Ehlers-Danlos syndrome is a rare disease, the classical type is only diagnosed in about 1 in 20,000 individuals. Across all types of EDS, about 1 in 5,000 individuals receive a diagnosis.

Classical EDS is caused by a mutation in a gene that encodes a protein called collagen, which provides structure to the skin and other connective tissues. Collagen also provides extracellular structure for tissues and organs. When the collagen  gene is mutated, it causes a lack or lower amounts of this protein in the body, leading to less connective tissue development. Most cases of EDS are due to a mutation in the genes COL5A1 or COL5A2 which affect the protein type V collagen. Some rare cases are caused by a mutation in the COL1A1 gene which affects the protein type 1 collagen. 

These genetic mutations are autosomal dominant in nature. Human genes are located on condensed sequences of DNA known as chromosomes. Every person has 23 pairs of chromosomes, one inherited from each parent. Different genes can be located on one or more chromosomes, and every cell nucleus contains every chromosome. Normal gene inheritance patterns stem from the inheritance of one chromosome from each parent. If a gene is abnormally short, long, or has other mutations that change the DNA code, it will change proteins  that the cell needs to function properly. In autosomal dominant inherited disorders, a mutated gene need only be on one chromosome to have an effect on the offspring. This can be inherited from only one parent if they carry the mutated gene.

The symptoms of classical Ehlers-Danlos syndrome include the major and minor criteria used to diagnose the disease before an official genetic test. These symptoms are: 

Major diagnostic criteria: 

1. Skin hyperextensibility

2. Atrophic scarring 

3. Generalized joint hypermobility (GJH) 

Minor diagnostic criteria 

1. Easy bruising 

2. Soft, doughy skin 

3. Molluscoid pseudotumors 

4. Subcutaneous spheroids 

5. Hernia 

6. Epicanthal folds 

7. Complications of joint hypermobility

8. Family history of a first-degree relative

Individuals with EDS may have fragile skin, which can lead to being prone to cuts, bruises, scarring on the knees, elbows, shins, forehead, and chin (common sites of scrapes during childhood). This can also make healing after surgery difficult as cuts tend to remain widened. In early childhood, skin fragility and muscular hypotonia may occur, which can delay motor development milestones. Fragile tissues of the organs may increase risk of complications such as hernias, or a prolapsed pregnancy or cervical insufficiency for people who are pregnant. 

Joint hypermobility can increase a person’s chance of dislocations or subluxations, and may also be associated with chronic joint pain.

A final diagnosis of Ehlers-Danlos syndrome requires the individual to present with certain criteria, the major two being skin hyperextensibility and atrophic scarring, and generalized joint hypermobility (GJH). There are also nine other minor criteria that may point towards a EDS clinical diagnosis. If an individual case presents with the two major criteria, or one of the major criteria and at least 3 minor criteria, their diagnosis can then be reviewed with genetic testing. Molecular testing for the presence of an affected gene mutation associated with the disordered criteria is required for EDS confirmation.

An official diagnosis of Ehlers-Danlos syndrome may require a genetic screen to determine if a mutation of a collagen gene is present, but there are other measures for evaluating an individual for potential EDS diagnoses. 

1. Skin hyperextensibility is measured against a scale of normal skin elasticity, and is considered hyperextensible when it can be stretched over 1.5cm in the forearms and hands, over 3cm in the neck, elbow, and knees, and over 1cm on the palm of the hand. 

2. Joint hypermobility is measured against a scale known as the Beighton score, where a score of over 5 is considered positive for generalized joint hypermobility (GJH); this is also evaluated on the basis of age as joints decrease in mobility with age

3. Skin biopsy is an examination of a small piece of affected tissue under a microscope to confirm the presence of collagen flowers, an abnormal structure of collagen fibres that indicates EDS.

Most treatments for Ehlers-Danlos syndrome are given based on the symptoms an individual may experience. One of the most crucial treatments occurs after injury, when the skin is less likely to heal with normal elasticity. Individuals with EDS should receive quick and precise treatment to open wounds to prevent reopening or scarring. This can involve receiving care to close the wound as soon as possible, and in some cases seeking a plastic surgeon to close wounds. Stitches may need to remain in place for longer than normal skin conditions, and other types of bandages to support this tissue type can be applied (steri-strips and tubular bandages).

Many individuals with EDS have few complications associated with the rare disease, and other than skin abnormalities and joint hypermobility may live relatively unaffected lives. However, it is common for individuals with EDS to be misdiagnosed with Munchausen’s syndrome, in which the individual effectively makes up their symptoms. EDS is a real rare disease with its own associated symptoms and complications and should be treated as such.

Some individuals with EDS who experience injury to the skin should receive adequate care after damage to prevent scarring, and to properly repair the tissue after surgery. 

People with the COL1A1 mutation may be at an increased risk of vascular complications and should receive regular monitoring of their heart health. 

1. https://www.healthing.ca/wellness/what-is-ehler-danlos-the-disease-jameela-jamil-claims-to-have

2. https://www.ehlers-danlos.org/information/classical-ehlers-danlos-syndrome/

3. https://www.nhs.uk/conditions/ehlers-danlos-syndromes/

4. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=287 

5. https://franklincardiovascular.com/classical-ehlers-danlos-syndrome/

6. https://medlineplus.gov/genetics/condition/ehlers-danlos-syndrome/