“If you can’t connect the issues, think connective tissues.”

Connective Tissue Disorders are a large group of conditions that affect the cells that build and hold our bodies together. Connective Tissues are the most abundant, providing support for, connecting to, and separating other tissue types throughout the entire body. 20 amino acids synthesize proteins, the machines of our cells. They are the enzymes that catalyze other biomolecules we need to survive, are responsible for glycolysis, and transportation of materials. The ECM (extracellular matrix) contains proteins, and DNA transcription depends on them for genotype to phenotype expression.

Connective Tissue Disorders occur when the body’s ability to synthesize, metabolize, or regulate proteins or their building blocks is disrupted. They can happen at any age, to any gender or race, being caused by congenital defects, genetic mutations, autoimmune disorders, nutritional deficiencies/excess, environmental toxins, or a combination of these factors. While some patients are symptomatic from birth, others may experience a decline in health after puberty or pregnancy, a viral or bacterial infection, toxic exposure, traumatic injury, or with the natural aging process. Scientists studying genomics are working to understand the intricate roles genetics, epigenetics, microbiomes, biomarkers, and other factors contribute to the development of these illnesses.

Some examples of the the diverse types of Connective Tissues that developed from the embryonic mesenchyme are are bone, fat, tendons, lymph, blood, ligaments, and cartilage. Collagen, elastin, reticular, fibrillin, fibulin, and Tenascin fibers are proteins that provide cellular structure and integrity. Connective Tissue cells include adipocytes, fibroblasts, chondroblasts, osteoblasts, macrophages, plasma cells, eosinophils, leukocytes, and mast cells.

Connective Tissue Disorders can weaken any body system and cause multiple related co-morbid conditions, depending on which cells are affected in the individual at any given time. Most CTD patients have 5-10 additional diagnoses, while others may have 20 or more related conditions including mitochondrial, metabolic, dental, autonomic, neurological, endocrinological, digestive, reproductive, vascular, circulatory, dermatological, and psychological disorders. Mosaicism, polymorphisms, hermaphroditism, chimerism, and pleiotropy seem to be more common in CTD patients.

There are more than 200 Heritable Connective Tissue Disorders and at least 36 of them have a wide variety of overlapping symptoms that make diagnosis difficult without proper testing through urinalysis, biopsy, medical imaging, blood work, or DNA testing. While some conditions have distinct physical features or musculoskeletal deformities, many are considered “invisible illnesses” because they are not obvious by looking at the person. Families with the same genetic mutations do not always have the same symptoms or related conditions. CTDs that cause Autoimmune Disease can be even harder to diagnose, since many do not have standardized testing available, have symptoms that mimic other common illnesses, and can vary dramatically with time.

While many Connective Tissue Disorders are considered RARE by the medical community, the patients in the chronic illness communities disagree. From our experience with these disorders, patients can go years or even decades without an accurate diagnosis, and there are no research programs aimed at tracking patients diagnosed with CTD. Thousands meet the diagnostic criteria, but do not have access to informed medical care. Patients are frequently sent for psychiatric evaluations and medicated before physicians even consider they might be a Zebra.

Despite specific genes being identified for most HCTDs, physicians are reluctant to order expensive genetic testing. Patients are told testing isn’t cost effective, that there is no treatment available, and sometimes they are even told that there isn’t a test. However, early and accurate diagnosis can be the difference between life and death for many patients, since the prognosis and treatments for each disorder are different.

We are working to build a partnership with other rare patient organizations, health companies, researchers, patients, registries, and advocates, developing RADARS (Rare Associations Directory and Registry System) to help address this issue. Our goal is to stop dissemination of misinformation, contribute to progress in scientific research, and to help improve the way patients are evaluated for treatment.  If  you would like to contribute to the development or join the RADARS Beta Program, please CONTACT us.

Connective Tissue Disorders include, but are not limited to:  Scurvy, Sarcoma, Ehlers-Danlos Syndrome, Rheumatoid Arthritis, Endometriosis, Progeria, Osteogenesis Imperfecta, Osteopetrosis, Multiple Sclerosis, Mixed Connective Tissue Disease, Sjogren’s Syndrome, Muscular Dystrophy, Systemic Lupus Erythematosus, Chronic Lyme, Marfan Syndrome, Mast Cell Activation Disorder, Scleroderma, Pheochromocytoma, Fibromyalgia, Syringomyelia, Chronic Regional Pain Syndrome, Myalgic Encephalomyelitis/Chronic Fatigue Syndrome, Systemic Herpes, Epidermolysis Bullosa, Polymyositis, Dermatomyositis, Lymphoma, Loeys-Dietz Syndrome, Vasculitis, Eosinophilic Fasciitis, Relapsing Polychondritis, Ectopia Lentis, Cutis Laxa, Fragile-X Syndrome, Scoliosis, Camurati-Engelmann Disease, Arterial Tortuosity Syndrome, CATSHL Syndrome, Congenital Contractural Arachnodactyly, Familial Thoracic Aneurysm and/or Dissection, Homocystinuria, LH-3 Deficiency Syndrome,  MACS, MASS, Lujan-Fryns Syndrome, Mitral Valve Prolapse, Stickler Syndrome, Snyder-Robinson Syndrome, Shprintzen-Goldberg Syndrome, Weill-Marchesani Syndrome,