Medical Care in Adulthood

Medical Care in Adulthood

Most people with CdLS reach adulthood because of improved care, especially in the first year of life. Several individuals with CdLS have lived to 50+ years of age (²³,⁶⁷). Many medical disciplines tend to be involved in the medical care of adults with CdLS. As many disciplines are involved, it is important that there is co-ordination in care.

Can individuals with CdLS have children?

A small number of women with CdLS have given birth. Often, mothers have only been diagnosed after their child has been diagnosed with CdLS (³,³⁶,⁴¹,⁶⁸). Few men with CdLS have fathered a child, though there is little data about fertility in males with CdLS (⁶⁹,⁷⁰ 70). Sexual education should be offered to individuals with CdLS and education should be appropriate to the level of understanding. Contraceptive options are the same as for the general population (R20).

For some women with CdLS it may be preferable to control or prevent menstruation. There are several contraceptives that can do this. Hysterectomies are not recommended as a primary method of contraception in CdLS. A hysterectomy is a surgical procedure to remove the womb and means the woman can no longer become pregnant. However, a woman with CdLS may have a hysterectomy to treat unusually heavy periods which do not respond to treatment (R21).

Premenstrual syndrome (physical and emotional symptoms occurring before a period) and menstrual period pain occur in women with CdLS and can be associated with behavioural changes. Treatment options are the same as in the general population. It is not known if women with CdLS undergo menopause.

Weight Management in Adulthood

Some adults with CdLS are overweight and may be obese (⁴⁹,⁵⁹). Close attention should be paid to ensuring a healthy, low calorie diet and physical activity is encouraged (R22).

A very small number of adults with CdLS develop type 2 diabetes (²). Type 2 diabetes is a common condition that causes high sugar (glucose) levels in the blood, resulting in excessive thirst and tiredness. Individuals who are overweight have a higher risk of developing type 2 diabetes.

How are the Organs Affected in Adults with CdLS?

Organ involvement in adults with CdLS is similar to that seen in children with CdLS. Heart defects are common in CdLS and around 1 in 4 children with CdLS are born with a heart condition. These are usually detected in infancy or childhood. Typically, heart defects do not cause unexpected complications in adulthood. A small number of individuals with CdLS may have hypertension (high blood pressure) or heart failure (where the heart is unable to pump blood around the body properly) (²,⁷³). A very small number of individuals with CdLS have been reported to have a heart attack or stroke (⁷³).

It has been identified that a number of individuals with CdLS have structural differences in their kidneys. Even so, kidney failure has only been reported in 1% of individuals with CdLS (⁷³). The kidneys are responsible for filtering waste products from the blood, alongside regulating blood pressure, electrolyte balance and red blood cell production. When there are structural differences in the kidneys, they may not be able to function properly. Kidney function should be monitored regularly in children and adults with CdLS who have structural kidney malformations (R23).

Prostate enlargement has been found in 10% of men with CdLS by the age of 41 years. The prostate is a small gland located between the penis and the bladder. Enlargement of the prostate can cause difficulty with urination. Prostate enlargement is common in men aged over 50 in the general population (⁷⁵). Prostate enlargement in men with CdLS should be assessed earlier and treated according to national guidelines for the general population (R24).

Risk of Cancer in CdLS

There is no increased risk of cancer at a young age in CdLS in comparison to the general population. It is unclear whether there is an increased risk of cancer for middle-aged and older individuals with CdLS. Cancer of the oesophagus has been reported in three individuals with CdLS who had Barrett’s oesophagus. This can be caused by Gastro-oesophageal reflux disease (GORD) which is common in CdLS. GORD is a condition in which a weakness in the muscles above the stomach allows stomach acid to travel into the oesophagus. Over many years, stomach acid can cause changes in cells lining the oesophagus. This is called Barrett’s oesophagus. These abnormal cells are at increased risk of becoming cancerous.

Women with CdLS should be offered cervical and breast cancer screening according to national guidelines for the general population (⁷⁷,⁷⁸) (R25, R26).

Causes of Death in CdLS

The most common causes of death in infants with CdLS are congenital diaphragmatic hernia (hole in the diaphragm) and respiratory (breathing) problems. In children with CdLS, the most common causes of death are heart defects and respiratory and gastrointestinal (stomach/intestines) problems (⁷³).

Causes of death in adults with CdLS relate to gastrointestinal, pulmonary (lung) and cardiac (heart) systems, as well as infections or anaesthesia (medically induced loss of sensation) (²,⁶⁷,⁷³,⁷⁹).

Several countries use emergency medical cards which report the main clinical data of the patient. The use of these emergency cards should be considered for every person with CdLS (R27). Emergency cards can report the most frequent and potentially life-threatening medical complications of CdLS.

Antonie D. Kline, Joanna F. Moss, […]Raoul C. Hennekam

_{Adapted from: Kline, A. D., Moss, J. F., Selicorni, A., Bisgaard, A., Deardorff, M. A., Gillett, P. M., Ishman, S. L., Kerr, L. M., Levin, A. V., Mulder, P. A., Ramos, F. J., Wierzba, J., Ajmone, P.F., Axtell, D., Blagowidow, N., Cereda, A., Costantino, A., Cormier-Daire, V., FitzPatrick, D., Grados, M., Groves, L., Guthrie, W., Huisman, S., Kaiser, F. J., Koekkoek, G., Levis, M., Mariani, M., McCleery, J. P., Menke, L. A., Metrena, A., O’Connor, J., Oliver, C., Pie, J., Piening, S., Potter, C. J., Quaglio, A. L., Redeker, E., Richman, D., Rigamonti, C., Shi, A., Tümer, Z., Van Balkom, I. D. C. and Hennekam, R. C. (2018).}

Source:

Diagnosis and management in Cornelia de Lange Syndrome: First international consensus statement. Nature Reviews Genetics, 19, 649-666, published on 11 Jul 2018

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Last modified by Gerritjan Koekkoek on 2022/09/29 16:10

Created by Gerritjan Koekkoek on 2019/03/27 15:09