Sideroblastic Anemias Clinical Presentation

Updated: Feb 01, 2021
  • Author: Nandakumar Mohan, DO; Chief Editor: Emmanuel C Besa, MD  more...
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Presentation

History

The following clinical history features are suggestive of sideroblastic anemia:

  • Incoordination (cerebellar symptoms)
  • Failure of growth
  • Fatigue
  • Diarrhea (malabsorption)
  • History of exposure to cold for prolonged periods
  • Family history of mitochondrial disease and anemia
  • Medication history of antibiotics, antituberculous agents, chelators, or chemotherapy
  • Ingestion of supplements, especially zinc
  • Prolonged dependence on parenteral nutrition, with insufficient replacement of copper
  • Long-term dialysis with higher than normal zinc levels in dialysis fluid
  • Psychiatric disease with possible coin ingestion [64]
  • Alcoholism
  • Exposure to lead, such as via pipes in older houses
  • History of myelodysplastic syndrome
  • General symptoms of anemia, including malaise, fatigue, and dyspnea on exertion
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Physical Examination

The following physical examination features are suggestive of sideroblastic anemia:

  • General - Growth retardation in children
  • Vital signs - Hypothermia, hypotension, tachycardia
  • Eyes - Scleral icterus
  • Oral - Lead line on teeth margins
  • Skin - Photosensitivity (porphyria), petechiae (myelodysplastic syndrome), jaundice, bronze coloring
  • Neurologic - Ataxia, diminished deep-tendon reflexes, incoordination
  • Cardiovascular - Fatigue, heart failure symptoms such as shortness of breath, jugular venous distension, orthopnea, paroxysmal nocturnal dyspnea, peripheral edema
  • Respiratory - Dyspnea
  • Abdominal - Splenomegaly, abdominal tenderness secondary to bleeding, abdominal distension, caput medusae, spider angiomata, abdominal striae
  • Musculoskeletal - Muscular weakness, arthralgias
  • Genitourinary - Pink staining of diapers from porphyrins in urine, erectile dysfunction
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Complications

Any complication of anemia in general, such as bleeding, high-output heart failure, significant fatigue, and weight loss, may be seen in sideroblastic anemias. See Anemia. Complications specific to sideroblastic anemia result primarily from iron overload throughout the body's organ systems, especially the liver and rarely the heart. Iron overload is a result of ineffective erythropoiesis caused by mitochondrial iron toxicity, which increases iron absorption. [65]  Thus, patients with underlying sideroblastic anemia can present with evidence of acute liver failure or cirrhosis, due to the accumulation of iron in the liver, or heart failure due to the accumulation of iron in the heart.

 

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