Clinical features and outcomes of male patients with lymphangioleiomyomatosis: A review

Abstract

Background: Lymphangioleiomyomatosis (LAM) is a rare disease involving multiple systems, which is divided into sporadic LAM (S-LAM) and tuberous sclerosis complex-LAM, mostly affecting women who are in childbearing age stage. Data on male patients are limited and scattered. Therefore, it is necessary to conduct a systematic review to investigate the clinical features, diagnosis, treatment, and outcomes of LAM in male. Methods: We performed a literature review by searching for all the published reported cases of LAM in male during the past 35 years (April 1986–October 2021). Results: 36 male patients described in 26 references were included in this article. The median age of onset was 34 years (interquartile range: 1–79). The most common initial manifestations were cough, dyspnea, respite, and hemoptysis, with pulmonary complications such as pneumothorax and chylothorax. Five patients (13.9%) were asymptomatic at admission. Nearly half of the 36 male patients had thin-walled air-filled cysts that were visible throughout both lungs. Considering the abovementioned atypical clinical features, misdiagnosis was committed in 8 patients (22.2%). In addition, patients with tuberous sclerosis complex lymphangioleiomyomatosis often have no pulmonary manifestations at onset but present multiple extrapulmonary manifestations and have higher rates of renal angiomyolipomas than patients with S-LAM ( P < 0.01). Eventually, 4 patients with S-LAM eventually died. Conclusion: Physicians should increase the awareness of LAM in male. Early monitoring of various systems should be recommended to ensure early management and active follow-up. Tuberous sclerosis complex patients should immediately be tracked for the onset of LAM disease to improve prognosis.

Sporadic lymphangioleiomyomatosis in a man with somatic mosaicism of TSC2 mutations, a case report

“…LAM in male patients has been rarely described. 2 Here, we report a man with histopathologically diagnosed sporadic LAM caused by somatic mosaicism for novel TSC2 mutations.…”

Lymphangioleiomyomatosis: A Literature Overview

“…Elevated serum VEGF-D in 70% of patients with LAM is a clinically useful diagnostic and prognostic biomarker. Furthermore, sirolimus, a therapeutic drug that inhibits VEGF-D and anti-lymphocyte proliferation, is highly effective in stabilizing lung function and minimizing complications in cases of LAM 9,10,19,20 .…”

Lymphangioleiomyomatosis: where endocrinology, immunology and tumor biology meet

“…There are four tenets of LAM that afford us insight into its pathogenesis and potential therapeutic targets. First, LAM has an extreme female sexual dimorphism, as nearly every significant case of LAM occurs in genetic females (Aubry et al 2000, Miyake et al 2005, Taveira-DaSilva et al 2010, Zhang et al 2022. Related to this sexual dimorphism, clinical evidence indicates that LAM progression may be estrogen sensitive, as LAM first becomes apparent after puberty, worsens with estrogen use or pregnancy (Shen et al 1987, Brunelli et al 1996, Johnson & Tattersfield 1999, and often stabilizes after menopause (Johnson & Tattersfield 1999, Lu et al 2017).…”