Chronic pain in patients with hereditary connective tissue disorders: a literature review
DOI: 10.32364/2587-6821-2026-10-3-6
Chronic pain in patients with hereditary connective tissue disorders: a literature review
I.A. Viktorova1, A.M. Poltavtseva1, D.S. Ivanova1, M.L. Maksimov2,3, G.I. Nechaeva1
1Omsk State Medical University, Omsk, Russian Federation
2Russian Medical Academy of Continuous Professional Education, Moscow,
Russian Federation
3Pirogov Russian National Research Medical University, Moscow, Russian Federation
This literature review presents a systematic analysis of current understanding of chronic pain in patients with hereditary connective tissue disorders (HCTD). It has been shown that pain is caused by complex interaction of various pathogenetic factors including peripheral nociceptive processes, neuropathic changes, central sensitization, and immune-inflammatory reactions. Articular hypermobility and unstable ligamentous apparatus contribute to chronic microtraumatization of tissues, while involvement of peripheral nerves and rearrangement of central nervous system determine development of neuropathic and central components of pain. Disorders of collagen structure associated with genetic mutations, as well as extracellular matrix disorders in microenvironment of "defective" collagen, also play an essential role. As collagen defects do not provide appropriate mechanical and trophic support for peripheral nerve fibers, this may contribute to their increased vulnerability to damage. In this regard, axonal polyneuropathy is considered as one of significant mechanisms of formation of chronic pain in patients with Ehlers — Danlos syndrome.
It is noted that clinical presentation of HCTD-associated pain syndrome is characterized by significant heterogeneity, it depends on a specific variant of the hereditary abnormality manifesting as various types of pain ranging from localized musculoskeletal pain to generalized and multifocal ones). Diagnosis is complicated by polymorphism of symptoms, their overlap between different disease entities, and lack of available molecular genetic verification methods.
The review emphasizes that chronic pain has a pronounced negative impact on quality of patients' life leading to limited physical activity, decreased social adaptation, and increased risk of disability; also, it is accompanied by psychoemotional disorders, sleep disorders, and autonomic dysfunction. Special attention is paid to clinical situations requiring increased vigilance due to a risk of severe complications.
The authors concluded that pathogenetic factors of chronic pain should be studied further, standardized diagnostic approaches should be developed and interdisciplinary treatment strategies should be implemented to increase efficiency of medical care and to improve prognosis in these patients.
Keywords: chronic pain, hereditary connective tissue disorders, connective tissue dysplasia, Ehlers—Danlos syndrome, Marfan syndrome, Loeys–Dietz syndrome, autoimmune connective tissue diseases.
For citation: Viktorova I.A., Poltavtseva A.M., Ivanova D.S., Maksimov M.L., Nechaeva G.I. Chronic pain in patients with hereditary connective tissue disorders: a literature review. Russian Medical Inquiry. 2026;10(3):146–152 (in Russ.). DOI: 10.32364/2587-6821-2026-10-3-6
About the authors:
Inna A. Viktorova — Dr. Sc. (Med.), Professor, Chief Freelance Specialist in Therapy and General Medical Practice (Family Medicine) of Ministry of Healthcare of the Omsk Region, Head of the Department of Polyclinic Therapy and Internal Diseases, Omsk State Medical University; 12, Lenin str., Omsk, 644099, Russian Federation; ORCID iD 0000-0001-8728-2722
Anastasia M. Poltavtseva — Teaching Assistant of Polyclinic Therapy and Internal Diseases, Omsk State Medical University; 12, Lenin str., Omsk, 644099, Russian Federation; ORCID iD 0000-0002-5342-9279
Daria S. Ivanova — C. Sc. (Med.), Assistant Professor, Assistant Professor of the Department of Polyclinic Therapy and Internal Diseases, Omsk State Medical University; 12, Lenin str., Omsk, 644099, Russian Federation; ORCID iD 0000-0002-4145-7969
Maksim L. Maksimov — Dr. Sc. (Med.), Professor, Dean of the Faculty of Preventive Medicine and Healthcare Organization, Head of the Department of Pharmacy, General Pharmacology and Pharmaceutical Counseling, Russian Medical Academy of Continuous Professional Education; 2/1, bldg. 1, Barrikadnaya str., Moscow, 125993, Russian Federation; Professor of the Department of Pharmacology, Institute of Pharmacy and Medical Chemistry, Pirogov Russian National Research Medical University; 1, build. 6, Ostrovityanov str., Moscow, 117513, Russian Federation; Chief Freelance Clinical Pharmacologist of the Ministry of Health of the Republic of Tatarstan; ORCID iD 0000-0002-8979-8084
Galina I. Nechaeva — Dr. Sc. (Med.), Professor, Professor of the Department of Internal Diseases and Family Medicine, Additional Personalized Education, Omsk State Medical University; 12, Lenin str., Omsk, 644099, Russian Federation; ORCID iD 0000-0002-2255-128X
Contact information: Anastasia M. Poltavtseva, e-mail: poltavtseva.98@mail.ru
Financial Disclosure: no authors have a financial or property interest in any material or method mentioned.
There is no conflict of interest.
Received 21.02.2026.
Revised 17.03.2026.
Accepted 29.03.2026.
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