A 17-year-old patient who came to our center for the first time ten years ago, when he was 7 years old, from another district hospital, for presenting a persistent alteration in liver function tests, of one year of duration.
His parents reported the existence of multiple intermittent diarrheal episodes since the age of six months, which had been labelled as compatible with irritable colon syndrome.
She reported no previous history of blood transfusions, episodes of acute hepatitis, jaundice or pruritus.
The physical examination was negative, and the patient presented a normal statoscopic development for his age.
Complete blood count was normal and PFH showed a mixed pattern of cytolysis + stasis < voiding cyst (n = 133 IU/n (n < 2,240) IU/L; ALT= 211 (n < 1,365 IU/L)
The determination of the various viral markers of hepatitis (above VA, BV, CV, CMV, EB, HS and VZ) as well as the Wilson anti-toxoplasma antibodies anti-ML1 deficiency and non-specific Agan1 antibody deficiency specific
Analytical studies showed, in addition to the aforementioned alteration of the FHP, the presence of low-titre ANAs (1/40); EMAs (+), these being anti-reticulin antibody titers (ANCA) normal (1/400).
For the study of diarrhea and the presence of positive serological markers of celiac disease, an intestinal biopsy with Watson-Crosby capsule was performed.
The histological study showed the presence of a marked duodenal villi, with hypertrophy of the crypts and basal portion, together with marked lymphocytic infiltrate in the submucosa, confirming the diagnosis of stage 3 EC and SCC.
A rectosigmoidoscopy showed the presence of edematous, friable mucosa, easily bleeding at contact with the endemic, with multiple erosions and superficial ulcerations.
Colon biopsies showed the presence of chronic inflammatory infiltrate of the submucosa, with presence of cryptic abscesses and epithelial erosions, being diagnosed with moderate ulcerative colitis.
A liver biopsy was performed, which showed the presence of a moderate inflammatory infiltrate portal and lobular, with intense portal-portal and periductular fibrosis, in the form of layers of primary ductus arteriosus and sclerosus.
To perform the topographic diagnosis and extension of this last entity, an ERCP was performed, which showed the presence of an intrahepatic biliary tree with poverty in canalicular branches and with "extrahepatic bile ducts" conserved alterations.
The patient was placed on a gluten-free diet (GDS) and treatment was initiated with ursodeoxycholic acid (900 mg/day) and 5-aminosalicylic acid (2 g/day), with asymptomatic improvement
After this time, she presented an episode of acute cholangitis, which was successfully treated with antibiotics at home and a sprout of ulcerative colitis that required hospitalization, as a result of the treatment.
Two years ago a gastroscopy was performed which was normal, with duodenal biopsies that were also normal, without signs of allergy or inflammation.
The patient is currently completely asymptomatic, performing a completely normal life, following biannual controls by our service.
FAMILY TREATMENT
One year after the index case was diagnosed, her younger sister, at 18 months of age, began to present diarrhea, abdominal pain and vomiting, along with loss of weight and growth retardation, so the classic celiac disease was diagnosed with celiac disease.
A gluten-free diet was initiated with good clinical and analytical response.
Six years later, at the age of 7.5 years, this patient had type I diabetes mellitus, difficult to control metabolism, requiring three daily doses of insulin to date.
With the findings of both brothers we proceeded to carry out the study of CD to their parents who were completely diagnosed, analytically presenting only a mild fertile and asymptomatic mother showing neither normal analitic diseases Marsh positive sentiment.
The results of the analytical, genetic and histological family study show that all family members are affected, being the four DQ2 (+), and the mother has a negative serology and in the duodenal biopsy shows no signs of submucosal inflammation Marsh level 2.
