Differentials
Celiac disease
SIGNS / SYMPTOMS
Family history of celiac disease or personal history of other autoimmune diseases. Very similar presentation of nonspecific symptoms. Abdominal pain, nausea or vomiting, bloating, or excess intestinal gas common in celiac disease. Gluten intolerance is not present in abetalipoproteinemia.[4]
INVESTIGATIONS
Diagnosis is suggested by positive immunoglobulin A tissue transglutaminase serology, but must be confirmed by duodenal biopsy and histology.
Crohn disease
SIGNS / SYMPTOMS
Both patient groups present with a chronic course; however, diarrhea occurs with painful bouts in Crohn disease, whereas abetalipoproteinemia is painless. Additionally, patients with Crohn disease rarely present in infancy.
INVESTIGATIONS
Ileocolonoscopy with biopsies should be performed in the assessment of suspected Crohn disease.
Ulcerative colitis
SIGNS / SYMPTOMS
Both patient groups present with a chronic course; however, diarrhea occurs with painful bouts in ulcerative colitis, whereas abetalipoproteinemia is painless. Additionally, patients with ulcerative colitis disease rarely present in infancy.
INVESTIGATIONS
Colonoscopy with biopsy helps differentiate ulcerative colitis.
Viral gastroenteritis
SIGNS / SYMPTOMS
Abetalipoproteinemia is chronic while viral gastroenteritis is time-limited and occurs with fever.
INVESTIGATIONS
Usually a clinical diagnosis. Responds to oral rehydration therapy.
Child abuse
SIGNS / SYMPTOMS
Child abuse is generally manifested by faltering growth without steatorrhea or ocular signs and symptoms.
INVESTIGATIONS
In child abuse radiologic studies may show multiple healed fractures or suspicious spiral fractures.
Homozygotic hypobetalipoproteinemia (HHBL)
SIGNS / SYMPTOMS
Hepatic steatosis, while seen in both abetalipoproteinemia and HHBL, seems to be somewhat more prevalent in patients with HHBL.[2]
The heterozygous parent of a patient with HHBL typically has a reduced serum cholesterol concentration but is otherwise generally normal with no signs or symptoms.[7]
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