Clarity Pharma Research LLC, 2375 E. Main Street, Suite A300, Spartanburg, SC, 29307, USA.
Palvella Therapeutics Inc., 125 Strafford Avenue, Suite 360, Wayne, PA, 19087, USA.
Orphanet J Rare Dis. 2022 May 12;17(1):192. doi: 10.1186/s13023-022-02336-3.
Lymphatic malformations (LMs) represent a potentially life-threatening, rare disease of the lymphatic system characterized by development of abnormal vessels, outpouchings, or cysts filled with lymphatic fluid. There are three morphologic types of LMs based on the size of the individual cysts: macrocystic (typically > 2 cm), microcystic (generally < 2 cm), and mixed (includes aspects of both). Macrocystic LMs typically exist beneath the skin and often can involve vascular components and/or organs. Microcystic LMs often have a cutaneous component and clinically present with lymphorrhea, bleeding, pain, itching, malodor, and functional deficits. There are no treatments approved by the US Food and Drug Administration (FDA) for either macrocystic or microcystic lymphatic malformations. The totality of the epidemiologic literature for LM is limited to the incidence of the disease among various birth cohorts. This is the first nationally representative study to estimate the national managed prevalence for patients with microcystic LM or combined LM with a cutaneous component annually across physician specialties likely to manage this condition. We conducted a retrospective observational survey of a nationally representative sample of patient-care physicians in the United States most likely to manage lymphatic malformations with a cutaneous component (LMC). Once recruited, target physicians participated via an electronic questionnaire. We weighted study physician self-estimates of the number of LMC patients treated in the past 12 months to reflect the specialists' corresponding proportion in the national universe. All patient information was anonymous; no personally identifiable information was collected.
Of the 420 physicians who visited the study website, 316 agreed to be screened and to participate (75.2% participation rate). Our survey results indicated the estimated number of unique annually managed LMC patients by target specialists is 79,920 (CI 66,600-93,250). This number corresponds to managed prevalence of 24.1 LMC patients per 100,000 population (CI 19.6/100,000-28.4/100,000).
The study indicates that while rare, LMC affects a substantial number of people in the US (79,920) who are being managed by one or more specialists. By better understanding the prevalence of people living with LMC who require treatment, efforts to both increase disease awareness and to identify underserved populations in need of potential new treatments can be better focused.
淋巴管畸形（LMs）是一种潜在危及生命的罕见淋巴系统疾病，其特征为异常血管、膨出或充满淋巴液的囊肿的发育。根据单个囊肿的大小，LM 有三种形态类型：巨囊型（通常>2cm）、微囊型（通常<2cm）和混合型（包括两者的特征）。巨囊型 LM 通常存在于皮肤下，经常涉及血管成分和/或器官。微囊型 LM 通常有皮肤成分，临床上表现为淋巴液漏出、出血、疼痛、瘙痒、恶臭和功能缺陷。美国食品和药物管理局（FDA）尚未批准任何治疗巨囊型或微囊型淋巴管畸形的药物。关于 LM 的流行病学文献总量仅限于不同出生队列中该病的发病率。这是第一项全国代表性研究，旨在估计每年在各个医生专业中管理微囊型 LM 或具有皮肤成分的 LM 合并症的患者的全国管理患病率。我们对美国最有可能管理具有皮肤成分的淋巴管畸形（LMC）的患者护理医生进行了一项全国代表性样本的回顾性观察性调查。一旦招募，目标医生将通过电子问卷参与研究。我们对过去 12 个月内治疗 LMC 患者的研究医生自我估计人数进行了加权，以反映专家在全国范围内的相应比例。所有患者信息均为匿名，不收集任何可识别个人身份的信息。
在 420 名访问研究网站的医生中，有 316 名同意接受筛选并参与（参与率为 75.2%）。我们的调查结果表明，目标专家每年管理的独特 LMC 患者人数估计为 79920 人（95%置信区间为 66600-93250）。这一数字相当于每 10 万人中有 24.1 例 LMC 患者（95%置信区间为 19.6/100000-28.4/100000）。
该研究表明，虽然罕见，但 LMC 在美国影响了大量患者（79920 人），这些患者正在一名或多名专家的管理下。通过更好地了解需要治疗的 LMC 患者的流行情况，可以更好地集中精力提高疾病意识，并确定需要潜在新治疗方法的服务不足人群。
