Department of Tranzo, TSB, Tilburg University, PO Box 90153, 5000 LE, Tilburg, The Netherlands.
Department of Pediatrics, Amalia Children's Hospital, Nijmegen, The Netherlands.
Orphanet J Rare Dis. 2021 Jun 29;16(1):289. doi: 10.1186/s13023-021-01918-x.
Patients with predominantly (primary) antibody deficiencies (PADs) commonly develop recurrent respiratory infections which can lead to bronchiectasis, long-term morbidity and increased mortality. Recognizing symptoms and making a diagnosis is vital to enable timely treatment. Studies on disease presentation have mainly been conducted using medical files rather than direct contact with PAD patients. Our study aims to analyze how patients appraised their symptoms and which factors were involved in a decision to seek medical care.
14 PAD-patients (11 women; median 44, range 16-68 years) were analyzed using semi-structured interviews until saturation of key emergent themes was achieved.
Being always ill featured in all participant stories. Often from childhood onwards periods of illness were felt to be too numerous, too bad, too long-lasting, or antibiotics were always needed to get better. Recurrent or persistent respiratory infections were the main triggers for patients to seek care. All participants developed an extreme fatigue, described as a feeling of physical and mental exhaustion and thus an extreme burden on daily life that was not solved by taking rest. Despite this, participants tended to normalize their symptoms and carry on with usual activities. Non-immunologists, as well as patients, misattributed the presenting signs and symptoms to common, self-limiting illnesses or other 'innocent' explanations. Participants in a way understood the long diagnostic delay. They know that the disease is rare and that doctors have to cover a broad medical area. But they were more critical about the way the doctors communicate with them. They feel that doctors often don't listen very well to their patients. The participants' symptoms as well as the interpretation of these symptoms by their social environment and doctors had a major emotional impact on the participants and a negative influence on their future perspectives.
To timely identify PAD, 'pattern recognition' should not only focus on the medical 'red flags', but also on less differentiating symptoms, such as 'being always ill' and 'worn out' and the way patients cope with these problems. And, most important, making time to really listen to the patient remains the key.
主要（原发性）抗体缺陷（PAD）患者常发生复发性呼吸道感染，可导致支气管扩张、长期发病和死亡率增加。识别症状并做出诊断对于及时治疗至关重要。疾病表现的研究主要是通过医疗档案进行的，而不是直接与 PAD 患者接触。我们的研究旨在分析患者如何评估自己的症状以及哪些因素会影响他们寻求医疗护理的决策。
使用半结构化访谈对 14 名 PAD 患者（11 名女性；中位数 44 岁，范围 16-68 岁）进行分析，直到关键新兴主题达到饱和。
所有参与者的故事都提到了一直生病。他们常常从儿童时期开始，就感到疾病太多、太严重、持续时间太长，或者总是需要使用抗生素才能康复。复发性或持续性呼吸道感染是患者寻求医疗护理的主要诱因。所有参与者都感到极度疲劳，这种疲劳被描述为身心疲惫的感觉，因此对日常生活造成了极大的负担，即使休息也无法缓解。尽管如此，参与者还是倾向于将自己的症状正常化，并继续进行日常活动。非免疫学家和患者都将出现的症状和体征归因于常见的、自限性疾病或其他“无害”的解释。参与者在某种程度上理解了漫长的诊断延迟。他们知道这种疾病很少见，医生需要涵盖广泛的医学领域。但他们对医生与他们沟通的方式更为批评。他们觉得医生通常不太听患者的意见。患者的症状以及他们的社交环境和医生对这些症状的解释对患者产生了重大的情绪影响，并对他们的未来前景产生了负面影响。
为了及时识别 PAD，“模式识别”不仅应关注医学“警示标志”，还应关注不太具区分性的症状，如“一直生病”和“疲惫不堪”，以及患者应对这些问题的方式。最重要的是，留出时间真正倾听患者仍然是关键。
