Psychological Processes Related to Persistent Physical Symptoms in Patients With a Suspected Rare Disease: A...

This cross-sectional interview study aimed to investigate subjective experiences and illness models of patients presenting at a rare disease center. In addition, we strove to identify psychological factors that may be associated with patients' heterogeneous and often unspecific persistent physical symptoms (PPS).

We conducted semi-structured interviews with 27 adult patients [56% female; mean age: M (SD)=44.0 (15.3)] with a suspected rare disease presenting at the Martin Zeitz Center for Rare Diseases in Hamburg, Germany. Numeric rating scales and open-ended questions assessed disease burden, experiences with the health care system, and subjective thoughts and feelings related to PPS, along with psyche-soma interactions and the subjective illness theory. Data were analyzed with qualitative content analysis.

All patients reported negative experiences with the health care system, including strained doctor-patient relationships (82%), for instance through stigmatization, and dissatisfaction with care (85%). Patients described several aspects that negatively influenced their PPS, including significant life events before symptom onset (41%), mental stress (44%), and the intense mental focus on symptoms (22%). Participants also described factors improving their PPS, such as psychotherapy (26%) and an optimistic attitude (26%). Some patients had an illness model that integrated psychosocial aspects (19%) while others had a biomedical explanation (26%).

Patients with a suspected rare disease describe a variety of challenging experiences with their somatic symptoms and the diagnostic process. Our results support the assumption that psychological aspects may contribute to the heterogeneous and often unspecific somatic symptoms that patients at rare disease centers present with.