Myelodysplastic Syndromes (MDS)

Myelodysplastic syndromes (MDS) are a heterogenous group of hematological neoplasms characterized by a clonal disorder of hematopoietic stem cells that causes ineffective hematopoiesis, dysplasia and cytopenias.¹ 

In MDS, the DNA of the hematopoietic stem cells is damaged, resulting in difficulties producing normal blood cells.²

Signs of MDS

Signs are objective, measurable changes, usually through laboratory testing, that mark disease processes.³ 

The earliest signs of MDS are often seen through blood testing, as MDS can manifest abnormal serum results before symptoms present.⁴ These laboratory signs include^4,5:

• Anemia: A decrease in the number of healthy red blood cells
• Leukopenia/neutropenia: A decrease in the number of healthy white blood cells (leukocytes), especially neutrophils
• Thrombocytopenia: A decrease in the number of healthy platelets

While some people may not initially experience any symptoms, others report concomitant symptoms that accompany these signs.³

Read more about MDS testing

Symptoms of MDS

Symptoms are changes that a person feels in the body. In MDS, many symptoms are caused by low blood counts.³

Anemia

Anemia reduces the body’s oxygen-carrying capacity,⁴ affecting cellular respiration, energy production, and metabolic function.⁶ Anemia can contribute to the development of the following symptoms^3-5:

• Fatigue
• Headache 
• Lightheadedness/dizziness
• Pallor
• Shortness of breath, even during normal physical activity, resulting in hyperventilation
• Tachycardia or arrhythmias
• Weakness

The symptoms of tachycardia and hyperventilation may occur in people with MDS-related anemia due to their efforts to restore normal oxygen levels throughout the body.⁷

Read more about MDS clinical features

Thrombocytopenia 

Thrombocytopenia reduces the body’s ability to form blood clots to stop bleeding and heal from injuries.⁴ Thrombocytopenia can contribute to the development of the following symptoms^3-5,8:

• Easy bruising or bleeding
• Frequent nosebleeds and/or bleeding gums
• Petechiae (pinhead-sized red spots under the skin due to dermal bleeding)
• Prolonged bleeding from minor abrasions or cuts

Leukopenia/Neutropenia 

Leukopenia/neutropenia reduces the ability of the body to fight off infections. Leukopenia/neutropenia can contribute to the development of the following systemic symptoms^3-5:

• Chills
• Fever
• Frequent or severe infections

Read more about MDS complications

Bone and Joint Pain

Bone pain in MDS may result from the accumulation of dying and defective blood cells in the bone marrow.⁹ Bone pain is commonly reported in the long bones of the arms and legs, the ribs, and the sternum. Joint pain often occurs in large joints, including the hips and shoulders. Joint pain often starts after the bone pain presents.¹⁰

Loss of Appetite and Resultant Weight Loss

Loss of appetite may accompany other symptoms or develop due to complications (including frequent infections that may contribute to constitutional symptoms), treatments, feelings of anxiety, depression, or stress, and/or comorbid conditions.¹¹ Loss of appetite may consequently result in weight loss, but this may not be the only reason that people with MDS lose weight.¹² 

Cachexia

Additionally, cachexia may occur despite eating normally. Cachexia is weight loss that is potentially caused due to malabsorption of nutrients or faster burning of available calories due to the cancer. Cancer cells may also release inflammatory chemicals into the bloodstream that cause muscle wasting and fat loss.^12,13 Cachexia may further exacerbate the symptoms of fatigue, weakness, an increasingly compromised immune system, and electrolyte imbalances.¹³ 

Certain progesterone analogs, such as medroxyprogesterone and megestrol acetate, can help treat cachexia. These therapies can increase appetite, while medications such as corticosteroids can reduce inflammation in the body.¹³ 

Early recognition of cachexia in people with MDS is important. It occurs when there is an imbalance in the body to metabolize, absorb, or use food that the patient eats. Referral to a registered dietitian or nutritionist to provide support and strategies to increase caloric intake and improve the quality of the calories consumed is important to counter cachexia.^11,13

Read more about MDS diet and nutrition

References

1. Dotson JL, Lebowicz Y. Myelodysplastic syndrome. In: StatPearls [Internet]. Treasure Island, FL: StatPearls Publishing; 2023. Updated July 18, 2022. Accessed June 7, 2023. 
2. Myelodysplastic syndrome. MedlinePlus. Accessed June 7, 2023.
3. Myelodysplastic syndromes – MDS: symptoms and signs. Cancer.Net. Accessed June 7, 2023.
4. Myelodysplastic syndromes: signs and symptoms. Leukemia & Lymphoma Society. Accessed June 7, 2023.
5. Signs and symptoms of myelodysplastic syndromes. American Cancer Society. Updated January 22, 2018. Accessed June 7, 2023.
6. Fischer C, Valente de Souza L, Komlódi T, et al. Mitochondrial respiration in response to iron deficiency anemia: comparison of peripheral blood mononuclear cells and liver. Metabolites. 2022;12(3):270. doi:10.3390/metabo12030270
7. Lepage R. Anemia: the disease that makes you feel like you’re running a never-ending marathon. Biron. Accessed June 7, 2023. 
8. McGrath A, Barrett MJ. Petechiae. In: StatPearls [Internet]. Treasure Island, FL: StatPearls Publishing; 2023. Updated September 12, 2022. Accessed June 7, 2023.
9. Symptoms, risk, and diagnosis of myelodysplastic syndromes. Siteman Cancer Center. Accessed June 7, 2023.
10. Disease- and treatment-related pain. Leukemia & Lymphoma Society. Accessed June 7, 2023.
11. Nutrition: information and advice & neutropenic diets: fact sheet for myelodysplastic syndrome (MDS) patients. MDS UK. September 2012. Accessed June 7, 2023.
12. Weight loss. Cancer Research UK. Accessed June 7, 2023.
13. Healy M, Arnold-Korzeniowski K. Cachexia in the cancer patient. OncoLink. Accessed June 7, 2023.

Reviewed by Debjyoti Talukdar, MD, on 6/22/2023.

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Maria Arini Lopez, PT, DPT, CSCS, CMTPT, CIMT

Maria Arini Lopez, PT, DPT, CSCS, CMTPT, CIMT is a freelance medical writer and Doctor of Physical Therapy from Maryland. She has expertise in the therapeutic areas of orthopedics, neurology, chronic pain, gastrointestinal dysfunctions, and rare diseases especially Ehlers Danlos Syndrome.