General: There is currently no cure for DiGeorge syndrome (DGS). Supplements with calcium and vitamin D are used to manage an underactive parathyroid gland. A bone marrow transplant may help boost the immune system. Early thymus transplantations are controversial, because their safety and effectiveness remain unclear.
Bone marrow transplant (BMT): Bone marrow transplants (BMTs) have been conducted, with varying results. In studies, some patients experienced a boost in their immune systems after a BMT. However, it is unknown whether these patients had partial DGS. Patients who have partial DGS may experience spontaneous improvements in T cell functioning.
Calcium supplements: Calcium supplements are typically given to patients who have an underactive parathyroid gland. Calcium gluconate (Kalcinate®) has been administered intravenously (injected into the vein) to prevent seizures associated with low levels of calcium. Alternatively, calcium carbonate (Os-Cal®, Titralac®, Oystercal,® or Caltrate®) has been taken by mouth.
Early thymus transplant: It remains unknown whether an early thymus transplant is safe and beneficial for patients with DGS. During this procedure, the thymus gland of a fetus is surgically transplanted into a young DGS patient. The transplanted thymus tissue is taken from a newborn who received heart surgery. During heart surgery, a small amount of thymus tissue must be removed in order for the surgeon to reach the heart. Instead of discarding the thymus tissue, it can be transplanted into a newborn with DGS. It is recommended that the transplant be conducted before complications of infections develop.
Patients who have partial DGS do not require thymus transplants because their T cells may spontaneously improve.
Vitamin D supplements: Vitamin D supplements are typically given to patients who have an underactive parathyroid gland. Supplementation with vitamin D helps the body absorb more calcium, which subsequently helps prevent seizures in DGS patients. A liquid solution called ergocalciferol (vitamin D2) (Drisdol®) has been taken by mouth along with calcium supplements.
: Currently, there is insufficient evidence available on the safety and effectiveness of integrative therapies for the prevention or treatment of DiGeorge syndrome. The therapies listed below have been studied for related conditions, including seizure-related conditions, hypoparathyroidism, pseudohypoparathyroidism, and immune-related conditions. The therapies listed below should be used only under the supervision of a qualified healthcare provider and should not be used in replacement of other proven therapies or preventive measures.
Strong scientific evidence
Vitamin D: The major biologic function of vitamin D is to maintain normal blood levels of calcium and phosphorus. Vitamin D aids in the absorption of calcium, which may prevent seizures. High oral doses of the vitamin D analogs dihydrotachysterol (DHT), calcitriol, and ergocalciferol can assist in increasing serum calcium concentrations in people with hypoparathyroidism or pseudohypoparathyroidism.
Vitamin D is generally well tolerated in recommended doses; doses higher than those recommended may cause toxic effects. Vitamin D is considered safe in pregnant and breastfeeding women when taken in recommended doses. Use cautiously with hyperparathyroidism (overactive parathyroid), diabetes, low blood pressure, kidney disease, liver disease, or granulomatous disorders (a type of immune disorder), or in mothers who are receiving vitamin D supplements and who are breastfeeding. Avoid if allergic or hypersensitive to vitamin D or any of its components, or with vitamin D hypersensitivity syndromes. Avoid in patients with hypercalcemia (high blood calcium levels).
Good scientific evidence
Calcium: Calcium is an alkaline earth metal and is the most abundant mineral in the body. Patients who have an underactive parathyroid gland have problems regulating the amount of calcium in the blood, resulting in low levels of calcium. Supplementation with calcium may decrease the risk of seizures. According to case reports, nutritional deficiencies, including low levels of calcium, may lead to changes in the electrical patterns of the brain and may increase the risk of seizures. Correcting calcium to normal levels in cases of hypocalcemia (low levels of calcium in the blood) may be necessary. Further research is warranted.
Avoid if allergic or hypersensitive to calcium or lactose. High doses taken by mouth may cause kidney stones. Avoid with hypercalcemia (high levels of calcium in the blood), hypercalciuria (high levels of calcium in urine), hyperparathyroidism (high levels of parathyroid hormone), bone tumors, digitalis toxicity, ventricular fibrillation (when the ventricles of the heart contract in an unsynchronized rhythm), kidney stones, kidney disease, or sarcoidosis (inflammation of lymph nodes and various other tissues). Calcium supplements made from dolomite, oyster shells, or bone meal may contain unacceptable levels of lead. Use cautiously with achlorhydria (an absence of hydrochloric acid in gastric juices) or arrhythmia (irregular heartbeat). Calcium appears to be safe in pregnant or breastfeeding women, who should talk to a healthcare provider to determine appropriate dosing.
Ginseng: The predominant pharmacologically active constituents of Panax are ginsenosides. Individuals with an absent or underdeveloped thymus gland have a weakened immune system and are prone to infections. Ginseng seems to stimulate T cell and polymorphonuclear (PMN) leukocyte activities, increase clearance of bacterial infections treated with antibiotics, and improve the immune response to, and efficacy of, influenza immunization.
Use cautiously in patients taking agents that raise or lower blood pressure, in patients with diabetes or hypoglycemia or those taking agents that affect blood sugar, in patients with immune disorders or those using immunosuppressants, in patients using agents that may increase the risk of abnormal heart rhythms, in patients with fair skin or those using light-sensitizing agents, in patients with mental health disorders, in patients taking opiates, in patients prone to seizures, in patients using alcohol, in patients with sleep or "heat" disorders, and in children. Use cautiously during the perioperative period. Avoid in patients with bleeding disorders or those taking agents that may increase the risk of bleeding. Avoid in patients with known allergy or sensitivity to Panax species, their constituents, or to other members of the Araliaceae family. Avoid in pregnant or breastfeeding women. Avoid use of large amounts in infants. Over-the-counter combination products containing ginseng may be contaminated with phenylbutazone and aminopyrine.
Probiotics: Probiotics are beneficial bacteria (sometimes referred to as "friendly germs") that help to maintain the health of the intestinal tract and aid in digestion. Probiotic bacteria have been found to stimulate the body's immune system.
Probiotics are generally considered safe and well tolerated. Use cautiously in patients prone to infections or those with compromised immune systems, such as those with HIV/AIDS, or in infants born prematurely or those with immune deficiency. Use cautiously in patients with gastrointestinal disorders or in those sensitive or intolerant to dairy products containing probiotics or to lactose. Avoid with known allergy or sensitivity to probiotics.
Zinc: Zinc is necessary for the functioning of more than 300 different enzymes and plays a vital role in a large number of biological processes. Its immune-enhancing activities include regulation of T lymphocytes, CD4 cells, natural killer cells, and interleukin-2. In addition, it has been claimed that zinc possesses antiviral activity. Zinc gluconate appears to have beneficial effects on immune cells.
Zinc is generally considered safe when taken at the recommended dosages. Use amounts regularly exceeding the recommended upper tolerance levels (greater than 40 milligrams daily) under a physician's guidance only. Use cautiously in patients with bleeding disorders, diabetes, or low blood sugar levels, or in patients taking agents for these conditions. Use cautiously in patients with high cholesterol or blood fats, a high risk of developing heart disease, various skin disorders, gastrointestinal disorders, liver disease, genitourinary conditions, blood disorders, neurological disorders, pulmonary or respiratory disorders, immune disorders, or kidney disease, or in patients taking antidepressants, potassium-sparing diuretics, antibiotics (particularly tetracyclines and quinolones), iron, penicillamine, thyroid hormones, or copper. Avoid in patients who are homozygous for hemochromatosis (a metabolic disorder involving the deposition of iron-containing pigments in the tissues and characterized by bronzing of the skin, diabetes, and weakness) or with a known allergy or hypersensitivity to zinc compounds. Avoid use of intranasal Zicam®.
Currently, there is no known method to prevent DiGeorge Syndrome (DGS).
Patients should take precautions to avoid contracting infections associated with the disease, such as thoroughly washing their hands with soap and water. Patients should talk to their healthcare providers about recommended immunizations. Patients should avoid close contact with individuals who have contagious illnesses, because they have an increased risk of contracting infections.
Patients who have the disorder may wish to receive genetic counseling. A counselor will provide information and answer questions about the risk of passing the disorder on to the patient's children.