A 15 month old with Severe Iron Deficiency Anemia Presenting with Protein Losing Enteropathy

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We present a case of a common disease presenting with an unusual sequela: a 15 month old previously healthy female presenting with a shaking episode and periorbital edema, found to have a severe microcytic anemia (hemoglobin of 4.5 g/dL, mean corpuscular volume of 62.3 fL), and hypoalbuminemia (albumin of 1.4 g/dL). The patient was ultimately diagnosed with a unifying diagnosis of iron deficiency anemia due to excessive milk intake leading to the rare sequela of protein losing enteropathy. It is well known that iron deficiency anemia is the most common nutritional deficiency in the United States and may lead to potential neurocognitive development impairment. Protein losing enteropathy, however, is uncommonly recognized and rare in its association with severe iron deficiency anemia. 


Iron deficiency anemia (IDA) is the most common nutritional deficiency in the US (1). Iron is critical for many biologic processes, most notably oxygen transport found in hemoglobin (1). Anemia is defined as a hemoglobin concentration of less than 11 g/dL for children ages 6 to 24 months (1). IDA is characteristically microcytic with a mean corpuscular volume less than 70 fL and a low reticulocyte count (4). The main risk factor for IDA in the US is consumption of large amounts of unfortified cow's milk which has poor iron absorption from low bioavailability and, in some cases, occult gastrointestinal bleeding (2). Consequences of IDA can include imaired neurocognitive development, visual and auditory processing, and exercise capacity. Severe IDA has also been associated with protein losing enteropathy (PLE) (1). PLE is characterized by loss of proteins through the gastrointestinal tract leading to hypoproteinemia, specifically hypoalbuminemia, which results in edema, and even anasarca (3). PLE has many primary and secondary causes, such as mucosal injury from gastrointestinal pathology such as infections, celiac disease, and milk protein allergy; or lymphatic abnormalities from portal hypertension or congestive heart failure (5). The causal link between PLE and severe IDA is still unclear. Ultimately, treatment of the underlying cause is the most ideal therapy. Restriction of milk intake and treatment with iron supplements will normalize both the hemoglobin and albumin levels (5). 

Chief Complaint :

15 month old female with 1 month history of "puffy eyes" and fatigue. 


The patient presented to the emergency department (ED) following a "shaking episode" with altered mental status and extreme fatigue. Parents report swollen eyelids for one month and increased fatigue that became more severe over the past couple of weeks. She was seen by her pediatrician twice for the eyelid swelling where her urine was negative for protein and she was prescribed erythromycin ophthalmic ointment without improvement in her symptoms. During the shaking episode she was alert, crying, and responsive. The episode resolved at home without intervention. In the ED she was found to have severe anemia and hypoalbuminemia upon initial evaluation. She was admitted for further diagnostic evaluation. Family history was negative for anemia or gastrointestinal disease. Patient was noted to have normal stools and excessive cow's milk intake.


Temp 97.6F, HR 145 bpm, BP 86/46, SpO2 100% on room air, Wg 9.48 kg

Physical exam:

General - alert, fussy but consolable, active, pale complexion, well nourished

HENT - bilateral periorbital edema, no conjunctival injection, moist mucous membranes, clear rhinorrhea

Cardiac - tachycardic rate with a regular rhythm, systolic murmur present, 2+ distal pulses 

Respiratory - comfortable work of breathing, breath sounds were clear to auscultation throughout

Gastrointestinal - no distention, normal bowel sounds, soft and nontender to palpation, liver edge 1cm below costal margin, spleen was not palpable

Musculoskeletal - pitting edema present up to mid shin bilaterally 

Skin - no rashes or lesions

Neurologic - pupils equal and reactive to light, symmetric cry, moves all extremities equally, resisting exam with good strength in arms and legs, sitting independently without truncal ataxia

Laboratory results: 

CBC from 12 month well visit:  Hemoglobin (HgBb) 12.5 g/dL, negative lead.

CBC: Hgb 4.5 g/dL (10.2-12.6 mg/dL), Mean Corpuscular Volume (MCV) 62.3 fL (70.4-82.1 fL),red cell distribution width of 25% (13-15%)

Peripheral smear: hypochromic anemia with target cells, tear-drop cells, and other abnormal red blood cells with elevated red cell distribution width

CMP: Otherwise normal electrolytes, Albumin 1.4 g/dL (3.8-5.4 g/dL), AST 31 U/L (20-60 U/L), ALT 17 (5-55 U/L), bilirubin <0.1

Iron Studies: Iron 51 ug/dL (20-140 ug/dL), TIBC of 166 ug/dL (265-497 ug/dL),  Ferritin <1, Lactate dehydrogenase (LDH) 282 U/L (164-286 U/L)

Stool studies: Alpha-1 antitrypsin 1,034, Hemeoccult stool negative

Urinalysis: normal

Infectious studies: negative influenza A and B, negative urine culture, negative blood culture 

Inflammatory studies: Sedimentation rate 17 mm/hr (0-20 mm/hr), C Reactive Protein (CRP) of 0.1 mg/dL (0 - 0.8 mg/dL)

Final Diagnosis: 

The patient was diagnosed with protein losing enteropathy secondary to iron deficiency anemia from excessive cow's milk consumption. The symptomatic anemia was treated with transfusion of two 5mL/kg aliquots of packed red blood cells with repeat Hgb of 8.1 g/dL. No further infectious tests or examinations were conducted. Following, her blood transfusion and appropriate response, enteral iron therapy was initiated. The patient had persistent anasarca, which was treated with an Albumin 25% infusion followed by furosemide with improvement in albumin level to 2.6 g/dL. Gastroenterology was consulted and agreed with restricting cows milk to 16 ounces or less per day. Hematology was also consulted and agreed with the rare diagnosis of PLE secondary to IDA.


This case describes a rare sequel of protein losing enteropathy due to severe iron deficiency anemia from high volume cow milk consumption. This case is interesting as the parents sought care twice for periorbital edema and the incidental shaking episode ultimately led to her diagnosis. Commonly IDA presents with pallor, fatigue, decreased appetite, and tachycardia. Rarely, will children present solely with edema and found to have PLE. This case calls attention to the need for increasing provider knowledge of severe IDA presenting with symptoms of PLE. Severe anemia and PLE can lead to unnecessary and expensive investigation as well as prolongation of hospitalization. Providers should be aware that severe IDA can cause PLE to avoid an extensive hematologic and gastrointestinal evaluation. This case also highlights the importance of taking a thorough diet history when assessing a toddler with anasarca and anemia. It also emphasizes the importance of prevention of IDA at primary care well visits by counseling parents on the importance of limited cow's milk intake and increased iron rich food in their toddler's diet as the sequel of IDA can be long lasting. Lastly, awareness of excessive milk intake leading to IDA should not preclude toddlers from dairy intake as the pathophysiology is different from milk protein allergy. Toddlers should be encouraged to eat a well balanced diet that includes dairy, specifically cow's milk, but in a limited volume.

Inova Children's Hospital
Inova Childrens Hospital
INOVA Fairfax

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