Multidisciplinary guidelines for initial evaluation of complicated lymphatic anomalies—expert opinion consensus

Abstract

Objective Complicated lymphatic anomalies (CLAs) are chronic, progressive, and debilitating conditions that share clinical features, yet key elements for optimal evaluation and management have not been established. We aimed to formulate expert opinion consensus‐based guidelines for comprehensive evaluation of CLAs. Study Design Patient support groups dedicated to CLAs organized an international conference for vascular anomaly experts from 16 specialties to address the objective. Participants received a set of questions before the meeting and reviewed the literature. Data extracted from international lymphatic anomaly registries were presented and the group separated for panel discussions during the conference. The recommendations achieving consensus within the panel were presented to the entire audience. Open debate occurred until majority approval was achieved. Results The expert group was composed of 52 physicians who defined the clinical elements required to evaluate and diagnose a CLA. The radiology panel established the preferred anatomical and functional imaging methods for diagnosis and the elements required to be described during interpretation. Two medical panels compiled the metabolic and hematologic tests at diagnosis and also recommended functional studies. The surgical group recommended precautions for biopsy and the pathology panel provided biopsy specimen processing guidelines. Conclusions Patients with CLAs require a comprehensive and targeted diagnostic plan for appropriate management, prevention of complications, and conservation of resources. As this population is managed by diverse medical and surgical specialties, we offer an expert multidisciplinary consensus‐based opinion on the current literature and on data extracted from international lymphatic anomaly registries.

A Large Skull Defect Due to Gorham-Stout Disease: Case Report and Literature Review on Pathogenesis, Diagnosis, and Treatment

“…In our patient, no biopsy of the affected region was taken, as the MR characteristics of an osteolytic region filled with non-enhancing soft-tissue and vascular shaped contrast enhancement in the diploë at the edge of the osteolysis, were very characteristic for the disease, and there was no clinical or laboratory suspicion for an alternative inflammatory, neoplastic, or infectious cause of the osteolysis. Recently, a multidisciplinary guideline for the initial evaluation of complicated lymphatic anomalies including Gorham-Stout disease was published (18). Although based on expert opinion consensus, authors present a diagnostic approach including laboratory, radiological, and histological evaluation.…”

“…They state that the need for a histological biopsy should be discussed in a multidisciplinary expert team after the clinical and radiological evaluation. A possible complication of a biopsy is the oozing of lymphatic fluid from the biopsy site, which may need lymph drainage or can induce a chylothorax in the case of a biopsy of an affected rib (18).…”

Pediatric Lymphatics Review: Current State and Future Directions

“…10,11 Central Lymphatic Flow Disorder Central lymphatic flow disorder, also described as central lymphatic conducting anomaly, presents as a triad of fetal/ neonatal pleural effusion, ascites, and diffuse anasarca. 12,13 This represents altered flow through the central lymphatic system without adequate collateralization. This is often associated with Noonan's syndrome, Turner's syndrome, and Down's syndrome.…”

Das Gorham-Stout-Syndrom – eine diagnostische und therapeutische Herausforderung

“…Laborchemisch ergibt sich beim GSS oftmals kein zielführender Befund, da relevante Blutparameter (z.B. Alkalische Phosphatase, Calcium) häufig auch normwertig sein können [6,7]. Dennoch ist es wichtig, im Rahmen der Diagnosestellung eine umfangreiche Blutuntersuchung durchzuführen, um mögliche Differenzialdiagnosen aus dem lymphatischen Formenkreis (z.B.…”

“…Dennoch ist es wichtig, im Rahmen der Diagnosestellung eine umfangreiche Blutuntersuchung durchzuführen, um mögliche Differenzialdiagnosen aus dem lymphatischen Formenkreis (z.B. die generalisierte lymphatische Anomalie) auszuschließen [6,7].…”