Costa I Colomer Jordi, Garcia-Moyano Marta, Maiz Luis, Perez-Tarazona Santiago, Ruiz de Valbuena Marta, Ceberio Leticia, Correcher Patricia, Juliá-Palacios Natalia, Morales Montse, Pérez-Yagüe Gema, Villarrubia Jesús, Pérez-Rojo Raquel
Sant Joan de Déu Hospital, Pg. De Sant Joan de Déu, 2, Espluges de Lorbregat, 08950, Barcelona, Spain.
de Cruces University Hospital, Cruces Plaza, 12, Barakaldo, Bizkaia, 48903, Spain.
Respir Med Case Rep. 2025 Apr 4;55:102202. doi: 10.1016/j.rmcr.2025.102202. eCollection 2025.
Lysosomal storage diseases (LSD) are inherited diseases caused by mutations affecting genes encoding the function of lysosomal enzymes. Acid sphingomyelinase deficiency (ASMD) is an ultra-rare, progressive, and often fatal LSD with an estimated prevalence of 1-in-50,000-250,000 individuals. The PrevASMD study established the ASMD prevalence in Spain at 35 patients. Almost all present asymptomatic interstitial lung disease (ILD), since >90 % patients with chronic visceral ASMD have radiographic evidence of ILD.
This case series aims to emphasize the importance of ASMD in adult and pediatric patients with ILD, and to underline the consideration of pulmonary involvement as a key feature of the multisystemic manifestation of ASMD.
This case series describes seven adult and pediatric cases of ASMD in Spain. All presented with pulmonary function impairment. Data were collected on clinical presentation, diagnostic workup, pulmonary function tests, imaging studies, and patient outcomes during follow up.
Sphingomyelin accumulation in ASMD leads to multi-systemic disease involving spleen, liver, lungs, bone marrow, and lymph nodes. Almost all patients presented with asymptomatic ILD, but not all of them exhibited respiratory symptoms and not all were referred to pulmonologists. Periodic assessments included pulmonary function testing (forced vital capacity and diffusing capacity for carbon monoxide), O2 saturation, and exercise tolerance testing.
ASMD patients presented with different target organ involvement, with lung involvement contributing significantly to patient morbi-mortality. ASMD diagnostic suspicion among pulmonologists treating ILD is thus crucial, as multidisciplinary monitoring of ILD as a feature of ASMD can ensure its correct management and follow-up.
溶酶体贮积病（LSD）是由影响编码溶酶体酶功能的基因突变引起的遗传性疾病。酸性鞘磷脂酶缺乏症（ASMD）是一种极其罕见、进行性且通常致命的溶酶体贮积病，估计患病率为1/50000 - 250000。PrevASMD研究确定西班牙ASMD患病率为35例患者。几乎所有患者都存在无症状间质性肺疾病（ILD），因为超过90%的慢性内脏型ASMD患者有ILD的影像学证据。
本病例系列旨在强调ASMD在成人和儿童ILD患者中的重要性，并强调将肺部受累视为ASMD多系统表现关键特征的考量。
本病例系列描述了西班牙7例成人和儿童ASMD病例。所有患者均有肺功能损害。收集了临床表现、诊断检查、肺功能测试、影像学研究以及随访期间患者结局的数据。
ASMD中鞘磷脂蓄积导致多系统疾病，累及脾脏、肝脏、肺、骨髓和淋巴结。几乎所有患者都有无症状ILD，但并非所有患者都有呼吸道症状，也并非所有患者都转诊至肺科医生处。定期评估包括肺功能测试（用力肺活量和一氧化碳弥散量）、血氧饱和度和运动耐量测试。
ASMD患者存在不同靶器官受累，肺部受累对患者的发病率和死亡率有显著影响。因此，治疗ILD的肺科医生对ASMD进行诊断怀疑至关重要，因为将ILD作为ASMD的一个特征进行多学科监测可确保其得到正确管理和随访。
