Cause Of Protein-losing Enteropathy Research Articles

Pathophysiology, Diagnosis, and Management of Canine Intestinal Lymphangiectasia: A Comparative Review.

Simple SummaryCanine intestinal lymphangiectasia (IL) is a disorder characterized by dilation, obstruction, and/or dysfunction of the lymphatic vessels within the small intestine. Dogs with IL often suffer from diarrhea, weight loss, vomiting, and fluid accumulations secondary to protein loss from the intestine. This review compiles the current knowledge of the pathophysiology, diagnosis and management of disorders of the intestinal lymphatic vasculature in dogs and humans and aims to (1) improve understanding of these disorders and (2) identify areas where research is needed to improve outcomes for dogs with IL.Intestinal lymphangiectasia was first described in the dog over 50 years ago. Despite this, canine IL remains poorly understood and challenging to manage. Intestinal lymphangiectasia is characterized by variable intestinal lymphatic dilation, lymphatic obstruction, and/or lymphangitis, and is a common cause of protein-losing enteropathy in the dog. Breed predispositions are suggestive of a genetic cause, but IL can also occur as a secondary process. Similarly, both primary and secondary IL have been described in humans. Intestinal lymphangiectasia is definitively diagnosed via intestinal histopathology, but other diagnostic results can be suggestive of IL. Advanced imaging techniques are frequently utilized to aid in the diagnosis of IL in humans but have not been thoroughly investigated in the dog. Management strategies differ between humans and dogs. Dietary modification is the mainstay of therapy in humans with additional pharmacological therapies occasionally employed, and immunosuppressives are rarely used due to the lack of a recognized immune pathogenesis. In contrast, corticosteroid and immunosuppressive therapies are more commonly utilized in canine IL. This review aims toward a better understanding of canine IL with an emphasis on recent discoveries, comparative aspects, and necessary future investigations.

Protein-losing Enteropathy as a Complication and/or Differential Diagnosis of Common Variable Immunodeficiency.

As protein-losing enteropathy (PLE) can lead to hypogammaglobulinemia and lymphopenia, and since common variable immunodeficiency (CVID) is associated with digestive complications, we wondered if (1) PLE could occur during CVID and (2) specific features could help determine whether a patient with antibody deficiency has CVID, PLE, or both. Eligible patients were thus classified in 3 groups: CVID + PLE (n = 8), CVID-only (= 19), and PLE-only (n = 13). PLE was diagnosed using fecal clearance of α1-antitrypsin or 111In-labeled albumin. Immunoglobulin (Ig) A, G, and M, naive/memory B and T cell subsets were compared between each group. CVID + PLE patients had multiple causes of PLE: duodenal villous atrophy (5/8), nodular follicular hyperplasia (4/8), inflammatory bowel disease-like (4/8), portal hypertension (4/8), giardiasis (3/8), and pernicious anemia (1/8). Compared to the CVID-only group, CVID + PLE patients had similar serum Ig levels, B cell subset counts, but lower naive T cell proportion and IgG replacement efficiency index. Compared to the CVID-only group, PLE-only patients did not develop infections but had higher serum levels of IgG (p = 0.03), IgA (p < 0.0001), and switched memory B cells (p = 0.001); and decreased naive T cells (CD4+: p = 0.005; CD8+: p < 0.0001). Compared to the PLE-only group, CVID + PLE patients had higher infection rates (p = 0.0003), and lower serum Ig (especially IgA: p < 0.001) and switched memory B cells levels. In conclusion, PLE can occur during CVID and requires higher IgG replacement therapy dosage. PLE can also mimic CVID and is associated with milder immunological abnormalities, notably mildly decreased to normal serum IgA and switched memory B cell levels.

A finding that is not clear what will emerge when you see it: Hypoalbuminemia

Malnutrition can cause hypoalbuminemia. Gastrointestinal malignancies are among the causes of protein-losing enteropathy. Herein, we presented a case of protein-losing enteropathy due to gastrointestinal malignancy presenting with symptoms such as hypoalbuminemia and oedema in the hands and legs.

Primary intestinal lymphangiectasia: a rare disease as a cause of protein-losing enteropathy.

Primary intestinal lymphangiectasia is a rare disorder associated with protein-losing enteropathy. The main manifestations are those resulting from hypoalbuminemia. Diagnosis requires the typical endoscopic image of intestinal lymphangiectasia and increased 24-hour fecal alpha-1-antitrypsin clearance. Treatment is basically dietary.

The diagnostic value of capsule endoscopy in children with intestinal lymphangiectasia.

intestinal lymphangiectasia is an unusual cause of protein-losing enteropathy due to either congenital malformation or obstruction of the intestinal lymphatics. However, few reports have investigated the use of video capsule endoscopy in children with intestinal lymphangiectasia. This study was performed to evaluate the diagnostic value of video capsule endoscopy for pediatric intestinal lymphangiectasia. in this retrospective study, all patients who underwent video capsule endoscopy between January 2014 and July 2020 were included. Clinical information and video capsule endoscopy data were analyzed. twelve children were enrolled, 7 males and 5 females, with an age at disease onset of 4.5 (range: 3.2-9.3) years and a disease duration of 12.0 (range: 1.3-30.0) months. The most common symptoms were hypoproteinemia (10, 83.3 %), diarrhea (7, 58.3 %), edema (6, 50.0 %), and abdominal pain (3, 25.0 %). Eight patients had low lymphocyte counts, whereas 10 had reduced serum albumin levels (23.2 ± 5.8 g/L). Video capsule endoscopy revealed an overall white snowy appearance due to the presence of whitish, swollen villi in all patients. Regarding the macroscopic lesions of lymphangiectasia, 7 cases involved the entire small bowel from the duodenum to the ileocecal valve, while 5 cases involved part of the small bowel. All patients were treated with medium-chain triglyceride diets, and albumin infusions were administered to 10 patients; sirolimus treatment was administered to 3 patients. At the last follow-up, 5 patients still had hypoalbuminemia and one patient had died of intestinal lymphoma. video capsule endoscopy is useful for the diagnosis of intestinal lymphangiectasia and should be applied as a valuable and less invasive examination to confirm or establish a diagnosis.

Clinical Profile, Response to Therapy, and Outcome of Children with Primary Intestinal Lymphangiectasia

Objective: Intestinal lymphangiectasia (IL; primary or secondary) is an important cause of protein-losing enteropathy. We evaluated the clinicolaboratory profile, response to therapy, complications, and outcome of children with primary IL (PIL). Methods: Consecutive children (≤18 years) diagnosed with PIL (clinical setting, typical small bowel histopathology, and exclusion of secondary causes) from 2007 to 2017 were evaluated. Results: Twenty-eight children with PIL (16 boys, age at symptom onset-12 [1–192] months and at diagnosis 8 [1–18] years) were studied. Pedal edema (93%), chronic diarrhea (78.6%), and recurrent anasarca (64%) were the common presentations. Ascites, pleural, and pericardial effusion were seen in 64 (n-18; chylous-5, non-chylous-13), 18, and 18% cases, respectively. Hypoproteinemia, hypoalbuminemia, hypocalcemia, and lymphopenia were present in 82, 82, 75 and 39% cases, respectively. Duodenal biopsy established the diagnosis in 86% cases, while 14% required distal small bowel biopsies. Dietary therapy was given in all and 6 cases required additional therapy (octreotide-6, tranexamic acid-3, and total parenteral nutrition-1). Lymphedema (3/5 vs. 1/23), pleural effusion (4/5 vs. 1/23), and the need for additional therapy (4/5 vs. 2/23) were significantly more in patients with chylous ascites (n = 5) than those without chylous ascites (n = 23). Twenty-four cases in follow-up (39 [6–120] months) showed improvement; however, 8 required readmission (symptom recurrence-6 [25%], complication-2 [8.3%], Budd Chiari Syndrome-1, and abdominal B cell lymphoma-1). Conclusion: Presence of chylous ascites suggests severe disease in children with PIL. Majority of PIL children respond to dietary therapy; only 20% need additional therapy. Long-term follow-up is essential to monitor for symptoms relapse and complications.

CHAPLE syndrome uncovers the primary role of complement in a familial form of Waldmann's disease.

Primary intestinal lymphangiectasia (PIL) or Waldmann's disease was described in 1961 as an important cause of protein-losing enteropathy (PLE). PIL can be the sole finding in rare individuals or occur as part of a multisystemic genetic syndrome. Although genetic etiologies of many lymphatic dysplasia syndromes associated with PIL have been identified, the pathogenesis of isolated PIL (with no associated syndromic features) remains unknown. Familial cases and occurrence at birth suggest genetic etiologies in certain cases. Recently, CD55 deficiency with hyperactivation of complement, angiopathic thrombosis, and PLE (the CHAPLE syndrome) has been identified as a monogenic form of PIL. Surprisingly, loss of CD55, a key regulator of complement system leads to a predominantly gut condition. Similarly to other complement disorders, namely paroxysmal nocturnal and hemoglobinuria (PNH) and atypical hemolytic uremic syndrome (aHUS), CHAPLE disease involves pathogenic cross-activation of the coagulation system, predisposing individuals to severe thrombosis. The observation that complement system is overly active in CHAPLE disease introduced a novel concept into the management of PLE; anti-complement therapy. While CD55 deficiency constitutes a treatable subgroup in the larger pool of patients with isolated PIL, the etiology remains to be identified in the remaining patients with intact CD55.

Small Intestinal Lymphatic Hypoplasia in Three Dogs with Clinical Signs of Protein-losing Enteropathy

Intestinal lymphatic hypoplasia (ILH) is a rare but well-documented cause of protein-losing enteropathy (PLE) in human infants. To our knowledge, this condition has not been reported previously in veterinary medicine. Here we report the clinical and histopathological findings in three dogs that presented with clinical signs of PLE. The onset of PLE was early in an 18-month-old Great Pyrenees, while the other two dogs, a pug and a Tibetan terrier, had a later onset at 4 and 12 years of age, respectively. The presence of intestinal lymphatic and blood vessels was assessed by immunohistochemistry for human prospero homeobox 1 (prox-1), a lymphatic endothelial nuclear transcription factor and human von Willebrand factor (vWf), a marker of vascular endothelial cells, respectively. Small intestinal specimens taken from each dog showed severe mucosal oedema with a lack of prox-1 labelling of villous lacteals, dilated and tortuous vWf immunoreactive villous arterial and capillary blood vessels, and variable lamina propria mixed inflammatory cell infiltrates. Other histological features of ILH included club-shaped villi that were lined by low cuboidal epithelium or epithelial cells with cytoplasmic pallor and microvacuolar change, extrusion zone epithelial inversion and thin and inconspicuous villous longitudinal smooth muscles. While ILH is an uncommon diagnosis, it should be considered as a differential in dogs with clinical signs of PLE. The cause of canine ILH is unknown; however, a congenital abnormality with early or late onset of clinical signs is suspected. Diagnosis of ILH can be challenging; however, immunohistochemical labelling of lymphatic endothelial cells with prox-1 is essential for making this diagnosis.

Ménétrier's Disease as a Gastrointestinal Manifestation of Active Cytomegalovirus Infection in a 22-Month-Old Boy: A Case Report with a Review of the Literature of Korean Pediatric Cases.

Ménétrier’s disease (MD), which is characterized by hypertrophic gastric folds and foveolar cell hyperplasia, is the most common gastrointestinal (GI) cause of protein-losing enteropathy (PLE). The clinical course of MD in childhood differs from that in adults and has often been reported to be associated with cytomegalovirus (CMV) infection. We present a case of a previously healthy 22-month-old boy presenting with PLE, who was initially suspected to have an eosinophilic GI disorder. However, he was eventually confirmed, by detection of CMV DNA using polymerase chain reaction (PCR) with gastric tissue, to have MD associated with an active CMV infection. We suggest that endoscopic and pathological evaluation is necessary for the differential diagnosis of MD. In addition, CMV DNA detection using PCR analysis of biopsy tissue is recommended to confirm the etiologic agent of MD regardless of the patient’s age or immune status.

β遮断薬およびrenin–angiotensin–aldosterone系拮抗薬によってsteroid療法から離脱し得たFontan手術後タンパク漏出性腸症の2自験例

Fontan循環における肺循環へ血液を拍出する心室を欠く特殊性による中心静脈圧（CVP）の上昇，心拍出量低下はタンパク漏出性腸症（PLE）の発症要因と考えられている．我々は開窓部閉塞を契機にPLEを発症し，prednisolone（PSL）による寛解後，直ちに血行動態を評価し血管拡張療法を強化したところ，寛解を維持したままPSLを中止し得た2症例を経験したので報告する．2症例ともPLE寛解直後のカテーテル検査で心係数（CI）と右室駆出率（RVEF）の低下，体血管抵抗（SVR）と右室の拡張能を表すと考えられる右室拡張末期圧（RVEDP）/CIの上昇が認められた．右室拡張障害の改善を主目的としてβ遮断薬（BB），アンギオテンシン変換酵素阻害薬（ACEi），アンギオテンシンII受容体拮抗薬（ARB），spironolactone（SPL）の併用療法を強化したところ，PSL中止時にはSVR, RVEDP/CIは低下しCI, RVEFは改善していた．PLE発症には心拍出量低下への反応であるSVR上昇と，それによる体循環心室機能低下が関与するものと推測された．また，交感神経系抑制薬とrenin–angiotensin–aldosterone（RAA）系抑制薬の併用療法は，Fontan手術後に発症するPLE治療の一選択肢と考えられた．

Protein-Losing Enteropathy: An Uncommon Presentation of Celiac Disease

Introduction: Protein-losing enteropathy (PLE) is an abnormal loss of protein from the gastrointestinal tract resulting in hypoproteinemia, and is usually not a single disease, but an atypical manifestation of other diseases. The primary causes of PLE can be divided into 3 broad etiologies, including erosive mucosal disease, non-erosive, and disorders involving increased interstitial pressures. Celiac disease is a non-erosive gastrointestinal disorder associated with protein-losing enteropathy. Case Report: A 30-year-old white male with no significant past medical history presented with chronic diarrhea for 8 months and progressively worsening generalized swelling for 3 months. The diarrhea initially started while he was incarcerated, and was described as 7 episodes of loose watery, non-bloody stool per day. The diarrhea partially improved with fasting, and there was no abdominal pain. Physical examination was notable for bibasilar rales and significant pitting edema involving bilateral lower extremities, scrotum, anterior abdominal wall, and lower chest. Labs were significant for total protein of 4.3 g/dL, albumin of 1.0 g/dL, normal creatinine, and no proteinuria. On push enteroscopy, diffuse scalloping and fissures of the duodenum and proximal jejunum were visualized. Duodenal and jejunal biopsies showed marked villous blunting with increased intra-epithelial lymphocytes, an increase in lamina propria chronic inflammatory infiltrate, and hyperplasia of the Brunner glands compatible with celiac disease. Celiac serologies were also elevated, including antigliadin Ab IgA 105 U/mL, t-Transglutaminase IgA >100 U/mL, and endomysial Ab IgA positive. A diagnosis of celiac disease presenting as protein-losing enteropathy was made, and the patient was initiated on a gluten-free diet. Discussion: In a patient presenting with hypoproteinemia, protein-losing enteropathy should be suspected in the absence of proteinuria, liver disease, and malnutrition. Celiac disease should be considered as one of the underlying causes of PLE. The mechanism of protein loss in celiac disease is not well described; however, it is likely a combination of decreased absorptive surface area from villous atrophy, paracellular protein loss, and increased mucosal cell turn over. Treatment of PLE should be focused on targeting the underlying disease.

An exotic cause of exudative enteropathy.

Patient: Male, 50Final Diagnosis: Exudative enteropathySymptoms: Abdominal pain • diarrhea • fever • hyponatremia • lymphadenopathy • weight lossMedication: —Clinical Procedure: —Specialty: —Objective:Unusual clinical courseBackground:Protein-losing enteropathy is a rare cause of hypoproteinemia. Erosive and non-erosive gastrointestinal diseases as well as vascular disorders that result in increased central venous pressure or mesenteric lymphatic obstruction may result in protein loss via the gastrointestinal tract.Case Report:We present the case of a 50-year-old man with protein-losing enteropathy, who had profuse diarrhea, abdominal pain, lymphadenopathy, fever, and a weight loss of 10 kg in the preceding 2 months. Extensive work-up revealed infection with Giardia lamblia. We review clinical signs and symptoms, laboratory findings, and imaging studies, and discuss potential pitfalls in establishing the diagnosis.Conclusions:To the best of our knowledge, this represents one of the few published cases of intestinal giardiasis as a cause of protein-losing enteropathy in an immunocompetent adult. The diagnosis of lambliasis should be based on a combination of stool cultures and serum serology, and in cases of high clinical suspicion, an endoscopy and biopsy of the upper GI tract is recommended.

EFFECTS OF CORN OIL ADMINISTERED ORALLY ON CONSPICUITY OF ULTRASONOGRAPHIC SMALL INTESTINAL LESIONS IN DOGS WITH LYMPHANGIECTASIA

Lymphangiectasia is one of the causes of protein-losing enteropathy in dogs and characteristic ultrasonographic small intestinal lesions have been previously described. The purpose of this study was to determine whether corn oil administered orally (COAO) would result in increased conspicuity of these characteristic small intestinal ultrasonographic lesions in dogs with lymphangiectasia. Affected dogs were included if they underwent corn oil administered orally and had a surgical full-thickness intestinal biopsy diagnosis of lymphangiectasia. Control dogs had normal clinical examination and standard laboratory test findings. Ultrasound images of duodenum, jejunum, and ileum were obtained prior to and 30, 60, 90, and 120 min after corn oil administered orally for all dogs. Parameters recorded for each ultrasound study were intestinal wall thickness, mucosal echogenicity, and presence or absence of hyperechoic mucosal striations (HMS) and a parallel hyperechoic mucosal line (PHML). Nine affected and five controls dogs were included in the study. Seven of the nine dogs with lymphangiectasia had hyperechoic mucosal striations prior to corn oil administered orally. Jejunal hyperechoic mucosal striations were significantly associated with lymphangiectasia at multiple time points (P < 0.05) and were best identified in dogs with lymphangiectasia 60 or 90 min after corn oil administered orally. Increased mucosal echogenicity was observed in all dogs at multiple time points after corn oil administered orally. A parallel hyperechoic mucosal line was present in the jejunum in 4/5 healthy and 6/9 dogs with lymphangiectasia at one or more time points after corn oil administered orally. Findings indicated that corn oil administered orally improves conspicuity of characteristic ultrasonographic lesions in dogs with lymphangiectasia, however some of these lesions may also be present in healthy dogs that recently received a fatty meal.

Familial renal disease in soft‐coated wheaten terriers

To review what is known about the familial renal diseases in soft-coated wheaten terriers (SCWT), provide an update in developments in this field including the relationship with protein-losing nephropathy (PLN) and the potential association with protein-losing enteropathy (PLE). Information was derived from studies of dogs maintained in the North Carolina State University colony, information contained within an open registry of affected dogs, and data gathered from the general population of wheaten terriers at risk as well as studies performed on banked DNA samples from affected SCWT in the general population and normal geriatric dogs seen at the University of Pennsylvania (PennVet). A two-hit pathogenesis has been proposed in some types of human focal segmental glomerulosclerosis, specifically the subset of cases that are associated with a podocytopathy. At risk podocytes may be predisposed to injury by disease processes that would be reversible in other patients. Mutations were found in association with PLN in SCWT, indicating a podocytopathy that causes a change in glomerular permselectivity. This podocytopathy leads to the development of lesions resembling focal segmental glomerulosclerosis. There is also strong evidence supporting a high prevalence of food hypersensitivity reactions in SCWT, although it is unclear if these reactions have a primary or secondary role in the development of PLE. There are also suggestions of immunodysregulation in affected SCWT. PLN in SCWT is due to a podocytopathy. The cause of PLE has not been identified; however, it is possible that PLE develops from a functional-structural abnormality in the intestines and food allergies develop as secondary phenomena. It is also possible that inflammatory events that are the result of either immunodysregulation or food allergies might lead to the development of PLE. In either case, PLE most likely exacerbates PLN in affected SCWT.

A Case of Intestinal Lymphangiectasia, a Rare Cause of Protein Losing Enteropathy in a Non HIV Immunocompromised Patient

A 56 y/o Caucasian male with h/o psoriasis s/p etanercept 2 years ago was admitted with exertional sob and non-productive cough which got progressively worse for 2 weeks. Pertinent ROS including fever, night sweats, unintentional weight loss are negative. His social history is significant for 5 pack year smoking which he quit 18 years ago. Physical exam showed diminished breath sounds and dullness to percussion on the right side. He was found having right sided chylous pleural effusion. CT scan evaluation of the abdomen revealed marked thickening of the duodenum and proximal small bowel of which biopsy showed acute on chronic enteritis with focal granulomas positive for Mycobacterium Avium complex infection (MAC). He was found to be T cell deficient with CD4 count of 110 and the workup is negative for HIV and TB. He was started on Anti MAC therapy. Subsequently, he developed noninfectious diarrhea, further investigations revealed significant hypoalbunemia besides CT abdomen showing marked retroperitoneal and mesenteric adenopathy with diffuse infiltration surrounding the nodes. His hospital course was further complicated by recurrent pleural effusions, ascites and PJP pneumonia. Despite appropriate antibiotics and management including TPN with medium-chain triglyceride enriched low fat diet, patient's clinical condition deteriorated rapidly resulting in death. Pertinent Labs: wbc: 8.8; H&H: 9.8/29.3; platelets: 275; T. Bilirubin -0.3; AST: 44; ALT: 37; ALP: 202; Hepatits A, B&C are negative; Pleural fluid TG -190; HIV 1&2 NR Albumin 2.0; Total IgG 506. Discussion: Protein losing enteropathy (PLE) is defined as a condition in which excess protein loss into the gastrointestinal lumen, due to various causes, is severe enough to produce hypoproteinemia and hypoalbuminemia. Intestinal lymphangiectasia (IL) is a PLE caused by dilated lymphatic vessels in the intestinal wall due to obstruction of the lymphatics. It is usually seen in AIDS patients when they are infected with MAC involving the GI tract causing enteric protein loss. It was thought to be obstruction of the mesenteric and retroperitoneal lymphatics by MAC lymphadenitis resulting in PLE. Our patient is a non HIV immunocompromised presenting with Chylous effusion and PLE due to disseminated MAC Infection. It was presumed that he was infected during his prior treatment with etanercept for psoriasis and the etiology for his current immunosuppression remained elusive even after cessation of etanercept. Conclusion: This case adds impetus to the current literature for early recognition and management of intestinal lymphangiectasia, a rare cause of PLE in Non HIV immunocompromised patients.

Intestinal lymphangiectasia in a patient with infantile systemic hyalinosis syndrome: a rare cause of protein-losing enteropathy

Infantile systemic hyalinosis (ISH) is a rare autosomal recessive disease. Typically, ISH patients present with progressive painful joint contractures, intractable diarrhea, hyperpigmented skin lesions, and perianal fleshy nodules. We report a case of a 19-month-old male child with atypical ISH presentation. His main clinical finding was protein-losing enteropathy due to intestinal lymphangectasia. This report is intended to enhance awareness about the gastrointestinal tract presentation of ISH.

Malrotation of the Intestine and Chronic Volvulus as a Cause of Protein-Losing Enteropathy in Infancy

Protein-losing enteropathy in children is caused by intestinal metabolic, inflammatory, or infectious processes, or by lymphatic obstruction (intestinal lymphangiectasia). In this report, a 17-month-old child is presented with protein-losing enteropathy due to intestinal malrotation and chronic midgut volvulus causing lymphatic obstruction and spillage of lymph in the intestine and the peritoneum. This report should alert the pediatrician that intestinal malrotation should be added to the wide list of possible causes of protein-losing enteropathy in children.

Protein losing enteropathy secondary to a pulmonary artery stent

A 2-year-old patient with hypoplastic left heart syndrome presented 6 months following Fontan completion with protein-losing enteropathy (PLE). He had undergone stent implantation in the left pulmonary artery after the Norwood procedure, followed by redilation of the stent prior to Fontan completion. Combined bronchoscopic and catheterization studies during spontaneous breathing confirmed left bronchial stenosis behind the stent, and diastolic systemic ventricular pressure during expiration of 25 mm Hg. We postulate that the stent acts as a valve, against which the patient generates high expiratory pressures, which are reflected in the ventricular diastolic pressure. This may be the cause of PLE.

Familial Mediteranean fever with protein-losing enteropathy due to constrictive pericarditis

Constrictive pericarditis (CP) represents a rare cause of protein-losing enteropathy (PLE) resulting from intestinal lymphangiectasia (IL). In this report, we describe an 8-year-old Turkish boy with IL and PLE secondary to CP. The boy was introduced to our clinic due to bilateral pretibial edema and swelling of the eyelids caused by hypoproteinemia. Physical examination revealed a distended right jugular vein. Laboratory investigation revealed PLE with fecal concentration of alpha-1 antitripsin of 4.87 mg/g. Histopathologic examination of random biopsies obtained from the duodenum revealed markedly dilated lymphatics compatible with IL. Constrictive pericarditis was diagnosed by tagged cine cardiac magnetic resonance imaging. Pericardiectomy was performed for the patient. Genetic analysis was done and heterozygous mutation E148Q was detected as a disease-causing Mediterranean fever (MEFV) mutation. Colchicine was started after the operation. Six months after the initiation of regular colchicine therapy, echocardiography revealed disappearance of CP. This is the first reported case of PLE with a distended right jugular vein due to CP secondary to familial Mediterranean fever associated with E148Q heterozygosity in the MEFV gene.

Atypical Clinical and Diagnostic Features in Ménétrier's Disease in a Child

Ménétrier's disease is one of the rarest protein-losing gastropathies in childhood. It is characterized clinically by non-specific gastrointestinal symptoms and edema, biochemically by hypoalbuminemia, and pathologically by enlarged gastric folds. In adults, this disease can be devastating with significant morbidity and mortality. In childhood, it is a self-limiting, transient and benign illness. Its treatment is largely supportive with total parenteral nutrition (TPN) while oral intake is encouraged. Acute onset of vomiting in healthy school age children can be initially explained by acute viral gastroenteritis. However, persistent vomiting associated with hematemesis and severe abdominal pain should warrant further work-up. This case report illustrates a self-limiting and rare cause of protein-losing enteropathy called Ménétrier's disease that presented with several variant clinical features not typically described in association with this entity.