Last reviewed: 19 Sep 2021
Last updated: 23 Sep 2021

Summary

Definition

History and exam

Key diagnostic factors

  • fatigue
  • dyspnea on exertion
  • pica
  • restless legs syndrome
  • nail changes
  • dysphagia

Other diagnostic factors

  • impaired muscular performance
  • glossitis and angular stomatitis
  • dyspepsia
  • pallor
  • hair loss
  • rectal lesion on examination
  • growth impairment
  • cognitive and behavioral impairment
  • heart failure
  • recurrent infections

Risk factors

  • pregnancy
  • vegetarian and vegan diet
  • menorrhagia
  • hookworm infestation
  • chronic kidney disease
  • celiac disease
  • gastrectomy/achlorhydria
  • nonsteroidal anti-inflammatory drugs (NSAID) use
  • chronic heart failure
  • preterm or low birth weight
  • infant feeding with cows' milk
  • black women and Mexican women
  • low socioeconomic status
  • obesity
  • Helicobacter pylori infection

Diagnostic investigations

1st investigations to order

  • hemoglobin and hematocrit
  • platelet count
  • MCV
  • MCH
  • MCHC
  • red cell distribution width
  • peripheral blood smear
  • reticulocyte count
  • serum iron
  • total iron-binding capacity
  • transferrin saturation
  • serum ferritin
  • celiac serology
  • urinalysis
  • Helicobacter pylori testing

Investigations to consider

  • hemoglobin electrophoresis
  • urease breath test
  • autoimmune gastritis testing
  • upper gastrointestinal endoscopy (esophagogastroduodenoscopy)
  • small-bowel biopsy
  • lower gastrointestinal endoscopy (colonoscopy)
  • CT colonography
  • transferrin receptor-ferritin index
  • bone marrow biopsy
  • monitored trial of iron
  • fecal occult blood tests

Emerging tests

  • urinary hepcidin
  • percentage of hypochromic erythrocytes
  • reticulocyte hemoglobin content
  • erythrocyte protoporphyrin

Treatment algorithm

Contributors

Authors

Atul Mehta, MD

Consultant Haematologist

Lysosomal Storage Disorders Unit

Department of Haematology

Royal Free Hospital

London

UK

Disclosures

AM has received honoraria, travel, and research grants from Sanofi/Genzyme, Shire/Takeda/Amicus and Protalix/Pfizer; all of these companies manufacture pharmaceutical therapies for the treatment of lysosomal disorders.

Acknowledgements

Dr Atul Mehta would like to gratefully acknowledge Dr Martina Murphy, Dr Marc Zumberg, and Dr Rebecca Fischer Connor, previous contributors to this topic.

Disclosures

MZ declares that he is medical director for NCF Diagnostics and DNA Technologies, and a consultant for Alexion Pharmaceuticals. MM and RFC declare that they have no competing interests.

Peer reviewers

Carlos Aravena, MD

Internal Medicine Instructor

Member of Evidence Based Medicine Unit

Catholic University of Chile

Santiago

Chile

Disclosures

CA declares that he has no competing interests.

Jim Murray, MBBS

Consultant Haematologist

Clinical Haematology

University Hospital Birmingham NHS Trust

Birmingham

UK

Disclosures

JM declares that he has no competing interests.

Ajay Kumar, MD, FACP

Medical Director

Blood Management

Cleveland Clinic

Cleveland

OH

Disclosures

AK has received a fee for speaking about perioperative blood management from Ortho-Biotech, and has also received reimbursement from medscape.com for the education webcast of the same presentation.

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