Intestinal lymphangiectasia （IL） is a rare disease characterized by dilated lymphatic vessles in the intestinal wall and small bowel mesentery which induce loss of protein and lymphocytes into bowel lumen. Because i...Intestinal lymphangiectasia （IL） is a rare disease characterized by dilated lymphatic vessles in the intestinal wall and small bowel mesentery which induce loss of protein and lymphocytes into bowel lumen. Because it most often occurs in the intestine and cannot be detected by upper gastroendoscopy or colonoscopy, and the value of common image examinations such as X-ray and computerized tomography （CT） are limited, the diagnosis of IL is difficult, usually needing the help of surgery. Capsule endoscopy is useful in diagnosing intestinal diseases, such as IL. We here report a case of IL in a female patient who was admitted for the complaint of recurrent edema accompanied with diarrhea and abdominal pain over the last twenty years, and aggravated ten days ago. She was diagnosed by M2A capsule endoscopy as a primary IL and confirmed by surgical and pathological examination.展开更多
Intestinal lymphangiectasia in the adult may be characterized as a disorder with dilated intestinal lacteals causing loss of lymph into the lumen of the small intestine and resultant hypoproteinemia, hypogamma-globuli...Intestinal lymphangiectasia in the adult may be characterized as a disorder with dilated intestinal lacteals causing loss of lymph into the lumen of the small intestine and resultant hypoproteinemia, hypogamma-globulinemia, hypoalbuminemia and reduced number of circulating lymphocytes or lymphopenia. Most often, intestinal lymphangiectasia has been recorded in children, often in neonates, usually with other congenital abnormalities but initial def inition in adults including the elderly has become increasingly more common. Shared clinical features with the pediatric population such as bilateral lower limb edema, sometimes with lymphedema, pleural effusion and chylous ascites may occur but these reflect the severe end of the clinical spectrum. In some, diarrhea occurs with steatorrhea along with increased fecal loss of protein, reflected in increased fe- cal alpha-1-antitrypsin levels, while others may present with iron def iciency anemia, sometimes associated with occult small intestinal bleeding. Most lymphangiectasia in adults detected in recent years, however, appears to have few or no clinical features of malabsorption. Diagnosis remains dependent on endoscopic changes confirmed by small bowel biopsy showing histological evidence of intestinal lymphangiectasia. In some, video capsule endoscopy and enteroscopy have revealed moreextensive changes along the length of the small intes- tine. A critical diagnostic element in adults with lym- phangiectasia is the exclusion of entities (e.g. malignancies including lymphoma) that might lead to obstruction of the lymphatic system and "secondary" changes in the small bowel biopsy. In addition, occult infectious (e.g. Whipple's disease from Tropheryma whipplei) or in? am- matory disorders (e.g. Crohn's disease) may also present with profound changes in intestinal permeability and protein-losing enteropathy that also require exclusion. Conversely, rare B-cell type lymphomas have also been described even decades following initial diagnosis of intestinal lymphangiectasia. T展开更多
Primary intestinal lymphangiectasia(PIL)is a rare disorder characterized by dilated intestinal lymphatics and the development of protein-losing enteropathy.Patients with PIL develop hypoalbuminemia,hypocalcemia,lympho...Primary intestinal lymphangiectasia(PIL)is a rare disorder characterized by dilated intestinal lymphatics and the development of protein-losing enteropathy.Patients with PIL develop hypoalbuminemia,hypocalcemia,lymphopenia and hypogammaglobulinemia,and present with bilateral lower limb edema,fatigue,abdominal pain and diarrhea.Endoscopy reveals diffusely elongated,circumferential and polypoid mucosae covered with whitish enlarged villi,all of which indicate intestinal lymphangiectasia.Diagnosis is conf irmed by characteristic tissue pathology,which includes dilated intestinal lymphatics with diffusely swollen mucosa and enlarged villi.The prevalence of PIL has increased since the introduction of capsule endoscopy.The etiology and prevalence of PIL remain unknown.Some studies have reported that several genes and regulatory molecules for lymphangiogenesis are related to PIL.We report the case of a patient with PIL involving the entire small bowel that was confirmed by capsule endoscopy and double-balloon enteroscopy-guided tissue pathology who carried a deletion on chromosome 4q25.The relationship between this deletion on chromosome 4 and PIL remains to be investigated.展开更多
Primary idiopathic intestinal lymphangiectasia is an unusual disease featured by the presence of dilated lymphatic channels which are located in the mucosa, submucosa or subserosa leading to protein loosing enteropath...Primary idiopathic intestinal lymphangiectasia is an unusual disease featured by the presence of dilated lymphatic channels which are located in the mucosa, submucosa or subserosa leading to protein loosing enteropathy.Most often affected were children and generally diagnosed before third year of life but may be rarely seen in adults too. Bilateral pitting oedema of lower limb is the main clinical manifestation mimicking the systemic disease and posing a real diagnostic dilemma to the clinicians to differentiate it from other common systemic diseases like Congestive cardiac failure, Nephrotic Syndrome, Protein Energy Malnutrition, etc. Diagnosis can be made on capsule endoscopy which can localise the lesion but unable to take biopsy samples. Thus, recently double-balloon enteroscopy and biopsy in combination can be used as an effective diagnostic tool to hit the correct diagnosis. Patients respond dramatically to diet constituting low long chain triglycerides and high protein content with supplements of medium chain triglyceride. So early diagnosis is important to prevent untoward complications related to disease or treatment for the sake of accurate pathological diagnosis.展开更多
We report a case of a 42-year-old man with a rare disorder known as primary intestinal lymphangiectasia,which is characterized by dilated intestinal lymphatics that lead to the development of protein-losing enteropath...We report a case of a 42-year-old man with a rare disorder known as primary intestinal lymphangiectasia,which is characterized by dilated intestinal lymphatics that lead to the development of protein-losing enteropathy. The patient presented with a grand mal seizure caused by malabsorption-derived electrolytes and a protein disorder. Signs of the disease, including chronic diarrhea and peripheral edema, manifested10 years ago, but a diagnosis was never made. The diagnosis was suspected because of the clinical manifestations, laboratory tests, imaging and endoscopic findings. Hyperemic and edematous mucosa of the small intestine corresponded to scattered white spots with dilated intestinal lymphatics and whitish villi in the histological specimen of the biopsied jejunal mucosa.Although numerous therapeutic strategies are available,only octreotide therapy proved to be an effective means of therapeutic resolution in this patient. Although the patient had a partial remission following the use of a slow release formula of octreotide, his prognosis, clinical course, and future treatment challenges are yet to be determined.展开更多
A number of disorders have been described to cause protein losing enteropathy (PLE) in children. Primary intestinal lymphangiectasia (PIL) is one mechanism leading to PLE. Few syndromes are associated with PIL; Hennek...A number of disorders have been described to cause protein losing enteropathy (PLE) in children. Primary intestinal lymphangiectasia (PIL) is one mechanism leading to PLE. Few syndromes are associated with PIL; Hennekam syndrome (HS) is one of them. The principal treatment for PIL is a high protein, low fat diet with medium chain triglycerides supplementation. Supportive therapy includes albumin infusion. Few publications have supported the use of octreotide to diminish protein loss and minimize hypoalbuminemia seen in PIL. There are no publications on the treatment of PIL with octreotide in patients with HS. We report two children with HS and PLE in which we used octreotide to decrease intestinal protein loss. In one patient, octreotide increased serum albumin to an acceptable level without further need for albumin infusions. The other patient responded more dramatically with near normal serum albumin levels and cessation of albumin infusions. In achieving a good response to octreotide in both patients, we add to the publications supporting the use of octreotide in PIL and suggest that octreotide should be tried in patients with PIL secondary to HS. To the best of our knowledge, this is the first case report on the use of octreotide in HS-associated PIL.展开更多
BACKGROUND Primary intestinal lymphangiectasia(PIL),first described in 1961,is a rare disorder of unknown etiology resulting in protein-losing enteropathy.The disease is characterized by dilatation and leakage of inte...BACKGROUND Primary intestinal lymphangiectasia(PIL),first described in 1961,is a rare disorder of unknown etiology resulting in protein-losing enteropathy.The disease is characterized by dilatation and leakage of intestinal lymph vessels leading to hypoalbuminemia,hypogammaglobulinemia,and lymphopenia.Since the severity and location of lymph vessels being affected can vary considerably,the range of associated symptoms is wide from mild lower-limb edema to generalized edema,abdominal and/or pleural effusion,and recurrent diarrhea,among others.Although usually developing in early childhood,we present the case of a 34-yearold woman with PIL.Moreover,we performed a literature review systematically assessing clinical presentation,and provide a practical approach to facilitate diagnosis and therapy of PIL in adults.CASE SUMMARY Our patient presented with unspecific symptoms of abdominal discomfort,fatigue,nausea,and recurrent edema of the lower limbs.Interestingly,a striking collinearity of clinical symptoms with female hormone status was evident.Additionally,polyglobulia,hypoalbuminemia,hypogammaglobulinemia,and transient lymphocytopenia were evident.Due to suspicion of a bone marrow disease,an extensive diagnostic investigation was carried out excluding secondary causes of polyglobulinemia and hypoalbuminemia.The diagnosis of primary intestinal lymphangiectasia was established after 22 wk by histological analysis of biopsy samples obtained via enteroscopy.Consecutively,the patient was put on a high-protein and low-fat diet with medium-chain triglycerides supplementation leading to significant improvement of clinical symptoms until 2 years of follow-up.CONCLUSION PIL can be the reason for cryptogenic hypoalbuminemia,hypogammaglobulinemia,and lymphopenia in adulthood.Due to difficulty in correct diagnosis,treatment initiation is often delayed despite being effective and welltolerated.This leads to a significant disease burden in affected patients.PIL is increasingly been recognized in adults since the majority of case 展开更多
BACKGROUND While primary intestinal lymphangiectasia(PIL)is considered a rare condition,there have been several reported cases in adults.Nevertheless,the absence of clear guidance from diagnosis to treatment and progn...BACKGROUND While primary intestinal lymphangiectasia(PIL)is considered a rare condition,there have been several reported cases in adults.Nevertheless,the absence of clear guidance from diagnosis to treatment and prognosis poses challenges for both physicians and patients.AIM To enhance understanding by investigating clinical presentation,diagnosis,treatment,complications,and prognoses in adult PIL cases.METHODS We enrolled adult patients diagnosed with PIL between March 2016 and September 2021.The primary outcome involved examining the diagnosis and treatment process of these patients.The secondary outcomes included identifying complications(infections,thromboembolism)and assessing prognoses(frequency of hospitalization and mortality)during the follow-up period.RESULTS Among the 12 included patients,peripheral edema(100%)and diarrhea(75%)were the main presenting complaints.Laboratory tests showed that all the pati-ents exhibited symptoms of hypoalbuminemia and hypogammaglobulinemia.Radiologically,the predominant findings were edema of the small intestine(67%)and ascites(58%).The typical endoscopic finding with a snowflake appearance was observed in 75%of patients.Among the 12 patients,two responded positive-ly to octreotide and sirolimus,and eight who could undergo maintenance therapy discontinued subsequently.Complications due to PIL led to infection in half of the patients,thromboembolism in three patients,and one death.CONCLUSION PIL can be diagnosed in adults across various age groups,with different severity and treatment responses among patients,leading to diverse complications and prognoses.Consequently,tailored treatments will be necessary.We anticipate that our findings will contribute to the management of PIL,an etiology of protein-losing enteropathy.展开更多
Intestinal lymphangiectasia(IL)is characterized by the dilation of intestinal lymphatic vessels,which can rupture and cause loss of lymph into the intestine.Due to the high content of proteins,lipoproteins,and lymphoc...Intestinal lymphangiectasia(IL)is characterized by the dilation of intestinal lymphatic vessels,which can rupture and cause loss of lymph into the intestine.Due to the high content of proteins,lipoproteins,and lymphocytes in the intestinal lymph,loss of lymph might result in hypoproteinemia,hypoalbuminemia,hypogammaglobulinemia,and lymphocytopenia.In addition,there may be a depletion of minerals,lipids,and fat-soluble vitamins.IL can be primary due to inherent malfunctioning of the lymphatic system,or secondly,a result of various factors that may hinder lymphatic drainage either directly or indirectly.This condition has emerged as a subject of significant clinical interest.Given that the intestinal lymphatic system plays an important role in the body’s fluid homeostasis,adaptive immunity,nutrient and drug absorption,intestinal transport,and systemic metabolism,its dysfunction may have wider implications.Although primary IL is rare,with varied clinical features,complications,treatment response,and outcomes,secondary IL is more common than previously believed.The definitive diagnosis of IL requires endoscopic demonstration of whitish villi(which frequently resemble snowflakes)and histological confirmation of dilated lacteals in the small intestinal mucosa.Treatment of IL is challenging and involves dietary modifications,managing underlying medical conditions,and using medications such as sirolimus and octreotide.Recognizing its prevalence and diverse etiology is crucial for targeted management of this challenging medical condition.This article provides a comprehensive exploration of the clinical implications associated with IL.In addition,it offers valuable insights into critical knowledge gaps in the existing diagnostic and management landscape.展开更多
In this case report it describes a novel technique using indocyanine green gel for the surgical excision of conjunctival lymphangiectasia(CL).CL was found on the nasal side of left eye in a 50-year-old male.Surgical e...In this case report it describes a novel technique using indocyanine green gel for the surgical excision of conjunctival lymphangiectasia(CL).CL was found on the nasal side of left eye in a 50-year-old male.Surgical excision of the entire cystic lesion with an intact cyst wall was completed with the assistance of an indocyanine green(ICG)gel.No sutures were used throughout the entire procedure.Subsequent post operative follow-up was uneventful.Herein,we report a novel technique used to facilitate the identification and complete removal of an intraocular cystic lesion ensuring an intact cyst wall.展开更多
Primary Intestinal lymphangiectasia （PIL） is a common cause of protein losing enteropathy （PLE）. It will affect enter-hepatic circulation of lipid-soluble vitamin, and absorption of electrolytes, cause malnutritio...Primary Intestinal lymphangiectasia （PIL） is a common cause of protein losing enteropathy （PLE）. It will affect enter-hepatic circulation of lipid-soluble vitamin, and absorption of electrolytes, cause malnutrition related osteomalacia or osteoporosis. While seldom health care workers noted to assess and treat osteomalacia or osteoporosis in PIL. Here we report a related case. We found increased parathyroid hormone, decreased 25（OH）D3, low bone mineral density, which indicated that the PIL patient had osteomalacia and/or osteoporosis. Adequate calcium and vitamin D supply can relieve the condition efficaciously. We should pay attention to osteomalacia and osteoporosis in PIL patients.展开更多
BACKGROUND Congenital lymphangiectasia is a rare disease characterized by dilated interstitial lymphatic vessels and cystic expansion of the lymphatic vessels.Congenital lymphangiectasia can affect various organ syste...BACKGROUND Congenital lymphangiectasia is a rare disease characterized by dilated interstitial lymphatic vessels and cystic expansion of the lymphatic vessels.Congenital lymphangiectasia can affect various organ systems;however,it frequently occurs in the lungs accompanied with unexplained pleural effusion.Further,it might not be diagnosed during prenatal examination owing to the absence of pronounced abnormalities.However,after birth the newborn rapidly develops respiratory distress that quickly deteriorates.Genetic variations in proteins controlling the development of lymphatic vessels contribute to the pathophysiology of this disease.We report a rare case of heterozygous mutation of ADAMTS3 and FLT4 genes,which have not been reported previously.CASE SUMMARY We analysed the case of a neonate who had presented with only pleural effusion at a late gestational age and eventually died due to its inability to establish spontaneous breathing after birth.An autopsy revealed lymphangiectasia of the organ systems.Further,whole exome sequencing revealed heterozygous mutations of the lymphangiogenesis-controlling genes,ADAMTS3 and FLT4,and Sanger verification revealed similar lesions in the mother with no symptoms.CONCLUSION Considering the presented case,obstetricians should observe unexplained foetal pleural effusion,and perform pathology analysis and whole exome sequencing for a conclusive diagnosis and prompt treatment.展开更多
Intestinal lymphangiectasia is a rare disease characterized by focal or diffuse dilated enteric lymphatics with impaired lymph drainage.It causes protein-losing enteropathy and may lead to gastrointestinal bleeding.Co...Intestinal lymphangiectasia is a rare disease characterized by focal or diffuse dilated enteric lymphatics with impaired lymph drainage.It causes protein-losing enteropathy and may lead to gastrointestinal bleeding.Commonly,lymphangiectasia presents as whitish spots or specks.To our knowledge,small bowel bleeding resulting from polypoid intestinal lymphangiectasia has not been reported.Here,we report a rare case of active bleeding from the small bowel caused by polypoid lymphangiectasia with a review of the relevant literature.An 80-year-old woman was hospitalized for melena.Esophagogastroduodenoscopy could not identify the source of bleeding.Subsequent colonoscopy showed fresh bloody material gushing from the small bowel.An abdominal-pelvic contrast-enhanced computed tomography scan did not reveal any abnormal findings.Video capsule endoscopy showed evidence of active and recent bleeding in the ileum.To localize the bleeding site,we performed double balloon enteroscopy by the anal approach.A small,bleeding,polypoid lesion was found in the distal ileum and was successfully removed using endoscopic snare electrocautery.展开更多
A 32-year-old female presented with 5-year history of iron deficiency anemia, marked pallor and edema of both lower limbs. Laboratory investigations including complete blood count, blood film, iron studies, lipid prof...A 32-year-old female presented with 5-year history of iron deficiency anemia, marked pallor and edema of both lower limbs. Laboratory investigations including complete blood count, blood film, iron studies, lipid profile, ascitic fluid analysis, test of stool for occult blood and alpha 1 anti-trypsin. Upper, lower gastrointestinal(GIT) endoscopies, and enteroscopy were performed. Imaging techniques as abdominal ultrasonography and computed tomography were done. Echocardiography, lymph node biopsy and bone marrow examination were normal. The case was diagnosed as Waldmann's disease with protein losing enteropathy and recurrent GIT bleeding. Management started with low fat diet with medium chain triglyceride, octreotide 200 μg twice a day, tranexamic acid and blood transfusion. Then, exploratory laparotomy with pathological examination of resected segment was done when recurrent GIT bleeding occurred and to excluded malignant transformation.展开更多
The relationship between primary intestinal lymphangiectasia(PIL) and liver fibrosis is an emerging topic with many obscure aspects due to the rarity of the disorder.A recent paper reported that a six-month lowfat die...The relationship between primary intestinal lymphangiectasia(PIL) and liver fibrosis is an emerging topic with many obscure aspects due to the rarity of the disorder.A recent paper reported that a six-month lowfat diet improved liver fibrosis.We report the case of a 17-year-old girl affected by PIL whose hepatic fibrosis progressively worsened within one year,despite dietetic support.This and the previous case report describe extraordinary events,which do not allow clear-cut clinical aspects to be established.Nevertheless,both cases suggest that in patients with PIL,it is necessary to closely monitor liver morphology with in-depth investigations including not only ultrasonography,but also elastography.展开更多
文摘Intestinal lymphangiectasia （IL） is a rare disease characterized by dilated lymphatic vessles in the intestinal wall and small bowel mesentery which induce loss of protein and lymphocytes into bowel lumen. Because it most often occurs in the intestine and cannot be detected by upper gastroendoscopy or colonoscopy, and the value of common image examinations such as X-ray and computerized tomography （CT） are limited, the diagnosis of IL is difficult, usually needing the help of surgery. Capsule endoscopy is useful in diagnosing intestinal diseases, such as IL. We here report a case of IL in a female patient who was admitted for the complaint of recurrent edema accompanied with diarrhea and abdominal pain over the last twenty years, and aggravated ten days ago. She was diagnosed by M2A capsule endoscopy as a primary IL and confirmed by surgical and pathological examination.
文摘Intestinal lymphangiectasia in the adult may be characterized as a disorder with dilated intestinal lacteals causing loss of lymph into the lumen of the small intestine and resultant hypoproteinemia, hypogamma-globulinemia, hypoalbuminemia and reduced number of circulating lymphocytes or lymphopenia. Most often, intestinal lymphangiectasia has been recorded in children, often in neonates, usually with other congenital abnormalities but initial def inition in adults including the elderly has become increasingly more common. Shared clinical features with the pediatric population such as bilateral lower limb edema, sometimes with lymphedema, pleural effusion and chylous ascites may occur but these reflect the severe end of the clinical spectrum. In some, diarrhea occurs with steatorrhea along with increased fecal loss of protein, reflected in increased fe- cal alpha-1-antitrypsin levels, while others may present with iron def iciency anemia, sometimes associated with occult small intestinal bleeding. Most lymphangiectasia in adults detected in recent years, however, appears to have few or no clinical features of malabsorption. Diagnosis remains dependent on endoscopic changes confirmed by small bowel biopsy showing histological evidence of intestinal lymphangiectasia. In some, video capsule endoscopy and enteroscopy have revealed moreextensive changes along the length of the small intes- tine. A critical diagnostic element in adults with lym- phangiectasia is the exclusion of entities (e.g. malignancies including lymphoma) that might lead to obstruction of the lymphatic system and "secondary" changes in the small bowel biopsy. In addition, occult infectious (e.g. Whipple's disease from Tropheryma whipplei) or in? am- matory disorders (e.g. Crohn's disease) may also present with profound changes in intestinal permeability and protein-losing enteropathy that also require exclusion. Conversely, rare B-cell type lymphomas have also been described even decades following initial diagnosis of intestinal lymphangiectasia. T
文摘Primary intestinal lymphangiectasia(PIL)is a rare disorder characterized by dilated intestinal lymphatics and the development of protein-losing enteropathy.Patients with PIL develop hypoalbuminemia,hypocalcemia,lymphopenia and hypogammaglobulinemia,and present with bilateral lower limb edema,fatigue,abdominal pain and diarrhea.Endoscopy reveals diffusely elongated,circumferential and polypoid mucosae covered with whitish enlarged villi,all of which indicate intestinal lymphangiectasia.Diagnosis is conf irmed by characteristic tissue pathology,which includes dilated intestinal lymphatics with diffusely swollen mucosa and enlarged villi.The prevalence of PIL has increased since the introduction of capsule endoscopy.The etiology and prevalence of PIL remain unknown.Some studies have reported that several genes and regulatory molecules for lymphangiogenesis are related to PIL.We report the case of a patient with PIL involving the entire small bowel that was confirmed by capsule endoscopy and double-balloon enteroscopy-guided tissue pathology who carried a deletion on chromosome 4q25.The relationship between this deletion on chromosome 4 and PIL remains to be investigated.
文摘Primary idiopathic intestinal lymphangiectasia is an unusual disease featured by the presence of dilated lymphatic channels which are located in the mucosa, submucosa or subserosa leading to protein loosing enteropathy.Most often affected were children and generally diagnosed before third year of life but may be rarely seen in adults too. Bilateral pitting oedema of lower limb is the main clinical manifestation mimicking the systemic disease and posing a real diagnostic dilemma to the clinicians to differentiate it from other common systemic diseases like Congestive cardiac failure, Nephrotic Syndrome, Protein Energy Malnutrition, etc. Diagnosis can be made on capsule endoscopy which can localise the lesion but unable to take biopsy samples. Thus, recently double-balloon enteroscopy and biopsy in combination can be used as an effective diagnostic tool to hit the correct diagnosis. Patients respond dramatically to diet constituting low long chain triglycerides and high protein content with supplements of medium chain triglyceride. So early diagnosis is important to prevent untoward complications related to disease or treatment for the sake of accurate pathological diagnosis.
文摘We report a case of a 42-year-old man with a rare disorder known as primary intestinal lymphangiectasia,which is characterized by dilated intestinal lymphatics that lead to the development of protein-losing enteropathy. The patient presented with a grand mal seizure caused by malabsorption-derived electrolytes and a protein disorder. Signs of the disease, including chronic diarrhea and peripheral edema, manifested10 years ago, but a diagnosis was never made. The diagnosis was suspected because of the clinical manifestations, laboratory tests, imaging and endoscopic findings. Hyperemic and edematous mucosa of the small intestine corresponded to scattered white spots with dilated intestinal lymphatics and whitish villi in the histological specimen of the biopsied jejunal mucosa.Although numerous therapeutic strategies are available,only octreotide therapy proved to be an effective means of therapeutic resolution in this patient. Although the patient had a partial remission following the use of a slow release formula of octreotide, his prognosis, clinical course, and future treatment challenges are yet to be determined.
文摘A number of disorders have been described to cause protein losing enteropathy (PLE) in children. Primary intestinal lymphangiectasia (PIL) is one mechanism leading to PLE. Few syndromes are associated with PIL; Hennekam syndrome (HS) is one of them. The principal treatment for PIL is a high protein, low fat diet with medium chain triglycerides supplementation. Supportive therapy includes albumin infusion. Few publications have supported the use of octreotide to diminish protein loss and minimize hypoalbuminemia seen in PIL. There are no publications on the treatment of PIL with octreotide in patients with HS. We report two children with HS and PLE in which we used octreotide to decrease intestinal protein loss. In one patient, octreotide increased serum albumin to an acceptable level without further need for albumin infusions. The other patient responded more dramatically with near normal serum albumin levels and cessation of albumin infusions. In achieving a good response to octreotide in both patients, we add to the publications supporting the use of octreotide in PIL and suggest that octreotide should be tried in patients with PIL secondary to HS. To the best of our knowledge, this is the first case report on the use of octreotide in HS-associated PIL.
文摘BACKGROUND Primary intestinal lymphangiectasia(PIL),first described in 1961,is a rare disorder of unknown etiology resulting in protein-losing enteropathy.The disease is characterized by dilatation and leakage of intestinal lymph vessels leading to hypoalbuminemia,hypogammaglobulinemia,and lymphopenia.Since the severity and location of lymph vessels being affected can vary considerably,the range of associated symptoms is wide from mild lower-limb edema to generalized edema,abdominal and/or pleural effusion,and recurrent diarrhea,among others.Although usually developing in early childhood,we present the case of a 34-yearold woman with PIL.Moreover,we performed a literature review systematically assessing clinical presentation,and provide a practical approach to facilitate diagnosis and therapy of PIL in adults.CASE SUMMARY Our patient presented with unspecific symptoms of abdominal discomfort,fatigue,nausea,and recurrent edema of the lower limbs.Interestingly,a striking collinearity of clinical symptoms with female hormone status was evident.Additionally,polyglobulia,hypoalbuminemia,hypogammaglobulinemia,and transient lymphocytopenia were evident.Due to suspicion of a bone marrow disease,an extensive diagnostic investigation was carried out excluding secondary causes of polyglobulinemia and hypoalbuminemia.The diagnosis of primary intestinal lymphangiectasia was established after 22 wk by histological analysis of biopsy samples obtained via enteroscopy.Consecutively,the patient was put on a high-protein and low-fat diet with medium-chain triglycerides supplementation leading to significant improvement of clinical symptoms until 2 years of follow-up.CONCLUSION PIL can be the reason for cryptogenic hypoalbuminemia,hypogammaglobulinemia,and lymphopenia in adulthood.Due to difficulty in correct diagnosis,treatment initiation is often delayed despite being effective and welltolerated.This leads to a significant disease burden in affected patients.PIL is increasingly been recognized in adults since the majority of case
文摘BACKGROUND While primary intestinal lymphangiectasia(PIL)is considered a rare condition,there have been several reported cases in adults.Nevertheless,the absence of clear guidance from diagnosis to treatment and prognosis poses challenges for both physicians and patients.AIM To enhance understanding by investigating clinical presentation,diagnosis,treatment,complications,and prognoses in adult PIL cases.METHODS We enrolled adult patients diagnosed with PIL between March 2016 and September 2021.The primary outcome involved examining the diagnosis and treatment process of these patients.The secondary outcomes included identifying complications(infections,thromboembolism)and assessing prognoses(frequency of hospitalization and mortality)during the follow-up period.RESULTS Among the 12 included patients,peripheral edema(100%)and diarrhea(75%)were the main presenting complaints.Laboratory tests showed that all the pati-ents exhibited symptoms of hypoalbuminemia and hypogammaglobulinemia.Radiologically,the predominant findings were edema of the small intestine(67%)and ascites(58%).The typical endoscopic finding with a snowflake appearance was observed in 75%of patients.Among the 12 patients,two responded positive-ly to octreotide and sirolimus,and eight who could undergo maintenance therapy discontinued subsequently.Complications due to PIL led to infection in half of the patients,thromboembolism in three patients,and one death.CONCLUSION PIL can be diagnosed in adults across various age groups,with different severity and treatment responses among patients,leading to diverse complications and prognoses.Consequently,tailored treatments will be necessary.We anticipate that our findings will contribute to the management of PIL,an etiology of protein-losing enteropathy.
文摘Intestinal lymphangiectasia(IL)is characterized by the dilation of intestinal lymphatic vessels,which can rupture and cause loss of lymph into the intestine.Due to the high content of proteins,lipoproteins,and lymphocytes in the intestinal lymph,loss of lymph might result in hypoproteinemia,hypoalbuminemia,hypogammaglobulinemia,and lymphocytopenia.In addition,there may be a depletion of minerals,lipids,and fat-soluble vitamins.IL can be primary due to inherent malfunctioning of the lymphatic system,or secondly,a result of various factors that may hinder lymphatic drainage either directly or indirectly.This condition has emerged as a subject of significant clinical interest.Given that the intestinal lymphatic system plays an important role in the body’s fluid homeostasis,adaptive immunity,nutrient and drug absorption,intestinal transport,and systemic metabolism,its dysfunction may have wider implications.Although primary IL is rare,with varied clinical features,complications,treatment response,and outcomes,secondary IL is more common than previously believed.The definitive diagnosis of IL requires endoscopic demonstration of whitish villi(which frequently resemble snowflakes)and histological confirmation of dilated lacteals in the small intestinal mucosa.Treatment of IL is challenging and involves dietary modifications,managing underlying medical conditions,and using medications such as sirolimus and octreotide.Recognizing its prevalence and diverse etiology is crucial for targeted management of this challenging medical condition.This article provides a comprehensive exploration of the clinical implications associated with IL.In addition,it offers valuable insights into critical knowledge gaps in the existing diagnostic and management landscape.
文摘In this case report it describes a novel technique using indocyanine green gel for the surgical excision of conjunctival lymphangiectasia(CL).CL was found on the nasal side of left eye in a 50-year-old male.Surgical excision of the entire cystic lesion with an intact cyst wall was completed with the assistance of an indocyanine green(ICG)gel.No sutures were used throughout the entire procedure.Subsequent post operative follow-up was uneventful.Herein,we report a novel technique used to facilitate the identification and complete removal of an intraocular cystic lesion ensuring an intact cyst wall.
文摘Primary Intestinal lymphangiectasia （PIL） is a common cause of protein losing enteropathy （PLE）. It will affect enter-hepatic circulation of lipid-soluble vitamin, and absorption of electrolytes, cause malnutrition related osteomalacia or osteoporosis. While seldom health care workers noted to assess and treat osteomalacia or osteoporosis in PIL. Here we report a related case. We found increased parathyroid hormone, decreased 25（OH）D3, low bone mineral density, which indicated that the PIL patient had osteomalacia and/or osteoporosis. Adequate calcium and vitamin D supply can relieve the condition efficaciously. We should pay attention to osteomalacia and osteoporosis in PIL patients.
基金The Wu Jieping Medical Foundation Clinical Research Special Grant Fund in China,No.320.6750.2022-15-9.
文摘BACKGROUND Congenital lymphangiectasia is a rare disease characterized by dilated interstitial lymphatic vessels and cystic expansion of the lymphatic vessels.Congenital lymphangiectasia can affect various organ systems;however,it frequently occurs in the lungs accompanied with unexplained pleural effusion.Further,it might not be diagnosed during prenatal examination owing to the absence of pronounced abnormalities.However,after birth the newborn rapidly develops respiratory distress that quickly deteriorates.Genetic variations in proteins controlling the development of lymphatic vessels contribute to the pathophysiology of this disease.We report a rare case of heterozygous mutation of ADAMTS3 and FLT4 genes,which have not been reported previously.CASE SUMMARY We analysed the case of a neonate who had presented with only pleural effusion at a late gestational age and eventually died due to its inability to establish spontaneous breathing after birth.An autopsy revealed lymphangiectasia of the organ systems.Further,whole exome sequencing revealed heterozygous mutations of the lymphangiogenesis-controlling genes,ADAMTS3 and FLT4,and Sanger verification revealed similar lesions in the mother with no symptoms.CONCLUSION Considering the presented case,obstetricians should observe unexplained foetal pleural effusion,and perform pathology analysis and whole exome sequencing for a conclusive diagnosis and prompt treatment.
文摘Intestinal lymphangiectasia is a rare disease characterized by focal or diffuse dilated enteric lymphatics with impaired lymph drainage.It causes protein-losing enteropathy and may lead to gastrointestinal bleeding.Commonly,lymphangiectasia presents as whitish spots or specks.To our knowledge,small bowel bleeding resulting from polypoid intestinal lymphangiectasia has not been reported.Here,we report a rare case of active bleeding from the small bowel caused by polypoid lymphangiectasia with a review of the relevant literature.An 80-year-old woman was hospitalized for melena.Esophagogastroduodenoscopy could not identify the source of bleeding.Subsequent colonoscopy showed fresh bloody material gushing from the small bowel.An abdominal-pelvic contrast-enhanced computed tomography scan did not reveal any abnormal findings.Video capsule endoscopy showed evidence of active and recent bleeding in the ileum.To localize the bleeding site,we performed double balloon enteroscopy by the anal approach.A small,bleeding,polypoid lesion was found in the distal ileum and was successfully removed using endoscopic snare electrocautery.
基金Supported by Specialized Medical Hospital and Gastrointestinal Surgery Center,Mansoura University,Mansoura,Egypt
文摘A 32-year-old female presented with 5-year history of iron deficiency anemia, marked pallor and edema of both lower limbs. Laboratory investigations including complete blood count, blood film, iron studies, lipid profile, ascitic fluid analysis, test of stool for occult blood and alpha 1 anti-trypsin. Upper, lower gastrointestinal(GIT) endoscopies, and enteroscopy were performed. Imaging techniques as abdominal ultrasonography and computed tomography were done. Echocardiography, lymph node biopsy and bone marrow examination were normal. The case was diagnosed as Waldmann's disease with protein losing enteropathy and recurrent GIT bleeding. Management started with low fat diet with medium chain triglyceride, octreotide 200 μg twice a day, tranexamic acid and blood transfusion. Then, exploratory laparotomy with pathological examination of resected segment was done when recurrent GIT bleeding occurred and to excluded malignant transformation.
文摘The relationship between primary intestinal lymphangiectasia(PIL) and liver fibrosis is an emerging topic with many obscure aspects due to the rarity of the disorder.A recent paper reported that a six-month lowfat diet improved liver fibrosis.We report the case of a 17-year-old girl affected by PIL whose hepatic fibrosis progressively worsened within one year,despite dietetic support.This and the previous case report describe extraordinary events,which do not allow clear-cut clinical aspects to be established.Nevertheless,both cases suggest that in patients with PIL,it is necessary to closely monitor liver morphology with in-depth investigations including not only ultrasonography,but also elastography.
