Repeated peri-umbilical pain, don't think only of mesenteric lymphadenitis

Start with the case

Child: Female, 4 years and 2 months old, presents for "recurrent peri-umbilical pain for 4 months".

History: no precipitating abdominal pain before 4 months, predominantly periumbilical, about 3 times a week, severe pain at the time of the attack, and relief by rubbing or hot compresses. There was a transient fever during the course of the disease, with a peak of 38°C. No vomiting, diarrhea, no cough, no headache, no joint pain, rash.

Treatment: after many hospitals, multiple examinations of leukocytes and C-reactive protein were significantly elevated, color ultrasound showed that the mesenteric lymph nodes increased by about 20 * 10 mm, no fusion and abnormal blood flow signals were seen; many hospitals considered "mesenteric lymphadenitis". Azithromycin, amoxicillin clavulanate potassium, and cefoperazone were given anti-infective therapy, and the abdominal pain disappeared in a short period of time and was repeated several weeks later.

Laboratory tests: Fat Da's, Wai Fei's test, anti-"O", rheumatoid factor, calcerin, blood culture, 13C(-), hematuria stool routine; chest x-ray, cardiac ultrasound, hepatobiliary, pancreatic and spleen double kidney ultrasound, skull CT, dynamic EEG did not see obvious abnormalities.

Physical growth and development are lagging behind, and there is no intelligence or abnormal language development. No history of allergies.

Physical examination: height 94 cm, weight 13 kg, abdominal softness, mild tenderness around the umbilicus, no rebound pain and muscle tension, no difference in the body.

How to diagnose and what auxiliary tests need to be enriched

Diagnostic ideas are sorted out

Periumbilical pain is the main symptom in children, and each episode of white blood cells and CRP is significantly elevated. Symptoms improved after anti-infective therapy, but recurrent episodes continued. Although there are no abnormalities in other existing laboratory tests except for white blood cells and CRP, the disease has affected the growth and development of the child, and the diagnosis still needs to start with organic abdominal pain.

Differential diagnosis of organic abdominal pain

●Digestive disorders: chronic gastritis, chronic pancreatitis, peptic ulcer, gastrointestinal tuberculosis, inflammatory bowel disease [1,2], eosinophilic gastroenteritis [3], tumor occupancy. Blood amylase, lipase, tumor markers, tuberculin testing, gastrointestinal endoscopy, and CT of the abdomen can help differentiate.

●Immune disorders: systemic lupus erythematosus, antinuclear antibodies can be identified, abdominal purpura, color ultrasound may indicate "bagel"-like changes [4], Behcet's disease, which can cause multisystem involvement, pathological biopsy can differentiate [5,6].

●Urinary and gynecological diseases: no obvious abnormalities are seen in the urinalysis routine, and ct of the upper and lower abdomen is further improved to assist in diagnosis.

●Endocrine diseases: diabetic ketoacidosis, glycogen accumulation, blood glucose and blood gas analysis at the time of attack can be distinguished.

●Inflammatory diseases: insufficient haplodos of A20 (HA20), and related tests such as A20 protein and tumor necrosis factor α (TNF-α) should be improved.

Perfect inspection

Blood count: leukocytes 17.2 × 10^9/L, neutrophils 81%, lymphocytes 12%, hemoglobin 117 g/L, platelets 258 × 10^9/L, CRP 84 mg/L. Cytomegalovirus, Epstein-Barr virus examination, tuberculin test were negative, and no obvious abnormalities were found in blood urine amylase, lipase, blood gas analysis, blood glucose, ion determination, and tumor markers. Autoimmune antibodies such as ANA, ENA, and ANCA are negative. No significant abnormalities were seen on CT of the abdomen.

Gastroscopy suggests multiple aphthal ulcers in the antrum and duodenal bulbs, no significant abnormalities are seen in colonoscopy, and pathological biopsy suggests chronic inflammation of the duodenal mucosa. Endoscopic manifestations do not support eosinophilic gastroenteritis, inflammatory bowel disease, and Behcet's disease.

The final definitive diagnosis is familial Mediterranean fever

After the initial diagnosis of "duodenal ulcer" was diagnosed with acid inhibition to protect the mucous membranes and conventional anti-infective treatment, the child was treated again for abdominal pain half a month later. Abdominal pain in children is not related to eating, there is no difference between day and night, and the initial diagnosis is overturned.

Pursuing the medical history found that the child's father had abdominal pain in his childhood, which later relieved himself, and the cause is unknown. Consult the relevant literature, consider the possibility of self-inflammatory diseases, and after full communication with the family, improve the genetic testing, and the result is diagnosed with Mediterranean fever.

After the diagnosis, the child was given colchicine therapy 0.25 mg/day, and the abdominal pain disappeared after 4 days of taking the drug, and the outpatient follow-up was followed up after 1 month. During this period, there was no further abdominal pain, no fever, follow-up blood routine and CRP returned to normal, and then followed up for 1 year, and the child did not appear discomfort.

Is it the same as your diagnosis?

Let's take a look at the familial Mediterranean fever...

● What is familial Mediterranean fever

Familial mediterranean fever (FMF) is an autoimmune disease that is autosomal recessive and is an inflammatory disease caused by an inherent immune system modulation disorder that causes too many inflammatory factors or clearance disorders [7]. The most internationally studied single-gene autoinflammatronic diseases, such as FMF, tumor necrosis factor receptor-related periodic fever syndrome, and cryyogen-associated cyclic fever syndrome [8].

Familial Mediterranean fever is associated with mutations in the MEFV gene[9] and is an autosomal recessive disorder in which amyloidosis is a serious complication of FMF that affects the kidneys first and may lead to end-stage renal disease, as well as the gastrointestinal tract, liver, adrenal glands, lungs, spleen, and heart [10].

● Clinical manifestations of FMF

The clinical manifestations of Mediterranean fever in adults and children are slightly different, and foreign scholars [11] point out that the most common clinical symptoms of FMF in children are fever, abdominal pain, chest pain, arthritis, and family history of FMF, and the 5 clinical symptoms in this diagnostic criterion can be diagnosed when 2 of the above 5 items are met, and the sensitivity of this diagnostic criterion for the diagnosis of FMF in children is 86.5% and the specificity is 93.6%.

● How to confirm the diagnosis

Diseases that do not respond to conventional treatment need to take into account autoinflammatory diseases, and genetic testing can confirm the diagnosis.

● How to treat

Colchicine is the mainstay of the treatment of FMF [12] by controlling the inflammatory response of FMF and preventing acute onset and complications secondary to chronic inflammatory reactions.

According to the European Federation for the Prevention and Control of Rheumatism, the initial dose is recommended for children under 5 years of age< 0.5 mg/day; 0.5 to 1.0 mg/day for children aged 5 to 10 years, and 1.0 to 1.5 mg/day for children aged 10 years and adults > [13]. Those who are ineffective at the maximum tolerated dose of colchicine as prescribed are considered to be unresponsive or resistant and should be considered biological agents such as IL-1 antagonists or TNF-α inhibitors [14].

● Medication tips

The most common adverse effects of colchicine are diarrhea, abdominal discomfort, and nausea. It is recommended to start with a low dose and increase in small doses until an effective dose is reached. Colchicine [14,15] can cause liver and kidney damage, and biochemical indicators such as hepatic enzymes, creatinine, and urea nitrogen need to be checked regularly, as well as occasional myopathy and toxic epidermolytic reactions.

Curated: Sunny days

Title image source: Stand Cool Helo

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