Kyphoscoliosis Ehlers-Danlos (formerly called EDS type
VI)
Characteristics. It is the
only EDS with Autonomic Recessive Inheritance and is characterized because the
newborn can have severe muscular weakness and scoliosis or develop it during the
first year of life. They also present joint hypermobility, recurrent
sub-luxations, and friable, lax skin, with frequent ecchymoses and with ocular
problems, consisting in fragility of the sclera, with occasional rupture of the
ocular globe. Some may have marfanoid habitus. Another possible complications
are rupture of medium size arteries and these children may have poor
development of muscular tone. One hundred percent of them have osteoporosis. It
is a rare disease, seen in 1 out of 100,000 born alive children.
Since
it has Autonomic Recessive Inheritance, both parents are heterozygotes. The
altered gene is the PLOD that is localized at 1p36.3-p36.2 and is a protein,
the Procollagen-Lysine, 2 Oxoglutarate, 5 Dioxygenase. The parents
(heterozygotes), that are asymptomatic, have only one copy of the altered gene
PLOD that causes the illness. Siblings
have 25% chances to get the illness, 50% chances to be asymptomatic carriers
and only 25% chances to be healthy and not carriers. The children of patients
with Kyphoscoliosis EDS are heterozygotes and their children have 50% chances
to be also heterozygotes.
Diagnostic criteria for the Kyphoscoliosis EDS.
A.- Mayor signs:
-
Friable, thin, hiperextensible skin with frequent
ecchymoses.
-
Generalized joint hypermobility.
-
Severe muscle weakness, as a newborn.
-
Progressive scoliosis present at birth or during the
first year of life.
-
Fragility of the sclerae or rupture pf the ocular
globe.
B.- Minor signs:
-
Atrophic or wide surgical scars.
-
Marfanoid habitus.
-
Medium size artery rupture.
-
Mild or moderate delay in achieving the normal motor
strength.
For making the
diagnosis. The presence of 3 mayor signs
is highly suggestive of the diagnosis of Kyphoscoliosis EDS.
Diagnostic
confirmation. Increase value
of the ratio between the urinary deoxypiridinoline and piridinoline, measured
by the HPLC (a very sensitive and specific test). The genetic confirmation is
possible only as a research tool and not available in private practice.
Treatment.
Of the musculo-skeletal problem:
-
Orthopedist referral
for treatment of the Kyphoscoliosis, which at times requires surgical
correction.
-
Physiotherapy
referral to increase strength of the big muscles, like the shoulder girdle, to
prevent recurrent shoulder subluxations.
Of the cardiovascular problem:
-
Measure the aortic
root dilatation with an ECO., starting at age 5 and repeating the test every 5
years if the test is negative. Yearly when dilation exists.
-
Prophylactic
treatment of the mitral valve prolapse.
-
Careful observation
of the blood pressure, reducing it in order to prevent arterial ruptures
(Losartan). Vascular surgery is dangerous, due to arterial wall fragility.
Of the ocular
problem:
Early
detection of Myopia and Glaucoma are important.
Of
others problems:
-
Early
detection of inguinal hernias, for surgical treatment.
-
The use
of vitamin C can increase hydroxilysine excretion and improve muscle strength,
it also improves scar cicatrisation. Doses are from 500 mg a day in children up
to 10 gm a day in adults.
-
Good hydration
is needed to prevent oxalic nephrolitiasis.
Jaime
F. Bravo, MD.
Rheumatology
– Osteoporosis
Revised:
July 12th, 2007