The kind of doctor that treats Ehlers-Danlos is a medical geneticists as well as a physical therapist, rheumatologist, orthopedist and cardiologist.
For EDS or Ehlers-Danlos syndrome your main primary care physician is often your first point of contact, who will then refer you to other specialists.
Medical geneticists often are the primary specialists for diagnosing Ehlers-Danlos syndrome and they can also confirm the exact type of EDS and provide genetic counseling.
Physical therapists are essential for helping to build joint stability, and they must also specialize in hypermobility to avoid any injuries.
Rheumatologists specialize in connective tissue diseases and can help to manage chronic joint pain and muscle pain.
Orthopedists focus on joint, bone and skeletal issues and cardiologists are required for vascular types of EDS, or when managing of heart related issues and autonomic dysfunctions like POTS.
There is a test for Ehlers-Danlos, although the test depends on the type of Ehlers-Danlos syndrome you have as there are actually 13 subtypes of Ehlers-Danlos Syndrome.
For 12 of the subtypes of Ehlers-Danlos Syndrome there are genetic testing, through blood and or saliva, which can confirm the diagnosis of EDS or Ehlers-Danlos Syndrome by identifying the specific gene mutation.
Hypermobile EDS is purely diagnosed through clinical evaluation and a doctor, who is often a geneticist or rheumatologist will review your medical history and family history, do a physical exam and use the Beighton score to measure your joint hypermobility.
The doctor will also check to see if you meet the specific diagnostic criteria for chronic pain, skin texture as well as joint instability.
And for other subtypes of EDS or Ehlers-Danlos syndrome like vascular and classical, it is diagnosed through genetic testing to pinpoint the specific mutated genes like COL5A1, COL5A2, or COL3A1).
In some cases, a skin biopsy may also be used to examine collagen structure under a microscope.
EDS or Ehlers-Danlos syndrome is also controversial because there's a lack of diagnostic tests for the most common type of EDS or Ehlers-Danlos Syndrome as well as widespread medical gaslighting and a rise of social media trends in which EDS is sometimes even misused to explain complex and uncharacterized chronic pain.
While the rarer forms of EDS like Vascular EDS are identifiable through genetic testing, Hypermobile EDS, that accounts for 80 percent to 90 percent of cases of EDS is diagnosed strictly through clinical assessments and this subjective diagnostic process leaves room for debate among doctors and can lead to inconsistent diagnosis.
Conditions that can also be mistaken for Ehlers-Danlos Syndrome include Fibromyalgia & Chronic Fatigue Syndrome (ME/CFS), Stickler Syndrome Osteogenesis Imperfecta, Loeys-Dietz Syndrome, Marfan Syndrome and Hypermobility Spectrum Disorders.
Fibromyalgia & Chronic Fatigue Syndrome (ME/CFS) is frequently misdiagnosed alongside of Ehlers-Danlos Syndrome because of overlapping chronic widespread pain and severe exhaustion, although these also lack hypermobility or skin fragility.
Stickler Syndrome affects collagen in the cartilage and the eyes, which leads to joint pain, vision/hearing issues and early arthritis.
Osteogenesis Imperfecta, is also known as brittle bone disease and results in loose joints, frequent fractures and even sometimes blue sclera.
Loeys-Dietz Syndrome is a genetic syndrome that causes arterial aneurysms, skeletal abnormalities and soft and translucent skin.
Marfan Syndrome is a genetic disorder, which affects connective tissue, and often causes unusually long limbs, heart/aortic issues and joint laxity.
And hypermobility spectrum disorders are often confused with Ehlers-Danlos Syndrome, but HSD or Hypermobility Spectrum Disorders involve symptomatic joint hypermobility and pain, but does not meet the strict genetic or systemic criteria for EDS or Ehlers-Danlos Syndrome.
The age that EDS or Ehlers-Danlos syndrome usually starts is from birth, but the symptom onset of EDS or Ehlers-Danlos syndrome is often in childhood or adolescence ages.
EDS or Ehlers-Danlos syndrome often also emerges during puberty.
The actual age of onset of EDS or Ehlers-Danlos syndrome varies.
EDS or Ehlers-Danlos syndrome is a genetic condition that is actually present from birth.
And for some subtypes of Ehlers-Danlos syndrome, the signs may be noticeable as early as infancy, or remain mild enough that the symptoms or signs of Ehlers-Danlos syndrome are not noticed until adulthood.
For Vascular EDS or (vEDS), it's a rarer and more severe subtype of Ehlers-Danlos syndrome and initial symptoms of Ehlers-Danlos syndrome or vascular Ehlers-Danlos syndrome like severe, unexplained bruising might appear in childhood or even adolescence.
Although the most severe signs of vascular EDS or vascular Ehlers-Danlos syndrome, like arterial or organ ruptures are usually the first major indicators and are frequently present in adulthood.
For hypermobile EDS or hEDS and Classical EDS, the signs like hypermobility or double jointedness, frequent joint dislocations and easily bruised, soft or stretchy skin will often appear in early childhood or puberty.
Although, these are also frequently dismissed as being growing pains or clumsiness, which is also why the diagnosis is often delayed until the person is in their 20s, 30s, or even their 40s.
Ehlers-Danlos Syndrome (EDS) is not a type of autism. EDS is a group of genetic connective tissue disorders that affect the skin, joints, and blood vessels.
In contrast, autism (ASD) is a neurodevelopmental condition that affects how a person communicates, interacts, and perceives the world.
While they are entirely distinct conditions, clinical research shows a strong overlap and co-occurrence between EDS (particularly the hypermobile type, hEDS) and autism.
Ehlers-Danlos Syndrome (EDS) can be passed down by either parent.
Because Ehlers-Danlos Syndrome (EDS) is an autosomal condition, the gene is not tied to a specific sex chromosome, meaning both mothers and fathers can carry and transmit it equally.
Autosomal Dominant Inheritance: The faulty gene only needs to be inherited from one parent to cause the condition.
If one parent has this type, each child has a 50% chance of developing EDS.
This applies to the most common type, Hypermobile EDS (hEDS), as well as Classical and Vascular EDS.
Autosomal Recessive Inheritance: The faulty gene must be inherited from both parents for the child to develop the condition (e.g., Kyphoscoliotic EDS).
If both parents are carriers, there is a 25% chance of the child having EDS in each pregnancy.
Spontaneous (De Novo) Mutations: It is also possible to be the first person in your family to have EDS due to a spontaneous gene change that was not inherited from either parent.