Worldwide, lymphedema can present as a significant health issue. Left untreated, it can have long-term medical and psychological consequences for patients. Cryotherapy is a new physical therapy modality used for many purposes including reduction of pain, inflammation, and edema. It is thought to decrease interstitial fluid volume through many mechanisms. Therefore, it is reasonable to think that cryotherapy might have a positive effect in treatment of lymphedema. The goal of this study was to investigate how local cryotherapy in combination with standard therapy affects patient outcomes. Forty post-mastectomy female patients aged 40-60 years old with lymphedema were referred to the outpatient clinics of the Faculty of Physical Therapy at South Valley University for medical treatment and follow-up by the vascular surgery department. Patients were randomly divided into two groups of equal size. Traditional physical therapy programs (manual lymphatic drainage, pneumatic compression, bandaging, breathing exercises, circulatory exercises, shoulder mobilizations, and ROM exercises) were combined with pulsed local cryotherapy three times per week for 12 weeks in Group (A). For 12 weeks, Group (B) received only traditional physical therapy three times per week. Patients were evaluated using circumferential measurement with tape at the wrist, below the elbow, and above the elbow level, as well as ultrasonography to assess skin thickness before the start of physical therapy, 6 weeks later, and at the end of the treatment (after 12 weeks). Results indicate that cryotherapy is an effective adjunct modality for the treatment of secondary lymphedema and should be added to physical therapy protocols for lymphedema rehabilitation.
{"title":"Addition of local cryotherapy for treatment of post-mastectomy lymphedema.","authors":"Z. M. Askary, M. Elshazly","doi":"10.2458/lymph.5269","DOIUrl":"https://doi.org/10.2458/lymph.5269","url":null,"abstract":"Worldwide, lymphedema can present as a significant health issue. Left untreated, it can have long-term medical and psychological consequences for patients. Cryotherapy is a new physical therapy modality used for many purposes including reduction of pain, inflammation, and edema. It is thought to decrease interstitial fluid volume through many mechanisms. Therefore, it is reasonable to think that cryotherapy might have a positive effect in treatment of lymphedema. The goal of this study was to investigate how local cryotherapy in combination with standard therapy affects patient outcomes. Forty post-mastectomy female patients aged 40-60 years old with lymphedema were referred to the outpatient clinics of the Faculty of Physical Therapy at South Valley University for medical treatment and follow-up by the vascular surgery department. Patients were randomly divided into two groups of equal size. Traditional physical therapy programs (manual lymphatic drainage, pneumatic compression, bandaging, breathing exercises, circulatory exercises, shoulder mobilizations, and ROM exercises) were combined with pulsed local cryotherapy three times per week for 12 weeks in Group (A). For 12 weeks, Group (B) received only traditional physical therapy three times per week. Patients were evaluated using circumferential measurement with tape at the wrist, below the elbow, and above the elbow level, as well as ultrasonography to assess skin thickness before the start of physical therapy, 6 weeks later, and at the end of the treatment (after 12 weeks). Results indicate that cryotherapy is an effective adjunct modality for the treatment of secondary lymphedema and should be added to physical therapy protocols for lymphedema rehabilitation.","PeriodicalId":51122,"journal":{"name":"Lymphology","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2022-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46460039","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Plastic bronchitis, more appropriately termed chyloptysis, is a rare and potentially fatal condition caused by chylous coating of the airways. These cast coating can dislodge and become an obstructive mass in the patient's airway, necessitating rapid intervention. PB is well described to occur following single ventricle physiology heart disease corrective procedures, particularly following Fontan procedures. It is less commonly seen in traumatic settings. We present the youngest known case of a traumatic injury induced plastic bronchitis. A 19-year-old man was involved in a motor vehicle accident with airbag deployment. The airbags struck him in the chest; however, the patient felt well at the time and did not seek medical attention. Several months later the patient began coughing up milky white masses identified as casts. He was initially diagnosed with asthma but did not respond to therapy. He ultimately was found to have evidence of thoracic duct injury. Options for therapy were discussed, including possible thoracic duct ligation. The patient opted to continue a lowfat diet and has remained cast free. This case highlights the importance of considering plastic bronchitis in patients with cast production and a history of trauma to the chest.
{"title":"Plastic bronchitis: A rare complication following a motor vehicle collision.","authors":"J. Lee, K. Stanley, M. C. Lowe","doi":"10.2458/lymph.5268","DOIUrl":"https://doi.org/10.2458/lymph.5268","url":null,"abstract":"Plastic bronchitis, more appropriately termed chyloptysis, is a rare and potentially fatal condition caused by chylous coating of the airways. These cast coating can dislodge and become an obstructive mass in the patient's airway, necessitating rapid intervention. PB is well described to occur following single ventricle physiology heart disease corrective procedures, particularly following Fontan procedures. It is less commonly seen in traumatic settings. We present the youngest known case of a traumatic injury induced plastic bronchitis. A 19-year-old man was involved in a motor vehicle accident with airbag deployment. The airbags struck him in the chest; however, the patient felt well at the time and did not seek medical attention. Several months later the patient began coughing up milky white masses identified as casts. He was initially diagnosed with asthma but did not respond to therapy. He ultimately was found to have evidence of thoracic duct injury. Options for therapy were discussed, including possible thoracic duct ligation. The patient opted to continue a lowfat diet and has remained cast free. This case highlights the importance of considering plastic bronchitis in patients with cast production and a history of trauma to the chest.","PeriodicalId":51122,"journal":{"name":"Lymphology","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2022-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45387092","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
O. Engin, E. Şahin, E. Saribay, B. Dilek, E. Akalın
Cellulitis is one of the most important troubling complications of breast cancer treatment. Therefore, elucidating the risk factors for cellulitis in patients that have undergone breast cancer treatment is crucial. This is a retrospective medical record study among 523 patients who had received breast cancer treatment and were referred to the Lymphedema Clinic. Data on age, height, weight, BMI (body mass index), education level, arm dominance, history of previous surgery, axillary lymph node dissection, radiotherapy, and chemotherapy were noted. The time between operation and onset of lymphedema, duration of lymphedema, history of cellulitis, and number of cellulitis attacks were recorded. Circumference measurements were taken at four points on the upper limb. Univariate analysis showed that longer duration of lymphedema, larger circumference of the unaffected arm and larger circumference of the arm with lymphedema were associated with higher risk of cellulitis (p=0.008, p=0.007, p< 0.001, respectively). The incidence of cellulitis was higher in patients with lymphedema than patients who had no lymphedema (p< 0.001). Moreover, the frequency of cellulitis was higher in patients with lower education level (p=0.015). It was deter-mined that patients with cellulitis needed more compression garments (p< 0.001) and multi-layered bandage therapy (p< 0.001) than those without. Regression analysis revealed that presence of lymphedema (p=0.036), duration of lymphedema (p=0.048), radiotherapy (p=0.01) and educational level (0.019) are significantly associated with developing upper extremity cellulitis. It is important to consider these risk factors for the prevention and management of cellulitis in patients who undergo treatment for breast cancer. Early detection and treatment of lymphedema also remains essential for these patients.
{"title":"Risk factors for developing upper limb cellulitis after breast cancer treatment.","authors":"O. Engin, E. Şahin, E. Saribay, B. Dilek, E. Akalın","doi":"10.2458/lymph.5270","DOIUrl":"https://doi.org/10.2458/lymph.5270","url":null,"abstract":"Cellulitis is one of the most important troubling complications of breast cancer treatment. Therefore, elucidating the risk factors for cellulitis in patients that have undergone breast cancer treatment is crucial. This is a retrospective medical record study among 523 patients who had received breast cancer treatment and were referred to the Lymphedema Clinic. Data on age, height, weight, BMI (body mass index), education level, arm dominance, history of previous surgery, axillary lymph node dissection, radiotherapy, and chemotherapy were noted. The time between operation and onset of lymphedema, duration of lymphedema, history of cellulitis, and number of cellulitis attacks were recorded. Circumference measurements were taken at four points on the upper limb. Univariate analysis showed that longer duration of lymphedema, larger circumference of the unaffected arm and larger circumference of the arm with lymphedema were associated with higher risk of cellulitis (p=0.008, p=0.007, p< 0.001, respectively). The incidence of cellulitis was higher in patients with lymphedema than patients who had no lymphedema (p< 0.001). Moreover, the frequency of cellulitis was higher in patients with lower education level (p=0.015). It was deter-mined that patients with cellulitis needed more compression garments (p< 0.001) and multi-layered bandage therapy (p< 0.001) than those without. Regression analysis revealed that presence of lymphedema (p=0.036), duration of lymphedema (p=0.048), radiotherapy (p=0.01) and educational level (0.019) are significantly associated with developing upper extremity cellulitis. It is important to consider these risk factors for the prevention and management of cellulitis in patients who undergo treatment for breast cancer. Early detection and treatment of lymphedema also remains essential for these patients.","PeriodicalId":51122,"journal":{"name":"Lymphology","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2022-09-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"44704503","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Milroy disease, known as primary congenital lymphedema, is characterized by chronic tissue swelling due to impaired lymphatic drainage and is inherited in an autosomal dominant manner. This study reports a rare case of Milroy disease affecting siblings from unaffected parents. A one-month-old female infant presented with swelling of the bilateral calf and the dorsum of the feet which had been present since birth. Her 14-month-old brother had a similar presentation since birth with swelling of the bilateral calf and the dorsum of the feet. Milroy disease was diagnosed based on the clinical findings of bilateral lower limb swelling and confirmed by molecular genetic testing. The patient and her family, including her brother, parents, and maternal grandfather, were genetically tested, and two novel missense mutations (NM_182925.4: c.2534T>C; p.Leu845Pro, c.4006G>A; p.Glu1336Lys) were found in the Fms-related tyrosine kinase (FLT4) gene. Mutations segregated by the parents who carried each mutation in the heterozygous state were identified in the patient and her brother. The present case report in which Milroy disease developed in all offspring of parents with a normal phenotype suggests the possibility of a compound heterozygous mutation or non-penetrance during the process of inheritance of Milroy disease.
Milroy病，被称为原发性先天性淋巴水肿，其特征是由于淋巴排水受损导致的慢性组织肿胀，并以常染色体显性方式遗传。本研究报告了一例罕见的米罗伊氏病，影响未受影响的父母的兄弟姐妹。一个月大的女婴表现为双侧小腿和足背肿胀，自出生以来一直存在。她14个月大的弟弟自出生以来也有类似的表现，双侧小腿和脚背肿胀。根据双侧下肢肿胀的临床表现诊断Milroy病，并通过分子基因检测确诊。对患者及其家人(包括其兄弟、父母和外祖父)进行了基因检测，发现两个新的错义突变(NM_182925.4: C . 2534t >C;p.Leu845Pro, c.4006G >;p.Glu1336Lys)在fms相关酪氨酸激酶(FLT4)基因中发现。在患者和她的兄弟身上发现了由携带杂合状态突变的父母分离的突变。本病例报告表明，在Milroy病的遗传过程中，可能存在复合杂合突变或非外显性。
{"title":"Compound heterozygosity for a variably penetrant variant and a variant of unknown significance in FLT4 causes fully penetrant Milroy's lymphedema.","authors":"J. Kim, S. Y. Lim","doi":"10.2458/lymph.5264","DOIUrl":"https://doi.org/10.2458/lymph.5264","url":null,"abstract":"Milroy disease, known as primary congenital lymphedema, is characterized by chronic tissue swelling due to impaired lymphatic drainage and is inherited in an autosomal dominant manner. This study reports a rare case of Milroy disease affecting siblings from unaffected parents. A one-month-old female infant presented with swelling of the bilateral calf and the dorsum of the feet which had been present since birth. Her 14-month-old brother had a similar presentation since birth with swelling of the bilateral calf and the dorsum of the feet. Milroy disease was diagnosed based on the clinical findings of bilateral lower limb swelling and confirmed by molecular genetic testing. The patient and her family, including her brother, parents, and maternal grandfather, were genetically tested, and two novel missense mutations (NM_182925.4: c.2534T>C; p.Leu845Pro, c.4006G>A; p.Glu1336Lys) were found in the Fms-related tyrosine kinase (FLT4) gene. Mutations segregated by the parents who carried each mutation in the heterozygous state were identified in the patient and her brother. The present case report in which Milroy disease developed in all offspring of parents with a normal phenotype suggests the possibility of a compound heterozygous mutation or non-penetrance during the process of inheritance of Milroy disease.","PeriodicalId":51122,"journal":{"name":"Lymphology","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2022-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45068032","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
E. Rannikko, Ida-Maria Leppäpuska, M. Laukka, A. Saarikko, P. Hartiala
Vascularized lymph node transfer surgery (VLNT) can provide benefit to lymphedema patients. Cytokines may play a role in the development of lymphedema and in the regeneration of lymphatic vessels after VLNT. Our primary aim was to investigate whether the VLNT patients have a specific cytokine profile. Our secondary aim was to see whether the preoperative lymphedema or severity affects the postoperative cytokine response. Wound exudate was gathered from 18 patients undergoing VLNT on the first and sixth postoperative day (POD). The concentrations of IL-10, TNF-α, TGF-β1 and VEGF-C were analyzed using enzymelinked immune-sorbent assays. A general score was generated to assess the benefit of the surgery. The changes in cytokine concentrations (1st POD-6th POD) were correlated with the pre- and postoperative lymphedema related factors. A shorter duration of lymphedema preoperatively correlated with an increase in the concentration of IL-10 and TNF-β during the first six PODs (IL-10: r=0.495, p=0.051; TNF-α: r=0.737, p=0.006) and a decrease in the concentration of TGF-ß1 (r= -0.613, p=0.020). The increase of the concentration of TNF-α during the first six PODs also correlated with a greater total general score (r=0.775, p=0.005) and hence indicated a better response to the surgery. The patients with a shorter duration of lymphedema preoperatively had a more favorable cytokine response during the first six PODs after VLNT.
{"title":"Short duration of upper extremity lymphedema correlates with a favorable cytokine response after lymph node transfer surgery.","authors":"E. Rannikko, Ida-Maria Leppäpuska, M. Laukka, A. Saarikko, P. Hartiala","doi":"10.2458/lymph.5266","DOIUrl":"https://doi.org/10.2458/lymph.5266","url":null,"abstract":"Vascularized lymph node transfer surgery (VLNT) can provide benefit to lymphedema patients. Cytokines may play a role in the development of lymphedema and in the regeneration of lymphatic vessels after VLNT. Our primary aim was to investigate whether the VLNT patients have a specific cytokine profile. Our secondary aim was to see whether the preoperative lymphedema or severity affects the postoperative cytokine response. Wound exudate was gathered from 18 patients undergoing VLNT on the first and sixth postoperative day (POD). The concentrations of IL-10, TNF-α, TGF-β1 and VEGF-C were analyzed using enzymelinked immune-sorbent assays. A general score was generated to assess the benefit of the surgery. The changes in cytokine concentrations (1st POD-6th POD) were correlated with the pre- and postoperative lymphedema related factors. A shorter duration of lymphedema preoperatively correlated with an increase in the concentration of IL-10 and TNF-β during the first six PODs (IL-10: r=0.495, p=0.051; TNF-α: r=0.737, p=0.006) and a decrease in the concentration of TGF-ß1 (r= -0.613, p=0.020). The increase of the concentration of TNF-α during the first six PODs also correlated with a greater total general score (r=0.775, p=0.005) and hence indicated a better response to the surgery. The patients with a shorter duration of lymphedema preoperatively had a more favorable cytokine response during the first six PODs after VLNT.","PeriodicalId":51122,"journal":{"name":"Lymphology","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2022-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45427540","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
A. Apolinário, E. L. Kohl Lima, G. Borsari, M. Rezende, F. B. Rangon, D. M. Rossi, E. C. de Oliveira Guirro
Functional compressive bandaging (FCB) is a therapeutic resource used to control lymphedema resulting from the treatment of breast cancer. However, the reliability of the technique is unknown. We evaluated intra- and inter-rater reliability of the spiral technique in the four-layer FCB of the arm and forearm in breast cancer survivors with lymphedema. Forty-five breast cancer survivors with a mean age of 64.88±10.01 years participated in the study. Evaluations were performed by two examiners at different times analyzing the pressure exerted (mmHg) by the spiral FCB in the arm and forearm of the upper limb affected by lymphedema. The intraclass correlation coefficient (ICC2,1) was used to determine intraand inter-examiner reliability, with a 95% confidence interval, minimum detectable change, and standard error of the measurement. Intrarater reliability was considered low to high in the arm and forearm region. Inter-rater reliability in the arm region was considered low and in the forearm region low to moderate. Our results indicate that spiral FCB has low to moderate intra-examiner and inter-examiner reliability.
{"title":"Reliability of functional compressive bandaging in the treatment of lymphedema secondary to the treatment of breast cancer.","authors":"A. Apolinário, E. L. Kohl Lima, G. Borsari, M. Rezende, F. B. Rangon, D. M. Rossi, E. C. de Oliveira Guirro","doi":"10.2458/lymph.5265","DOIUrl":"https://doi.org/10.2458/lymph.5265","url":null,"abstract":"Functional compressive bandaging (FCB) is a therapeutic resource used to control lymphedema resulting from the treatment of breast cancer. However, the reliability of the technique is unknown. We evaluated intra- and inter-rater reliability of the spiral technique in the four-layer FCB of the arm and forearm in breast cancer survivors with lymphedema. Forty-five breast cancer survivors with a mean age of 64.88±10.01 years participated in the study. Evaluations were performed by two examiners at different times analyzing the pressure exerted (mmHg) by the spiral FCB in the arm and forearm of the upper limb affected by lymphedema. The intraclass correlation coefficient (ICC2,1) was used to determine intraand inter-examiner reliability, with a 95% confidence interval, minimum detectable change, and standard error of the measurement. Intrarater reliability was considered low to high in the arm and forearm region. Inter-rater reliability in the arm region was considered low and in the forearm region low to moderate. Our results indicate that spiral FCB has low to moderate intra-examiner and inter-examiner reliability.","PeriodicalId":51122,"journal":{"name":"Lymphology","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2022-09-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"42452487","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Marlys H. Witte, R.P. Erickson, L. Luy, P. Brouillard, M. Vikkula
We have created a human chromosomal map of the location of known and candidate genes involved in primary lymphedema (PLE). This should facilitate further discovery and provide a basis for understanding microdeletions which cause lymphedema.
{"title":"Human chromosome map of lymphedema-lymphangiogenesis genes: Template for current and future discovery.","authors":"Marlys H. Witte, R.P. Erickson, L. Luy, P. Brouillard, M. Vikkula","doi":"10.2458/lymph.4837","DOIUrl":"https://doi.org/10.2458/lymph.4837","url":null,"abstract":"We have created a human chromosomal map of the location of known and candidate genes involved in primary lymphedema (PLE). This should facilitate further discovery and provide a basis for understanding microdeletions which cause lymphedema.","PeriodicalId":51122,"journal":{"name":"Lymphology","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2022-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45070678","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
I. Rana, P. Buonuomo, G. Mastrogiorgio, A. Del Fattore, A. Jenkner, D. Barbuti, R. de Vito, M. Pizzoferro, M. Callea, M. Crostelli, O. Mazza, R. Rotunno, A. Bartuli
Gorham-Stout Disease (GSD), also named vanishing bone disease, is an ultrarare condition characterized by progressive osteolysis with intraosseous lymphatic vessel proliferation and bone cortical loss. So far, about 300 cases have been reported. It may occur at any age but more commonly affects children and young adults. The aim of this study is to retrospectively review our internal patient series and to hypothesize a diagnostic-therapeutic protocol for earlier diagnosis and treatment. Clinical datasets from our center were examined to identify all GSD patients for collection and analysis. We identified 9 pediatric cases and performed a retrospective case-series review to examine and document both diagnosis and treatment. We found that delay in diagnosis after first symptoms played a critical role in determining morbidity and that multidisciplinary care is key for proper diagnosis and treatment. Our study provides additional insight to improve the critical challenge of early diagnosis and highlights a multidisciplinary treatment approach for the most appropriate management of patients with rare GSD disease. Although GSD is an ultrarare disease, physicians should keep in mind the main clinical features since neglected cases may result in potentially fatal complications.
{"title":"Expanding the spectrum of Gorham Stout disease exploring a single center pediatric case series.","authors":"I. Rana, P. Buonuomo, G. Mastrogiorgio, A. Del Fattore, A. Jenkner, D. Barbuti, R. de Vito, M. Pizzoferro, M. Callea, M. Crostelli, O. Mazza, R. Rotunno, A. Bartuli","doi":"10.2458/lymph.4839","DOIUrl":"https://doi.org/10.2458/lymph.4839","url":null,"abstract":"Gorham-Stout Disease (GSD), also named vanishing bone disease, is an ultrarare condition characterized by progressive osteolysis with intraosseous lymphatic vessel proliferation and bone cortical loss. So far, about 300 cases have been reported. It may occur at any age but more commonly affects children and young adults. The aim of this study is to retrospectively review our internal patient series and to hypothesize a diagnostic-therapeutic protocol for earlier diagnosis and treatment. Clinical datasets from our center were examined to identify all GSD patients for collection and analysis. We identified 9 pediatric cases and performed a retrospective case-series review to examine and document both diagnosis and treatment. We found that delay in diagnosis after first symptoms played a critical role in determining morbidity and that multidisciplinary care is key for proper diagnosis and treatment. Our study provides additional insight to improve the critical challenge of early diagnosis and highlights a multidisciplinary treatment approach for the most appropriate management of patients with rare GSD disease. Although GSD is an ultrarare disease, physicians should keep in mind the main clinical features since neglected cases may result in potentially fatal complications.","PeriodicalId":51122,"journal":{"name":"Lymphology","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2022-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43061766","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
I. Forner-Cordero, M. V. Perez-Pomares, A. Forner, A. B. Ponce-Garrido, J. Muñoz-Langa
Lipedema is a chronic disease seen frequently in women that causes abnormal fat deposition in the lower limbs and associated bruising and pain. Despite increasing knowledge concerning lipedema, there are still aspects of diagnosis that need further investigation. We performed a prospective, observational cohort study to describe prevalence of clinical characteristics present in patients with lipedema in an attempt to establish diagnostic criteria. Participants were consecutive patients with lipedema presenting at a public hospital in Spain from September 2012 to December 2019. Patients were examined for the following signs and symptoms of lipedema: symmetrical involvement; disproportion between the upper and lower part of the body; sparing of the feet; pain; bruising; Stemmer' sign; pitting test; fibrosis; venous insufficiency; upper limbs involvement; vascular spiders; skin coldness; and lymphangitis attacks. In addition, orthopedic alterations were examined in all patients. We recruited 138 patients (median age=47.6 years; mean BMI=29.9 Kg/m2). Using waist-to-height-ratio, 41.3% of the patients were slim or healthy. The most frequent type of lipedema was Type III (71%), and most were in stage 1 and 2. The features of lipedema with a prevalence >80% were symmetrical involvement, unaffected feet, pain, bruising, vascular spiders, and disproportion. Pain was nociceptive in 60.2% and neuropathic in 33.1%, and there was a reduced social or working activities in 37.9%. Orthopedic alterations including cavusfeet or valgus-knees were observed in 1/3 of the patients. X-ray of the knees was performed in 63 patients and knee osteoarthritis diagnosed in 37. We found that the most frequent manifestations of lipedema were bilateral involvement, unaffected feet, pain, easy bruising, vascular spiders, and disproportion between the upper and lower parts of the body. These should be considered as major criteria for diagnosis. In addition, our findings on the prevalence of orthopedic alterations in patients with lipedema highlights the need for a multidisciplinary and integrated approach.
{"title":"Prevalence of clinical manifestations and orthopedic alterations in patients with lipedema: A prospective cohort study.","authors":"I. Forner-Cordero, M. V. Perez-Pomares, A. Forner, A. B. Ponce-Garrido, J. Muñoz-Langa","doi":"10.2458/lymph.4838","DOIUrl":"https://doi.org/10.2458/lymph.4838","url":null,"abstract":"Lipedema is a chronic disease seen frequently in women that causes abnormal fat deposition in the lower limbs and associated bruising and pain. Despite increasing knowledge concerning lipedema, there are still aspects of diagnosis that need further investigation. We performed a prospective, observational cohort study to describe prevalence of clinical characteristics present in patients with lipedema in an attempt to establish diagnostic criteria. Participants were consecutive patients with lipedema presenting at a public hospital in Spain from September 2012 to December 2019. Patients were examined for the following signs and symptoms of lipedema: symmetrical involvement; disproportion between the upper and lower part of the body; sparing of the feet; pain; bruising; Stemmer' sign; pitting test; fibrosis; venous insufficiency; upper limbs involvement; vascular spiders; skin coldness; and lymphangitis attacks. In addition, orthopedic alterations were examined in all patients. We recruited 138 patients (median age=47.6 years; mean BMI=29.9 Kg/m2). Using waist-to-height-ratio, 41.3% of the patients were slim or healthy. The most frequent type of lipedema was Type III (71%), and most were in stage 1 and 2. The features of lipedema with a prevalence >80% were symmetrical involvement, unaffected feet, pain, bruising, vascular spiders, and disproportion. Pain was nociceptive in 60.2% and neuropathic in 33.1%, and there was a reduced social or working activities in 37.9%. Orthopedic alterations including cavusfeet or valgus-knees were observed in 1/3 of the patients. X-ray of the knees was performed in 63 patients and knee osteoarthritis diagnosed in 37. We found that the most frequent manifestations of lipedema were bilateral involvement, unaffected feet, pain, easy bruising, vascular spiders, and disproportion between the upper and lower parts of the body. These should be considered as major criteria for diagnosis. In addition, our findings on the prevalence of orthopedic alterations in patients with lipedema highlights the need for a multidisciplinary and integrated approach.","PeriodicalId":51122,"journal":{"name":"Lymphology","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2022-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"47168893","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Non-FDA approved foreign substances injected in areas such as the hips and buttocks for aesthetic purposes have resulted in significant complications including secondary lymphedema. We sought to demonstrate lymphoscintigraphic abnormalities in a group of patients with lower extremity edema following infiltration of foreign substances in but-tocks and hips to confirm secondary lymphedema. This retrospective and observational study examined 10 lower extremities for lymphoscintigraphic abnormalities from patients with history of infiltration of foreign substances and subsequent complaints about lower extremity edema. Clinical evaluation, lymphedema index, lymphoscintigraphy, and Transport Index (TI) were evaluated. The average lymphedema index documented in each limb was 236.45 categorizing most of our patients in a lower limb lymphedema stage I. The average TI was 15.7 points (8.6 - 22.8 points) demonstrating that all patients show abnormal lymphoscintigraphy (LSG) patterns. LSG findings confirm the diagnosis of lower extremity lymphedema secondary to injection of foreign substances in the buttocks and hips in the group of patients studied.
{"title":"Human adjuvant disease secondary to foreign substance injections as a cause of secondary lower extremity lymphedema.","authors":"J. Lopez-Mendoza, L. M. Alvarado-Fernandez","doi":"10.2458/lymph.4840","DOIUrl":"https://doi.org/10.2458/lymph.4840","url":null,"abstract":"Non-FDA approved foreign substances injected in areas such as the hips and buttocks for aesthetic purposes have resulted in significant complications including secondary lymphedema. We sought to demonstrate lymphoscintigraphic abnormalities in a group of patients with lower extremity edema following infiltration of foreign substances in but-tocks and hips to confirm secondary lymphedema. This retrospective and observational study examined 10 lower extremities for lymphoscintigraphic abnormalities from patients with history of infiltration of foreign substances and subsequent complaints about lower extremity edema. Clinical evaluation, lymphedema index, lymphoscintigraphy, and Transport Index (TI) were evaluated. The average lymphedema index documented in each limb was 236.45 categorizing most of our patients in a lower limb lymphedema stage I. The average TI was 15.7 points (8.6 - 22.8 points) demonstrating that all patients show abnormal lymphoscintigraphy (LSG) patterns. LSG findings confirm the diagnosis of lower extremity lymphedema secondary to injection of foreign substances in the buttocks and hips in the group of patients studied.","PeriodicalId":51122,"journal":{"name":"Lymphology","volume":null,"pages":null},"PeriodicalIF":2.5,"publicationDate":"2022-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48176981","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
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