]
  • Immune thrombocytopenia
 โˆ’ + โˆ’ โˆ’ + Any โˆ’ โˆ’ โˆ’ โˆ’ Nl โˆ’ โˆ’ โ†“ Nl Nl NA Nl Clinical manifestation + culture
Tick-borne infection[89]
  • Immune thrombocytopenia
 โˆ’ + โˆ’ โˆ’ + Endemic area like China, Japan, and Korea
  • Being bitten by a tick
 + ยฑ Nl to โ†“ ยฑ ยฑ โ†“ Nl โ†“ NA PCR
Viral infections HIV[90]
  • Immune thrombocytopenia
 + + + โˆ’ + Any
  • High risk behaviors
  • Close contact
 + ยฑ Nl to โ†“ ยฑ ยฑ โ†“ โ†“ โ†“ Isolation of HIV
Other viruses such as rubella, mumps, varicella, parvovirus, hepatitis C, & Epstein-Barr virus[91]
  • Immune thrombocytopenia
 + โˆ’ โˆ’ โˆ’ + Any
  • High risk behaviors
  • Close contact
 + โˆ’ Nl ยฑ ยฑ โ†“ โ†“ โ†“ Clinical manifestation + lab tests
Parasitic infections Malaria[92]
  • Unknown
  • Immune thrombocytopenia
 + โˆ’ โˆ’ โˆ’ + Endemic area
  • Being bitten by a mosquito
 + โˆ’ ยฑ Nl to โ†“ ยฑ ยฑ โ†“ โ†“ โ†“ Clinical manifestation + microscopic examination of blood smear
Babesiosis[93]
  • Unknown
  • Immune thrombocytopenia
 + โˆ’ โˆ’ โˆ’ + Rare + โˆ’ ยฑ Nl to โ†“ ยฑ ยฑ โ†“ โ†“ โ†“ Clinical manifestation + microscopic examination of blood smear
Condition Etiology Decreased platelet production Platelet destruction in blood Platelet destruction in spleen Inherited Acquried Demography History Fever Rash Bleeding BP Splenomegaly Jaundice Other signs Plt HB WBC PBS Bone marrow exam UA Gold standard Associated findings
Antibiotics/

Antiepileptic[94]

  • Occurrence of drug-dependent, platelet-reactive antibodies
 + + โˆ’ โˆ’ + Any
  • Drug ingestion or injection
 โˆ’ โˆ’ Nl โˆ’ โˆ’ โˆ’ โ†“โ†“ โ†“ Nl NA Nl Clinical manifestation + exclusion of the other causes NA
Heparin-induced thrombocytopenia[95]
  • Anti-heparin/PF4 antibody
 โˆ’ + โˆ’ โˆ’ + Any
  • Heparin injection
 โˆ’
  • Necrotic skin lesions
 โˆ’ Nl โˆ’ โˆ’ โˆ’ โ†“ Nl Nl NA Nl ELISA
Cytotoxic chemotherapy[96] + โˆ’ โˆ’ โˆ’ + Patients with malignancy
  • Drug ingestion or injection
  • Cancer
 โˆ’ โˆ’ Nl โˆ’ โˆ’ โˆ’ โ†“ โ†“ โ†“
  • Megakaryocytic hypoplasia or aplasia
 Clinical manifestation + exclusion of the other causes
Radiation therapy[97] + โˆ’ โˆ’ โˆ’ + Patients with malignancy โˆ’ + Nl โˆ’ โˆ’ โˆ’ โ†“ โ†“ โ†“
  • Megakaryocytic hypoplasia or aplasia
 Clinical manifestation + exclusion of the other causes
Chronic liver disease[98] + โˆ’ โˆ’ โˆ’ + Any โˆ’ + โ†“ + + โˆ’ โ†“ โ†“ Nl NA Biopsy
Portal hypertension[99] + โˆ’ โˆ’ โˆ’ + Any โˆ’ + โ†“ + + โˆ’ โ†“ โ†“ Nl NA
  • Elevated PT/PTT
 Clinical manifestation
Condition Etiology Decreased platelet production Platelet destruction in blood Platelet destruction in spleen Inherited Acquried Demography History Fever Rash Bleeding BP Splenomegaly Jaundice Other signs Plt HB WBC PBS Bone marrow exam UA Gold standard Associated findings
Giant capillary hemangioma (Kasabach-Merritt syndrome)[100][101] โˆ’ + โˆ’ + โˆ’ Infants โˆ’ Intralesional bleeding Nl โˆ’ โˆ’ Visceral hemangiomas โ†“โ†“ โ†“โ†“ Nl Normocytic normochromic erythrocytes and markedly reduced platelets Normal erythropoiesis, myelopoiesis, and megakaryocytic hyperplasia Biopsy
  • Kaposiform hemangioendothelioma
  • Tufted angioma
Cardiopulmonary bypass[102] โˆ’ + โˆ’ โˆ’ + Elderly โˆ’ + Nl or โ†‘ โˆ’ โˆ’ โˆ’ โ†“ โ†“ Nl Normocytic normochromic erythrocytes and markedly reduced platelets NA Clinical manifestation
Alcohol[103] + โˆ’ + โˆ’ + Any โˆ’ โˆ’ โˆ’ Nl + + โ†“ โ†“ โ†“ Cytopenia, macrocytosis Cytopenia, macrocytosis
  • Elevated PT/PTT
 Clinical manifestation
Post-transfusion purpura[104][105] โˆ’ + โˆ’ โˆ’ + Women โˆ’ + โ†“ โˆ’ โˆ’ โˆ’ โ†“โ†“โ†“ โ†“ Nl Nl NA Nl Positive circulating alloantibody to a common platelet antigen
  • Severe but rare reaction
Gestational thrombocytopenia[106]
  • Might be physiologic adaptation of pregnancy
 โˆ’ โˆ’ โˆ’ โˆ’ + Pregnant women
  • Positive history of mild thrombocytopenia
 โˆ’ โˆ’ โˆ’ Nl โˆ’ โˆ’ โˆ’ โ†“ Nl Nl Nl NA Nl Diagnosis of exclusion
  • Self-limited condition
HELLP syndrome[107][108]
  • Unknown
 โˆ’ + โˆ’ โˆ’ + Pregnant > 25 years โˆ’ โˆ’ + โ†‘ โˆ’ + โ†“ โ†“ Nl Schistocytes NA Proteinuria Lab abnormalities
Idiopathic cyclic thrombocytopenia[109] + + โˆ’ โˆ’ + Females with the median age of onset 35 years
  • Misdiagnosed as ITP with uniformly poor responses
 โˆ’ Minor mucocutaneous bleeding Nl โˆ’ โˆ’ โˆ’ โ†“ Nl Nl Reduced platelets and megakaryocytes Megakaryocytic hypoplasia or aplasia Nl Diagnosis of exclusion
Pseudothrombocytopenia[110] โˆ’ โˆ’ โˆ’ โˆ’ + Rare Collected sample in EDTA anticoagulant โˆ’ โˆ’ โˆ’ Nl โˆ’ โˆ’ โˆ’ โ†“ Nl Nl Low platelet count and platelet clumps Low platelet count and platelet clumps Nl Repeat collecting sample in a heparin tube Nl
Condition Etiology Decreased platelet production Platelet destruction in blood Platelet destruction in spleen Inherited Acquried Demography History Fever Rash Bleeding BP Splenomegaly Jaundice Other signs Plt HB WBC PBS Bone marrow exam UA Gold standard Associated findings

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1];Associate Editor(s)-in-Chief: Hannan Javed, M.D.[2] Zahir Ali Shaikh, MD[3] Nawal Muazam M.D.[4] Amandeep Singh M.D.[5]

Epidemiology & Demographics

Epidemiology & Demographics

Overview

The incidence of myelodysplastic syndrome is approximately 4.4 to 4.6 cases per 100,000 individuals in the United States.[1] Myelodysplastic syndrome commonly affects individuals older than 50 years of age.[2] Males are more commonly affected with myelodysplastic syndrome than females.[1] Myelodysplastic syndrome usually affects individuals of the Caucasian race.[1]

Epidemiology and Demographics

Incidence

The incidence of myelodysplastic syndrome is approximately 4.4 to 4.6 cases per 100,000 individuals in the United States. MDS are diagnosed in slightly more than 10,000 people in the United States yearly.[1]

Age

Myelodysplastic syndrome commonly affects individuals older than 50 years of age.[2]

Gender

Males are more commonly affected with myelodysplastic syndrome than females.[1]

Race

Myelodysplastic syndrome usually affects individuals of the Caucasian race.[1]

References

  1. โ†‘ 1.0 1.1 1.2 1.3 1.4 1.5 Incidence and mortality of myelodysplastic syndromes. National Cancer Institute 2015. http://www.cancer.gov/types/myeloproliferative/hp/myelodysplastic-treatment-pdq#link/_291_toc. Accessed on December 3, 2015
  2. โ†‘ 2.0 2.1 Natelson, Ethan A.; Pyatt, David (2013). “Acquired Myelodysplasia or Myelodysplastic Syndrome: Clearing the Fog”. Advances in Hematology. 2013: 1โ€“11. doi:10.1155/2013/309637. ISSNย 1687-9104.


Template:WikiDoc Sources

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1];Associate Editor(s)-in-Chief: Nawal Muazam M.D.[2]

Risk Factors

Risk Factors

Overview

Common risk factors in the development of myelodysplastic syndrome are past treatment with chemotherapy, radiation therapy, past exposure to tobacco smoke, ionizing radiation, organic chemicals, and heavy metals.[1]

Myelodysplastic syndrome risk factors

Common risk factors for the development of myelodysplastic syndrome include:[1]

References

  1. โ†‘ 1.0 1.1 Risk factors of myelodysplastic syndrome. National Cancer Institute (2015). http://www.cancer.gov/types/liver/hp/child-liver-treatment-pdq#link/_570_toc. Accessed on December 7, 2015


Template:WikiDoc Sources

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1];Associate Editor(s)-in-Chief: Nawal Muazam M.D.[2]

Screening

Screening

Overview

There is insufficient evidence to recommend routine screening for myelodysplastic syndrome.

Myelodysplastic syndrome screening

  • There is insufficient evidence to recommend routine screening for myelodysplastic syndrome.[1]

References

  1. โ†‘ Myelodysplastic syndrome. USPSTF. http://www.uspreventiveservicestaskforce.org/BrowseRec/Search?s=myelodysplastic+syndrome Accessed on December 17, 2018


Template:WikiDoc Sources

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1];Associate Editor(s)-in-Chief: Nawal Muazam M.D.[2] Amandeep Singh M.D.[3]

Natural History, Complications & Prognosis

Natural History, Complications & Prognosis

Overview

If left untreated, a high percentage of patients with myelodysplastic syndrome may progress to develop acute myeloid leukemia or die due to bone marrow failure. Common complications of myelodysplasia include progression to acute myeloid leukemia, bone marrow failure, infection, hemorrhage, and iron overload. Prognosis is generally poor, and the 5-year survival rate of patients with high IPSS score myelodysplastic syndrome is approximately 55%.

Natural history

If left untreated, patients with myelodysplastic syndrome may progress to develop weight loss, bone marrow failure, infection, hemorrhage, and iron overload.[1]

Complications

Common complications of myelodysplasia include:[1]

Prognosis

Prognosis is generally poor, and the 5-year survival rate of patients with high IPSS score myelodysplastic syndrome is approximately 55%. A variety of pathologic and risk classification systems have been developed to predict the overall survival of patients with myelodysplastic syndrome and the evolution from myelodysplastic syndrome to acute myeloid leukemia. Major prognostic classification systems include the International Prognostic Scoring System (IPSS), revised as the IPSS-R; the WHO Prognostic Scoring System (WPSS), and the MD Anderson Cancer Center Prognostic Scoring Systems. Clinical variables in these systems have included bone marrow and blood myeloblast percentage, specific cytopenias, transfusion requirements, age, performance status, and bone marrow cytogenetic abnormalities.[6]

IPSS

The IPSS incorporates bone marrow blast percentage, number of peripheral blood cytopenias, and cytogenetic risk group.[6]

IPSS-R

Compared with the IPSS, the IPSS-R updates and gives greater weight to cytogenetic abnormalities and severity of cytopenias, while reassigning the weighting for blast percentages.[6]

WPSS

In contrast to the IPSS and IPSS-R, which should be applied only at the time of diagnosis, the WPSS is dynamic, meaning that patients can be reassigned categories as their disease progresses.[6]

References

  1. โ†‘ 1.0 1.1 Natelson, Ethan A.; Pyatt, David (2013). “Acquired Myelodysplasia or Myelodysplastic Syndrome: Clearing the Fog”. Advances in Hematology. 2013: 1โ€“11. doi:10.1155/2013/309637. ISSNย 1687-9104.
  2. โ†‘ Weisdorf DJ, Oken MM, Johnson GJ, Rydell RE (December 1983). “Chronic myelodysplastic syndrome: short survival with or without evolution to acute leukaemia”. Br. J. Haematol. 55 (4): 691โ€“700. PMIDย 6608368.
  3. โ†‘ Pomeroy C, Oken MM, Rydell RE, Filice GA (March 1991). “Infection in the myelodysplastic syndromes”. Am. J. Med. 90 (3): 338โ€“44. PMIDย 2003516.
  4. โ†‘ Bennett JM (November 2008). “Consensus statement on iron overload in myelodysplastic syndromes”. Am. J. Hematol. 83 (11): 858โ€“61. doi:10.1002/ajh.21269. PMIDย 18767130.
  5. โ†‘ Gattermann N (July 2008). “Overview of guidelines on iron chelation therapy in patients with myelodysplastic syndromes and transfusional iron overload”. Int. J. Hematol. 88 (1): 24โ€“29. doi:10.1007/s12185-008-0118-z. PMCย 2516534. PMIDย 18581200.
  6. โ†‘ 6.0 6.1 6.2 6.3 Prognostic Scoring Systems of myelodysplastic syndrome. National Cancer Institute (2015). http://www.cancer.gov/types/myeloproliferative/hp/myelodysplastic-treatment-pdq/#link/_204_toc. Accessed on December 11, 2015

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1];Associate Editor(s)-in-Chief: Nawal Muazam M.D.[2]Amandeep Singh M.D.[3]

Diagnosis

Diagnosis

History and Symptoms | Physical Examination | Laboratory Findings | Electrocardiogram | Chest X Ray | CT | MRI | Other Imaging Findings | Other Diagnostic Studies

Treatment

Treatment

Medical Therapy | Surgery | Primary Prevention | Secondary Prevention | Cost-Effectiveness of Therapy | Future or Investigational Therapies

Case Studies

Case Studies

Case #1

Related chapters


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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Nawal Muazam M.D.[2] Amandeep Singh M.D.[3]