IL-10 deficiency-associated inflammatory bowel disease, Early-Onset Inflammatory Bowel Disease; also Very Early-Onset Inflammatory Bowel Disease (<2yrs of age). Subclassifications: EO-IBD25 (IL10RB), EO-IBD28 (IL10RA) and EO-IBD with IL-10 deficiency (IL10)

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Acronym:
EO-IBD, VEO-IBD

SAID group:
Il-10 deficiency-associated inflammatory bowel disease

Gene:
IL10RA, IL10RB, IL10 (deficiency)

Inheritance:
Autosomal recessive.

Ethnicity:
Not noted.

Frequency:
Rare but 25% of the cases of VEO-IBD have been found to be caused by IL-10 mutations. [98]

Timing of symptoms:
Continuous, with flares of increased symptoms, such as abdominal pain, rectal bleeding and diarrhea. A few rare cases with fevers and arthritis. [98]

Age of onset:
Onset in the first few years of life, often in early infancy. Early onset of severe enterocolitis, Crohns or ulcerative colits, perianal fistuas, and failure to thrive or impaired growth. [120] [98]

Skin cutaneous:
Recurrent folliculitis, perianal abscesses. [120] [98] Some cases with aphthous ulcers. It is recommended to also look for erythema nodosum or pyoderma gangrenosum or vitiligo, but these are uncommon. [98]

Neurologic:
Rare: Fevers. No neurologic deficits noted. [98]

Auditory:
Not noted. [120] [98]

Ophthalamic:
Not noted. [120] [98]

Cardiopulmonary:
Not noted. [120] [98]

Abdominal:
First symptoms in VEO-IBD is blood in the stools (hematochezia). Abdominal pain, diarrhea and diagnostic findings for Crohns, colitis, ulcerative colitis are noted early in childhood. Perianal fistulas and other abnormalities of the lower GI tract due to the disease state are found. Failure to thrive and delayed growth are common. [98]

Lymphatic:
Not noted. [120] [98]

Joints bones muscles cartilage:
Some cases with joint pain, sacroiliiac pain and arthritis have been noted, but the typical presentation does not involve the joints. Growth delay, including short stature is often seen. [123].

Vasculitis:
Not noted. [120] [98]

Amyloidosis:
Not noted. [120] [98]

Abnormal labs:
CRP, ESR, platelets may be elevated during flares. Low hemoglobin, albumin, anemia are common. [123] Diagnosis requires endoscopy and colonoscopy, and other tests. Hematochezia (blood in the stool). [122]

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