Questions and answers about heritable disorders of connective tissue - Health Topics - Pamphlet

Pamphlet by: Nat'l Inst. of Arthritis and Musculoskeletal & Skin Diseases, July 1, 2001

The skin can be affected as well. Ehlers-Danlos syndrome results in stretchy or loose skin, while in the disease cutis laxa, deficient elastic fibers cause the skin to hang in folds. Epidermolysis bullosa results in blistered skin. Pseudoxanthoma elasticum causes skin, eye, and heart problems, and closed-off or blocked blood vessels. Marfan syndrome and some forms of Ehlers-Danlos syndrome lead to weak blood vessels. Some disorders cause people to be unusually tall (Marfan syndrome) or short (chondrodysplasias, osteogenesis imperfecta), or to have head and facial structure malformations (Apert syndrome, Pfeiffer syndrome).

It is critical for affected individuals and their family members to work closely with their health care teams. Symptoms of HDCTs are extremely variable, and some disorders can pose severe health risks even when affected individuals have no symptoms.

How Do Doctors Diagnose HDCTs?

Diagnosis always rests first on a combination of family history, medical history, and physical examination. Because many of these conditions are uncommon, the family physician may suspect a diagnosis but be uncertain about how to confirm it. At this point, referral to experienced clinicians, often medical geneticists, can be extremely valuable either to confirm or to exclude the suspected diagnosis. Laboratory tests are available to confirm the diagnosis for many HDCTs, but not for all.

Once a diagnosis is made, laboratory studies may be available to provide some or all of the following:

* Prenatal testing to identify an affected fetus to assist in family planning.

* Newborn screening to spot a condition that may become evident later in life.

* Carrier testing to identify adults who, without symptoms, carry a genetic mutation for a disease.

* Predictive testing to spot people at risk for developing a genetic connective tissue disease later in life. These tests are helpful for diseases that run in the family.

What Treatments Are Available?

Each disorder requires a specific program for management and treatment. In most instances, regular monitoring is important to assess, for example, diameter of the aorta in people with Marfan syndrome, extent of scoliosis (spine curvature) in people with OI or some forms of EDS, and whether there is protrusion of the spine into the base of the skull in people with OI. For some conditions, specific metabolic treatment is useful (for example, vitamin B6 in people with homocystinuria, a metabolic disorder resulting from a liver enzyme deficiency). In others, systemic treatment with drugs like beta blockers is appropriate. Maintaining general health is also important for people with all HDCTs, as is staying in touch with specialists who will be aware of emerging new treatments.

What Research Is Being Done on HDCTs?

Scientists are working to better understand these disorders at several levels: (1) to identify the genes in which the mutations reside, (2) to identify the mutations that result in the condition, (3) to understand how these mutations result in the clinical condition, and (4) to use all available information about the condition to plan new therapies and to test their use and value, both in animal models and in affected individuals. Because most of these conditions are uncommon, and individuals with them are widely scattered, it is often difficult to gather information about the clinical course of the disorder and to assemble enough people to plan effective clinical trials. In addition, genetic changes can sometimes be influenced by lifestyle and environment.