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    "textoCompleto" => "<span class="elsevierStyleSections"><p id="par0005" class="elsevierStylePara elsevierViewall">Familial Mediterranean fever &#40;FMF&#41; is a disease characterized by sporadic&#44; serosal inflammation and unpredictable attacks of fever&#46; This condition is thought to be hereditary and autosomal recessive&#46; Patients often consult with fever&#44; joint pain and intermittent abdominal pain&#44; which progresses as an attack that does not last more than 3 days&#46;<a class="elsevierStyleCrossRef" href="#bib0025"><span class="elsevierStyleSup">1</span></a> We discuss a case&#44; rarely reported in the literature&#44; in which the presenting symptom was continuous abdominal pain&#46; An extensive study led to a diagnosis of FMF&#46;</p><p id="par0010" class="elsevierStylePara elsevierViewall">A 49-year-old man of Turkish origin came to our outpatient clinic with isolated&#44; persistent abdominal pain&#46; He had a 10-year history of abdominal pain in the form of continuous shooting pain in left upper quadrant&#46; The attacks of abdominal pain were not very severe&#44; but would last all day and&#44; over the past 5 years&#44; he had noted that the severity did not change upon eating or drinking&#46; The patient had undergone examination with all the advanced radiological techniques&#44; including exploratory laparoscopy focusing on possible sources of the abdominal pain&#44; but no diagnosis had been reached&#46;</p><p id="par0015" class="elsevierStylePara elsevierViewall">The patient&#39;s vital signs on admission included a body temperature of 36&#46;3<span class="elsevierStyleHsp" style=""></span>&#176;C&#44; pulse rate of 85<span class="elsevierStyleHsp" style=""></span>bpm&#44; blood pressure of 140&#47;90<span class="elsevierStyleHsp" style=""></span>mm Hg and respiratory rate of 13 breaths&#47;min&#46; There were no notable abdominal findings in the physical examination except tenderness on deep palpation in the left upper quadrant&#46; Tests performed to determine the etiology included complete blood count&#44; routine biochemistry&#44; markers of hepatitis&#44; urinalysis&#44; stool microscopy and culture&#44; thyroid function tests&#44; anti-extractable nuclear antigen antibody profile&#44; culture for <span class="elsevierStyleItalic">Salmonella</span> and <span class="elsevierStyleItalic">Brucella</span>&#44; and tumor markers&#44; and the results were normal or negative&#46; Erythrocyte sedimentation rate was 25<span class="elsevierStyleHsp" style=""></span>mm&#47;h &#40;normal range&#44; 0&#8211;20&#41; and C-reactive protein level was 9<span class="elsevierStyleHsp" style=""></span>mg&#47;L &#40;0&#46;2&#8211;5&#41;&#46; In radiological examinations using advanced techniques&#44; the findings in abdominal ultrasonography and computed tomography&#44; esophagogastroscopy and colonoscopy were normal&#46; Although the patient&#39;s clinical presentation was not suggestive of FMF&#44; genetic testing was carried out with this disorder in mind&#46; As a result&#44; a homozygous R202Q mutation was detected&#46; A Tru-cut biopsy taken from the rectum during the colonoscopy revealed AA amyloidosis&#46; The patient was diagnosed with FMF on the basis of abdominal pain&#44; the positive genetic test result and AA amyloidosis&#46; The patient was started on colchicine 3 times daily&#46; After 3 weeks of treatment&#44; the patient&#39;s abdominal pain had completely resolved&#46;</p><p id="par0020" class="elsevierStylePara elsevierViewall">In FMF&#44; patients often present with peritonitis&#44; pleurisy&#44; synovitis and skin lesions such as erysipelas&#46; However&#44; approximately 95&#37; of the patients complain of localized abdominal pain&#46; The pain&#44; local at first&#44; progresses to rigidity&#44; adynamic ileus and rebound tenderness&#44; and ultimately spreads to the whole abdomen&#46; The attacks often last up to 3 days&#46;<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">2</span></a> Familial Mediterranean fever is caused by a <span class="elsevierStyleItalic">MEFV</span> gene mutation&#44;<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">3</span></a> which often occurs in exon 2 or 10&#46; While the prevalent mutation &#40;47&#8211;94&#37;&#41; is M694V in exon 10&#44; previous genetic studies have shown that M680&#44; E148Q&#44; V726A&#44; A744S&#44; R202Q&#44; R761H and T267 are also frequent mutations&#46;<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">4</span></a> R202Q is a mutation that can be detected quite often in the Turkish population&#46; In studies carried out in Turkey&#44; it has been shown that heterozygous forms produce no symptoms and do not cause amyloidosis&#44; but homozygous forms are associated with the development of symptoms and progression to amyloidosis&#46;</p><p id="par0025" class="elsevierStylePara elsevierViewall">Our patient was admitted to the hospital with a 10-year history of persistent isolated left upper quadrant pain&#46; A homozygous R202Q mutation was detected in the genetic analysis and rectal biopsy revealed AA amyloidosis&#46; The patient responded well to treatment with colchicine&#46;</p><p id="par0030" class="elsevierStylePara elsevierViewall">Thus&#44; FMF should be considered in patients presenting with abdominal pain that is not characteristic of this disorder&#46;</p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Funding</span><p id="par0035" class="elsevierStylePara elsevierViewall">None&#46;</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Conflict of interest</span><p id="par0040" class="elsevierStylePara elsevierViewall">The authors declare that they have no conflict of interest&#46;</p></span></span>"
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Letter to the Editor
Case of familial mediterranean fever presenting with constant abdominal pain
Caso de fiebre mediterránea familiar con dolor abdominal constante
İhsan Ateşa,
Corresponding author
dr.ihsanates@hotmail.com

Corresponding author.
, Ömer Akcab, İskender Bülbülb, Nisbet Yilmaza
a Ankara Numune Training and Research Hospital, Department of Internal Medicine, Ankara, Turkey
b Ankara Numune Training and Research Hospital, Department of Family Medicine, Ankara, Turkey
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The attacks of abdominal pain were not very severe&#44; but would last all day and&#44; over the past 5 years&#44; he had noted that the severity did not change upon eating or drinking&#46; The patient had undergone examination with all the advanced radiological techniques&#44; including exploratory laparoscopy focusing on possible sources of the abdominal pain&#44; but no diagnosis had been reached&#46;</p><p id="par0015" class="elsevierStylePara elsevierViewall">The patient&#39;s vital signs on admission included a body temperature of 36&#46;3<span class="elsevierStyleHsp" style=""></span>&#176;C&#44; pulse rate of 85<span class="elsevierStyleHsp" style=""></span>bpm&#44; blood pressure of 140&#47;90<span class="elsevierStyleHsp" style=""></span>mm Hg and respiratory rate of 13 breaths&#47;min&#46; There were no notable abdominal findings in the physical examination except tenderness on deep palpation in the left upper quadrant&#46; Tests performed to determine the etiology included complete blood count&#44; routine biochemistry&#44; markers of hepatitis&#44; urinalysis&#44; stool microscopy and culture&#44; thyroid function tests&#44; anti-extractable nuclear antigen antibody profile&#44; culture for <span class="elsevierStyleItalic">Salmonella</span> and <span class="elsevierStyleItalic">Brucella</span>&#44; and tumor markers&#44; and the results were normal or negative&#46; Erythrocyte sedimentation rate was 25<span class="elsevierStyleHsp" style=""></span>mm&#47;h &#40;normal range&#44; 0&#8211;20&#41; and C-reactive protein level was 9<span class="elsevierStyleHsp" style=""></span>mg&#47;L &#40;0&#46;2&#8211;5&#41;&#46; In radiological examinations using advanced techniques&#44; the findings in abdominal ultrasonography and computed tomography&#44; esophagogastroscopy and colonoscopy were normal&#46; Although the patient&#39;s clinical presentation was not suggestive of FMF&#44; genetic testing was carried out with this disorder in mind&#46; As a result&#44; a homozygous R202Q mutation was detected&#46; A Tru-cut biopsy taken from the rectum during the colonoscopy revealed AA amyloidosis&#46; The patient was diagnosed with FMF on the basis of abdominal pain&#44; the positive genetic test result and AA amyloidosis&#46; The patient was started on colchicine 3 times daily&#46; After 3 weeks of treatment&#44; the patient&#39;s abdominal pain had completely resolved&#46;</p><p id="par0020" class="elsevierStylePara elsevierViewall">In FMF&#44; patients often present with peritonitis&#44; pleurisy&#44; synovitis and skin lesions such as erysipelas&#46; However&#44; approximately 95&#37; of the patients complain of localized abdominal pain&#46; The pain&#44; local at first&#44; progresses to rigidity&#44; adynamic ileus and rebound tenderness&#44; and ultimately spreads to the whole abdomen&#46; The attacks often last up to 3 days&#46;<a class="elsevierStyleCrossRef" href="#bib0030"><span class="elsevierStyleSup">2</span></a> Familial Mediterranean fever is caused by a <span class="elsevierStyleItalic">MEFV</span> gene mutation&#44;<a class="elsevierStyleCrossRef" href="#bib0035"><span class="elsevierStyleSup">3</span></a> which often occurs in exon 2 or 10&#46; While the prevalent mutation &#40;47&#8211;94&#37;&#41; is M694V in exon 10&#44; previous genetic studies have shown that M680&#44; E148Q&#44; V726A&#44; A744S&#44; R202Q&#44; R761H and T267 are also frequent mutations&#46;<a class="elsevierStyleCrossRef" href="#bib0040"><span class="elsevierStyleSup">4</span></a> R202Q is a mutation that can be detected quite often in the Turkish population&#46; In studies carried out in Turkey&#44; it has been shown that heterozygous forms produce no symptoms and do not cause amyloidosis&#44; but homozygous forms are associated with the development of symptoms and progression to amyloidosis&#46;</p><p id="par0025" class="elsevierStylePara elsevierViewall">Our patient was admitted to the hospital with a 10-year history of persistent isolated left upper quadrant pain&#46; A homozygous R202Q mutation was detected in the genetic analysis and rectal biopsy revealed AA amyloidosis&#46; The patient responded well to treatment with colchicine&#46;</p><p id="par0030" class="elsevierStylePara elsevierViewall">Thus&#44; FMF should be considered in patients presenting with abdominal pain that is not characteristic of this disorder&#46;</p><span id="sec0005" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0005">Funding</span><p id="par0035" class="elsevierStylePara elsevierViewall">None&#46;</p></span><span id="sec0010" class="elsevierStyleSection elsevierViewall"><span class="elsevierStyleSectionTitle" id="sect0010">Conflict of interest</span><p id="par0040" class="elsevierStylePara elsevierViewall">The authors declare that they have no conflict of interest&#46;</p></span></span>"
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ISSN: 21735743
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