Myelodysplastic syndromes

Myelodysplastic syndromes

Modulo 3 BPT

Modulo 3 BPT

Nuclear structure
DNA structure
Transcription of DNA
Translation of mRNA
Gene regulation
Epigenetics
Amino acids and protein folding
Protein structure and synthesis
Nucleotide metabolism
DNA replication
Lac operon
DNA damage and repair
Cell cycle
Mitosis and meiosis
DNA mutations
Lesch-Nyhan syndrome
Orotic aciduria
Adenosine deaminase deficiency
Xeroderma pigmentosum
Li-Fraumeni syndrome
Bloom syndrome
Fanconi anemia
McCune-Albright syndrome
Acute radiation syndrome
Purine and pyrimidine synthesis and metabolism disorders: Pathology review
Polymerase chain reaction (PCR) and reverse-transcriptase PCR (RT-PCR)
Gel electrophoresis and genetic testing
ELISA (Enzyme-linked immunosorbent assay)
Karyotyping
DNA cloning
Fluorescence in situ hybridization
Mendelian genetics and punnett squares
Hardy-Weinberg equilibrium
Inheritance patterns
Independent assortment of genes and linkage
Evolution and natural selection
Down syndrome (Trisomy 21)
Edwards syndrome (Trisomy 18)
Patau syndrome (Trisomy 13)
Fragile X syndrome
Huntington disease
Myotonic dystrophy
Friedreich ataxia
Turner syndrome
Klinefelter syndrome
Prader-Willi syndrome
Angelman syndrome
Beckwith-Wiedemann syndrome
Cri du chat syndrome
Williams syndrome
Alagille syndrome (NORD)
Achondroplasia
Polycystic kidney disease
Familial adenomatous polyposis
Familial hypercholesterolemia
Hereditary spherocytosis
Marfan syndrome
Multiple endocrine neoplasia
Neurofibromatosis
Tuberous sclerosis
von Hippel-Lindau disease
Albinism
Cystic fibrosis
Gaucher disease (NORD)
Glycogen storage disease type I
Glycogen storage disease type II (NORD)
Glycogen storage disease type III
Glycogen storage disease type IV
Glycogen storage disease type V
Hemochromatosis
Mucopolysaccharide storage disease type 1 (Hurler syndrome) (NORD)
Krabbe disease
Leukodystrophy
Niemann-Pick disease types A and B (NORD)
Niemann-Pick disease type C
Primary ciliary dyskinesia
Phenylketonuria (NORD)
Sickle cell disease (NORD)
Tay-Sachs disease (NORD)
Alpha-thalassemia
Beta-thalassemia
Wilson disease
Alport syndrome
X-linked agammaglobulinemia
Fabry disease (NORD)
Glucose-6-phosphate dehydrogenase (G6PD) deficiency
Hemophilia
Mucopolysaccharide storage disease type 2 (Hunter syndrome) (NORD)
Muscular dystrophy
Ornithine transcarbamylase deficiency
Wiskott-Aldrich syndrome
Mitochondrial myopathy
Autosomal trisomies: Pathology review
Muscular dystrophies and mitochondrial myopathies: Pathology review
Miscellaneous genetic disorders: Pathology review
Blood histology
Blood components
Erythropoietin
Blood groups and transfusions
Platelet plug formation (primary hemostasis)
Coagulation (secondary hemostasis)
Role of Vitamin K in coagulation
Clot retraction and fibrinolysis
Iron deficiency anemia
Sideroblastic anemia
Anemia of chronic disease
Lead poisoning
Hemolytic disease of the newborn
Autoimmune hemolytic anemia
Pyruvate kinase deficiency
Paroxysmal nocturnal hemoglobinuria
Aplastic anemia
Megaloblastic anemia
Folate (Vitamin B9) deficiency
Vitamin B12 deficiency
Diamond-Blackfan anemia
Acute intermittent porphyria
Porphyria cutanea tarda
Vitamin K deficiency
Bernard-Soulier syndrome
Glanzmann's thrombasthenia
Hemolytic-uremic syndrome
Immune thrombocytopenia
Thrombotic thrombocytopenic purpura
Von Willebrand disease
Disseminated intravascular coagulation
Heparin-induced thrombocytopenia
Antithrombin III deficiency
Factor V Leiden
Protein C deficiency
Protein S deficiency
Antiphospholipid syndrome
Hodgkin lymphoma
Non-Hodgkin lymphoma
Chronic leukemia
Acute leukemia
Myelodysplastic syndromes
Polycythemia vera (NORD)
Myelofibrosis (NORD)
Essential thrombocythemia (NORD)
Langerhans cell histiocytosis
Mastocytosis (NORD)
Microcytic anemia: Pathology review
Non-hemolytic normocytic anemia: Pathology review
Intrinsic hemolytic normocytic anemia: Pathology review
Extrinsic hemolytic normocytic anemia: Pathology review
Macrocytic anemia: Pathology review
Heme synthesis disorders: Pathology review
Coagulation disorders: Pathology review
Platelet disorders: Pathology review
Mixed platelet and coagulation disorders: Pathology review
Thrombosis syndromes (hypercoagulability): Pathology review
Lymphomas: Pathology review
Leukemias: Pathology review
Plasma cell disorders: Pathology review
Myeloproliferative disorders: Pathology review
Ribonucleotide reductase inhibitors
Topoisomerase inhibitors
Platinum containing medications
Anti-tumor antibiotics
Microtubule inhibitors
DNA alkylating medications
Monoclonal antibodies
Antimetabolites for cancer treatment
Prostate cancer
Benign prostatic hyperplasia
Testicular cancer
Ovarian surface epithelial tumors
Ovarian germ cell tumors
Ovarian sex-cord stromal tumors
Endometrial cancer
Cervical cancer
Breast cancer
Disorders of sex chromosomes: Pathology review
Testicular tumors: Pathology review
Ovarian cysts and tumors: Pathology review
Cervical cancer: Pathology review
Breast cancer: Pathology review
Colorectal cancer
Carcinoid syndrome
Irritable bowel syndrome
Colorectal polyps and cancer: Pathology review
Seizures and epilepsy
Dementia: Pathology review
Movement disorders: Pathology review
Demyelinating disorders: Pathology review
Neuromuscular junction disorders: Pathology review
Adult brain tumors: Pathology review
Inflammatory bowel disease: Pathology review
Bowel obstruction

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Content Reviewers

Myelodysplastic syndromes, or MDS, are a group of rare blood disorders associated with faulty development of blood cells in the bone marrow.

MDS can affect individuals of all ages, but it’s more common after the age of 60.

Blood cells develop from hematopoietic stem cells, through a process called hematopoiesis.

This involves a number of divisions, and eventually, results in three types of blood cells: red blood cells, which carry oxygen around our bodies, white blood cells to help fight disease causing pathogens, and platelets that help form clots to stop bleeding.

Once these cells are fully mature, they leave the bone marrow and enter the bloodstream.

In MDS, hematopoietic stem cells are damaged, so they give rise to faulty blood cells, which don’t mature, but instead persist as immature cells, called blasts.

These immature blood cells usually die in the bone marrow or soon after they go into the blood, so you can’t really count on them to do the job of mature blood cells.

As the condition progresses, immature blood cells gradually take over the bone marrow, which displaces and reduces the normal ones.

In most cases, the cause of MDS is not known.

When this happens, it's classified as primary MDS.

In rare cases, they can be caused by chemo or radiation therapy, and this is called secondary MDS.

MDS comprises a spectrum of diseases with differing potential for remaining stable or progressing to acute myeloid leukemia, or AML.

The most common feature of MDS is anemia, caused by low red blood cell levels.

Symptoms of anemia include dizziness, irritability, headaches, and pale skin.

Low white blood cell levels increase the risk of bacterial and fungal infections.

Finally, low levels of platelets cause excessive bruising following minimal injury and easy bleeding.

Now, MDS usually worsens with time, as normal bone marrow function diminishes.

40-50 percent of the time, MDS deteriorates into a form of cancer known as acute myeloid leukemia, or AML.

This happens when there are more than 20% blasts in the bone marrow.

Diagnosis requires a variety of specialized tests including complete blood counts, a peripheral blood smear, as well as bone marrow aspiration and biopsy.

On a complete blood count, there may be low levels of one, two or all of the three blood cell types.

On a peripheral blood smear, there may be big and oval-shaped red blood cells and abnormal white blood cells and platelets.

The bone marrow sample may show an increase in cell count with dysplastic changes in the three blood cell types.

Key Takeaways

Myelodysplastic syndromes or just MDS, refer to a group of disorders in which the bone marrow does not produce enough healthy blood cells, usually for unknown causes. Symptoms can include fatigue, shortness of breath, and an increased risk of infection and bleeding. Treatment options for MDS include medications, transfusions, and bone marrow transplantation, depending on the severity of the condition.

Sources

  1. "Harrison's Principles of Internal Medicine" McGraw Hill Education/ Medical (2018)
  2. "CURRENT Medical Diagnosis and Treatment 2020" McGraw-Hill Education / Medical (2019)
  3. "Yen & Jaffe's Reproductive Endocrinology" Saunders W.B. (2018)
  4. "Bates' Guide to Physical Examination and History Taking" LWW (2016)
  5. "Robbins Basic Pathology" Elsevier (2017)
  6. "Red blood cell morphology" International Journal of Laboratory Hematology (2013)
  7. "Evidence-Based Minireview: Myelodysplastic syndrome/myeloproliferative neoplasm overlap syndromes: a focused review" Hematology (2020)