Ehlers-Danlos syndromes

Connective tissue is what holds the body together from the inside: ligaments, tendons, the walls of blood vessels, the coverings of internal organs, the deep layer of the skin. Its strength rests on a protein called collagen, and collagen is built to a genetic blueprint. When there is a mistake in the blueprint, the tissue turns out too yielding, and the consequences show up at once in several places that at first glance have nothing to do with one another. These conditions are known as the Ehlers-Danlos syndromes. More than a dozen have been described, all of them uncommon, and they behave very differently: one person is bothered only by bendy joints and a few bruises, while for another the condition reshapes everyday life. Knowing which type is involved matters more than the umbrella diagnosis, because the type determines the monitoring, the precautions and the outlook.

Why one faulty part is felt all over the body

It helps to picture collagen as the steel frame inside a building. It does not stretch of its own accord, but it gives tissues their shape and stops them spreading under load. In the Ehlers-Danlos syndromes either the structure of the collagen fibres changes or the enzymes that stitch those fibres together stop working properly. The frame is still there, but it has gone soft.

Everything else follows logically. A ligament that ought to hold a joint gives way, the joint travels beyond its usual range and every so often slips out altogether. Skin that lacks firmness stretches and tears under very little force. Wounds heal slowly and leave a broad mark, because the new tissue in the scar is weak as well. The wall of a vessel or of the bowel copes less well with pressure. Hence the odd-looking collection of complaints in one person: fingers that bend too far, bruises on the shins, heartburn, light-headedness on standing up, and tiredness that never lifts.

The gene may come from a parent, or it may have changed for the first time in this particular person. In that case nobody else in the family is affected and the diagnosis arrives as a complete surprise.

Joints, skin and what shows from the outside

Which signs appear depends on the type, but some turn up in nearly every version.

• Excess joint movement. Elbows and knees bend past the straight line, the thumb reaches the forearm, the little finger folds backwards almost to a right angle. In childhood this is usually put down to natural suppleness, and the child is enrolled in gymnastics or dance.
• Dislocations and partial dislocations. A shoulder, a kneecap, the jaw or the small joints of the fingers come out of place during an ordinary movement: reaching for a mug, turning over in bed. Some people put them back themselves and stop treating it as an event at all.
• Pain. A dull ache in several joints at once, worse by the end of the day and after exertion. Muscle pain joins it over time, because the muscles are doing the ligaments' job and are permanently braced.
• Stretchy skin. It can be lifted noticeably further than usual and settles back gently. It feels velvety.
• Fragile skin and bruising. Grazes and cuts happen over nothing, particularly on the forehead, knees, shins and elbows. Bruises appear where nobody remembers a knock.
• Poor healing. Stitches cut through, and scars spread sideways until they look as thin as cigarette paper.
• Exhaustion. One of the hardest signs to live with and one of the least understood by everyone around: there is not enough energy for an ordinary day, and sleep does not restore it.
• Trouble in other organs. Heartburn, bloating, constipation or unpredictable bowels, a racing heart and greying vision on standing, a weak pelvic floor with leaking urine, prolapse and hernias.

Not one illness but a whole family of them

More than a dozen types have been described, and almost all of them are extremely rare. In practice the conversation usually concerns a handful.

Hypermobile type is the commonest. Joints dominate the picture: excess movement, dislocations, chronic pain, fatigue. The skin is soft and bruises readily, but does not tear as willingly as in other versions. Digestive trouble and bouts of palpitations on standing often travel with it. Its peculiarity is that the gene behind it has still not been found: no test can confirm it, and the diagnosis rests on the clinical picture and the family history.

Classical type hits the skin above all: it is markedly stretchy and velvety, tears easily and leaves wide, sunken scars. Joints move too far as well. Hernias and prolapse are not unusual.

Vascular type is the dangerous one and has a section of its own below.

Kyphoscoliotic type shows itself early: muscle tone is poor from birth, so the baby is late to sit and to walk, and within the first few years a curvature of the spine appears that worsens in the teenage years. It has a further feature of its own, fragility of the eyeball: a knock that would leave anyone else unharmed can here cause a serious eye injury.

Set apart from all of this is hypermobility without disease. Joints with a generous range of movement are a normal variant and not particularly unusual, and suppleness on its own means nothing. When pain, dislocations and exhaustion are added to it but no features of any specific type are present, the term used is joint hypermobility syndrome. It is managed exactly as the hypermobile type is, and it is not a lesser diagnosis: it earns the same proper care.

The vascular type, which cannot be passed over

This is the rarest and the most serious form. Here the fault lies in the collagen from which the walls of arteries and hollow organs are built. A vessel, a length of bowel or the womb can rupture with no injury behind it, and bleeding of that kind moves fast.

Certain outward features help raise the suspicion: very thin, almost see-through skin with visible veins over the chest and abdomen, extensive bruising, a narrow nose, thin lips, large eyes, small earlobes, and excess movement confined to the small joints of the fingers. Unlike the other types, this one does have a genetic test that confirms the diagnosis.

Call an ambulance immediately (in Spain, Italy, Portugal, Poland and Ukraine the single European number 112 is in use) if someone with confirmed or suspected vascular type develops:

• sudden severe pain in the abdomen, chest, back or side;
• abrupt weakness, pallor, cold sweat, fainting;
• a rapidly growing painful swelling on a limb or the neck;
• blood in the stools or vomiting blood;
• sudden breathlessness or sharp pain on breathing.

Doctors need to be told about this type in advance: before any operation, endoscopy, catheter insertion or dental procedure, and in pregnancy and childbirth. Many patients are given a card or a bracelet stating the diagnosis, which if they are unconscious is the only way of getting the essential fact to the medical team. As for medication, one particular beta blocker is used in the vascular type and has been shown to reduce the frequency of arterial ruptures. Anything that affects clotting, including the familiar anti-inflammatory painkillers, is taken only in agreement with a doctor.

What happens at the appointment and which tests are needed

The diagnosis begins with a conversation and an examination, not with a blood test. The doctor asks how far back the complaints go, whether there have been dislocations, how wounds heal, whether parents or siblings have similar stories, and whether the family has known sudden deaths in young people or ruptured blood vessels. Joint movement is then measured on a standard scale, and the stretchiness of the skin and the appearance of scars are assessed.

What follows depends on the type being considered. Joint complaints lead to a referral to a rheumatologist. If the picture points to a rare and dangerous version, the referral goes to a genetics service, where the family tree is worked through and blood is taken for genetic testing. That test confirms almost every type except the hypermobile one. A negative result where the hypermobile type is suspected does not cancel the diagnosis, and it is worth knowing that beforehand so the laboratory report is not read as a refusal of help. Depending on the case, an ultrasound scan of the heart and blood vessels is added, and in some types it is repeated to a fixed schedule.

When to see a doctor and when there is nothing to worry about

There is reason to look into things when several features coincide: bendy joints, repeated dislocations, long-standing pain, unexplained bruising, oddly wide scars, an early curvature of the spine in a child. A separate and weighty reason is a vascular catastrophe in a young relative, or the rupture of an internal organ in the family with no explanation behind it.

If, on the other hand, a person is simply supple, nothing hurts and nothing slips out of place, there is no illness to hunt for. Flexibility without symptoms needs no treatment.

What genuinely helps

No medicine can correct the gene. That does not mean there is nothing to be done: well-organised care changes daily life considerably and heads off complications.

• Work with a physiotherapist. The foundation of everything. When the ligaments will not hold a joint, the muscles have to. What is needed is gentle strengthening and postural control work, without pushing joints past the straight line and without sharp stretches. The programme is designed for the individual: a routine copied off the internet can do harm here.
• Sensible activity. Swimming, walking, pilates and cycling on level ground suit most people. Weightlifting, contact sports, jumping and extreme flexibility work do not. The point is not to avoid movement but to choose different movement.
• Braces and protection. Supports, taping, insoles and knee braces relieve the most troublesome joints, but they are worn as advised and not around the clock, or the muscles weaken further still.
• Pain control. The regimen is set by a doctor. In long-standing pain the strength of the drug matters less than the combination of moderate activity, sleep, pacing and psychological work: cognitive behavioural therapy does as much for persistent pain as tablets do.
• Occupational therapy. The therapist shows how to open a jar, hold a phone, set up a desk and get dressed without loading the joints, and suggests whatever aids are useful.
• Budgeting energy. Where exhaustion dominates, people learn to spread the day out so that a good afternoon is not paid for with a week in bed.
• Keeping an eye on the organs. In the types that involve the vessels and the heart, regular scans are needed to the timetable the specialist sets.
• Warning surgeons and dentists. Tissues hold stitches poorly, local anaesthetic sometimes works less well than expected, and the skin is injured by sticking plaster alone. The diagnosis has to be known before anything starts.

Whether it passes to children

Most types, the hypermobile, classical and vascular among them, are inherited in a dominant fashion: the altered gene from one parent is enough, and the chance of passing it to each child is one in two. The kyphoscoliotic type is inherited recessively, so a child is affected only if the altered gene comes from both parents; the chance in each pregnancy is one in four, and the parents themselves are well.

Only one's own type can be passed on: a parent with the hypermobile type cannot have a child with the vascular type. Severity, however, varies widely within a single family — in the mother it went no further than flexible fingers, while the daughter lives with constant pain. Couples planning a family are seen separately by a geneticist, who goes through the options with them, including testing before pregnancy.

Online consultation

A remote appointment is a good way to take the first step: to see whether scattered complaints fit into a single picture. The doctor will ask in detail about joint movement, dislocations, the character of the pain, bruising, scars, how the bowels behave, palpitations on standing and the family history, will explain what falls within normal variation and what deserves investigation, and will say which specialist to approach and with which questions. It is also a good setting for going over reports already issued: what the genetic result means, why it comes back with no findings in the hypermobile type, which tests need repeating and how often. Everyday matters get discussed too — how much activity is wise, how to shape a day when fatigue rules it, what to tell a surgeon before an operation. The features listed under the vascular type are not assessed on a screen: they call for an ambulance straight away.

This material is for information only and does not replace medical advice.