Diagnosis of Ehlers-Danlos Syndromes
The diagnosis of Ehlers-Danlos syndromes can be complex due to the wide variety of symptoms and overlapping features with other conditions. Since Ehlers-Danlos syndromes are genetic and vary in severity. Diagnosis is often delayed or misinterpreted—especially for milder types such as hypermobile EDS. A proper diagnosis usually involves a combination of clinical examination, family history, and, in some cases, genetic testing.
Doctors begin by assessing the patient’s physical signs. For hypermobile EDS, the Beighton Score is used to measure joint hypermobility. This system gives points based on how far joints like the knees, elbows, and fingers can bend beyond their normal range. A high score may support the diagnosis, but it is not enough on its own.
A detailed medical history is essential. Doctors look for recurring joint dislocations, chronic pain, frequent bruising, and slow wound healing. Family history is also considered—many forms of EDS run in families, so a parent or sibling with similar symptoms may point toward a hereditary connective tissue disorder.
Clinical Diagnostic Criteria
Clinical diagnostic criteria differ depending on the EDS type. For instance:
Classical EDS is diagnosed through skin and joint findings, sometimes supported by genetic testing for COL5A1 or COL5A2 mutations.
Vascular EDS requires DNA testing for mutations in the COL3A1 gene, especially in patients with thin skin, fragile arteries, or unexplained organ rupture.
Kyphoscoliotic and arthrochalasia types are extremely rare and confirmed through genetic analysis and specialist evaluation.
In hypermobile EDS, no known genetic marker has yet been identified, so diagnosis relies heavily on clinical signs, exclusion of other disorders, and expert judgement.
In South Africa, access to genetic testing is limited in many public health settings. This means diagnosis often depends on clinical recognition and symptom history alone. General practitioners may not be familiar with the full range of EDS symptoms, which can lead to underdiagnosis or misdiagnosis, particularly in rural communities.
Diagnosis of Ehlers-Danlos Syndromes
Specialist referral is often necessary. Rheumatologists, geneticists, or clinical genetic counsellors are best equipped to assess rare connective tissue disorders. In some cases, patients may need to travel to academic hospitals or private facilities for full assessment.
Although there is no cure, a confirmed diagnosis of Ehlers-Danlos syndromes opens the door to targeted treatment, lifestyle guidance, and access to specialist care. It also provides clarity and emotional validation for those who have struggled for years without answers.
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