The symptoms of the disease usually present themselves in a fragmented way and are often attributed to distinct and disconnected causes
May 15 is the International Day of Ehlers-Danlos (SED) syndrome, a date dedicated to the awareness of this rare hereditary condition that affects the connective tissue responsible to support, firmness and elasticity to the body.
The SED can manifest itself in various ways and compromise various systems, such as musculoskeletal, cardiovascular, gastrointestinal, neurological, among other things, causing symptoms such as chronic pain, fatigue, hypermobile joints, skin fragility and vascular problems.
Diagnosis of Ehlers-Danlos syndrome
According to Fisiara Angelle Jácomo, from the center specialized in hypermability and pain (Cehd) in Brasilia (DF), the diagnosis of the syndrome, in particular the hypermobile subtype (Sedh), is still a great challenge in clinical practice, even if it is the most prevalent.
“One of the main obstacles is precisely the fact that Sedh does not have an identifiable genetic marker so far, unlike some other illness subtypes. This means that there is no laboratory examination or a specific genetic test that can confirm the diagnosis carefully”, explains the doctor.
Therefore, the doctor is of great importance to close the Diagnosis of the disease. “The diagnosis is essentially clinical, based on a combination of physical results, family history and subjective symptoms, which require a great professional experience and qualified listening”, reveals the professional, underlining that these characteristics make the disease considered “invisible”.
Causes of the subdiagnosis of Ehlers-Danlos syndrome
Sed patients usually do a lot up to a diagnosis, visiting several experts, such as orthopedists, rheumatologists, neurologists, gastroenterologists and psychiatrists, without a unified vision of the clinical picture.
“Many symptoms, such as widespread chronic pain, intense fatigue, recurring dislocations, autonomous disorders, Gastrointestinal disorders And mood changes end up being treated in isolation, as if they were independent conditions, when, in fact, they are part of the same syndromic spectrum, “explains Welber Sousa, a neurologist of the Cehd clinic.
Another factor that contributes significantly to the underwater diagnosis is the ignorance or the unpreparedness of most health workers, who rarely learn to know the SED during academic education. The result is that many patients spend decades to be misunderstood, receiving incorrect diagnosis, such as fibromyalgia, psychiatric or even labeled disorders such as hypochondriac.
Pain minimization
Even facing acute pains that led him several times to look for emergency care, the businessman Bruno Falcão has spent most of his life, with his conditions minimized as a simple “freshness”, also by some health professionals. Just three years ago he received the diagnosis of Sed. Since then, it has been able to better control pain and increase its quality of life.
“I live with severe pain – Mainly in the lower back part It is cervical, as well as in the legs – with fatigue and allergies from birth and I only discovered that I had been sed to 38, that is, three years ago. Until then, the doctors did not know what it was, they did not refer to any expert and the pain is only worsened, “he says.
According to him, he had already given up looking for help. “If it hadn’t been for the insistence of my wife, who brought me to a center specialized in pain, I would probably never have been diagnosed,” says Bruno Falcão, remembering that I spent about half an hour to lengthen and massage the calf when waking up because he could not even get on the floor.
Control of the disease
To control the disease, considered incurable by medicine, the entrepreneur undergoes a multidisciplinary treatment, including oral medicines combined with the modulation of venous pain (sympathetic venous block).
“Today the pain is controlled and I feel much better. Since I started the treatment, in addition to the drugs, I have been ordered to reduce the exposure of my body to situations that could trigger the pain. They recommended me, for example, to replace the breed from the bicycle – which really contributed to the reduction of pain – in addition to having helped in the loss of almost 15 kg. I was also recommended to exchange the types of shoes, because I easily turned my foot, adopting a diet that has not caused inflammation and to respect the limitations imposed by the syndrome more, “he explains.
By Camila Cortez
Source: Terra
Ben Stock is a lifestyle journalist and author at Gossipify. He writes about topics such as health, wellness, travel, food and home decor. He provides practical advice and inspiration to improve well-being, keeps readers up to date with latest lifestyle news and trends, known for his engaging writing style, in-depth analysis and unique perspectives.
