What is hEDS/HSD?
The following brief summary is excerpted from Hypermobile and Happy. Be sure to read the book to get more detailed information, including source citations.
Diagnosis Hypermobile Ehlers-Danlos Syndrome (hEDS) and Hypermobility Spectrum Disorder (HSD) are connective tissue disorders which are marked by above-average joint flexibility but which have slightly different diagnostic criteria. The terms "Syndrome" and "Spectrum Disorder" both indicate a condition that manifests with a wide variety of symptoms among individuals. Because of the great differences in symptoms among patients, these conditions have been difficult to diagnose until now. Both conditions are diagnosed based on clinical observations and patient reports, with the most important criteria being above-average range of movement in one or more joints, currently or in the past.
What is a connective tissue disorder? Connective tissue comprises and lends structure to tissues throughout the body — ligaments, tendons, bones, skin, muscles, fascia, organs, nerves, blood vessels, the brain — pretty much everything. In a connective tissue disorder, the tissues are weak, fragile, and excessively permeable, and so hEDS/HSD can cause joint instability, chronic pain, Digestive System Problems, allergies, dysautonomia, and more.
Is hEDS/HSD a rare disease? It is said that doctors hear hoofbeats and expect a horse, when in fact the patient is a different hoofed animal — a zebra — making diagnosis elusive for many patients. Until now, hEDS has been considered a rare disease (thought to exist in 1 in 5,000 people), but recent studies have found that it is too common to reach the qualifications of a rare disease. Depending on which recent study report you read, hEDS may actually exist in 1 in 500 people or maybe 1 in 100, or if HSD is included, it may exist in 1 in 29 or even 1 in 7.
How does hEDS/HSD affect the body?
Joint Injuries Connective tissue is predominantly made of collagen, which is the most abundant protein in our bodies and is present in especially high ratios in some of our most noticeable parts: the skin and especially the ligaments. When collagen is not functioning correctly in ligaments, they stretch or are lax; they do not support and stabilize the joints. For this reason, hEDS is expected to present with injuries of the shoulders, hips, ankles, wrists, etc. The neck, with its highly articulated bones, is one of the worst trouble spots for many hypermobile people, especially because improper movement of these bones can damage the nerves that serve the entire body and create a myriad of symptoms. Collagen-rich ligaments also exist in places we often don’t think of as joints, such as the junctions where the ribs meet the backbone and sternum, so chest and back pain is also common.
Skin Manifestations In addition, collagen is responsible for giving the skin structure. Without this structure, the skin not only stretches and droops in unusual ways, it is prone to certain types of scars and stretch marks. The commonly striped appearance of stretch marks on hypermobile people is why the mascot for hEDS is the striped zebra.
Lymph System Manifestations Not only are visible skin abnormalities a possibility with hypermobility, skin without the proper structure normally given it by collagen is not as capable of supporting the lymph channels, which are also made with collagen. These lymph vessels that run through some layers of the skin and throughout all of the body and its organs, are a very important part of the immune system, serving as microscopic tubes through which nutrients and waste molecules are transported throughout the body. Reduced lymph flow can cause a plethora of symptoms and can be implicated in serious conditions such as heart disease, neurodegenerative diseases, obesity, irritable bowel conditions, aging, lymphedema (a swelling of fluids in the soft tissues of the body), and metabolic syndrome (a condition of obesity, low HDL cholesterol, and high blood sugar, blood pressure, and triglycerides that can lead to heart disease, diabetes, and stroke).
Tissue Permeability To make matters worse, the skin is more permeable with a connective tissue disorder. This porous nature is sometimes termed “leaky skin,” and it allows potentially poisonous chemicals to be absorbed into the body that would normally be prevented from entering. This can lead to allergic-type reactions, eczema, and more.
Just as the skin can be leaky, the gut and lungs can be leaky as well, leading to numerous problems. Many hypermobile people have gastrointestinal distress and food allergies of some kind, as well as asthma, sensitivities to inhaled chemicals, and a number of other respiratory complaints.
Manifestations in Other Bodily Systems Collagen abnormalities in the veins can be responsible for problems with blood pressure, heart rate, temperature regulation, varicose veins, and more. The insufficiently supported and/or damaged nervous system can operate improperly, wreaking havoc in the gastrointestinal tract and cardiovascular system and making the body either too sensitive or insensitive. The bones can be prone to osteoporosis. The teeth and eyes can be prone to problems of their own. The muscles may atrophy too easily. The fascia, tendons, and other connective tissues that are responsible for holding the organs in place may not do their jobs properly. And the list of potentially affected parts goes on.
What causes symptoms to start? For some people, the symptoms of hEDS/HSD are evident from infancy, but for others, they do not appear until late in life. For some people, the symptoms come and go. Doctors are not sure why this is so. A correlation with hormonal changes has been noticed — especially estrogen. Women with these conditions often report that their problems started when they started menstruating, or went into perimenopause, or hit menopause, or got pregnant, or that the problems get worse every month during their period or when they ovulate. If estrogen has an impact, it seems not to be the quantity of the hormone but the fluctuation of it that matters.
Will hEDS/HSD get worse? Fortunately, hEDS/HSD is not considered to be terminal (leading to death), nor progressive (getting worse over time). In fact, some patients with connective tissue disorders get better as they get older because flexibility naturally decreases with age. And, patients with hEDS/HSD have the same life expectancy as the general public.
Doctors have noticed a pattern of progression in hEDS/HSD, however, and it can seem to get worse over time. Most patients progress from hypermobility to pain and then to stiffness. This is likely due to joint injuries that have not been treated or have not responded to the treatment given.
How do you get hEDS/HSD? HEDS is an inheritable condition, but as of yet, there is not a known genetic marker that is found in all hEDS patients. It is likely that if you have hEDS, some of your family members have it, too. However, it manifests differently in everyone. Two siblings with hEDS can have completely different lists of symptoms, even identical twins. The list of all possible symptoms is extremely long, and this varying manifestation of the symptoms makes it challenging for doctors to recognize hEDS in a new, undiagnosed patient.
Buy Hypermobile and Happy now to get a full understanding of the symptoms of hypermobility throughout the body, the causes of hypermobility-related symptoms, the diagnosis of hEDS/HSD, the treatment of hypermobility-related conditions, and much more!