eMedicine Specialties > Pediatrics: General Medicine > Allergy & Immunology
Cartilage-Hair Hypoplasia: Treatment & Medication
Updated: May 19, 2009
- Overview
- Differential Diagnoses & Workup
- Treatment & Medication
- Follow-up
- Multimedia
Treatment
Medical Care
The treatment of the immunodeficiency depends on whether an isolated T-cell defect, isolated B-cell defect, or a combined T-cell and B-cell immunodeficiency is present. Some patients with cartilage-hair hypoplasia have only a limited susceptibility to infections, thus need no specific treatment.
Individuals with an isolated T-cell immunodeficiency have an increased susceptibility to infections, and varicella is the most common, severe, life-threatening infection. Acyclovir is recommended in the treatment of varicella infections. In patients exposed to varicella, prophylaxis with varicella-zoster immune globulin (VZIG), acyclovir, or both can be administered. In the United States, VZIG was discontinued by the manufacturer. An investigational product (VariZIG) is currently available via investigational new drug protocol (contact FFF Enterprises at 800-843-7477). However, prophylaxis with acyclovir in other patients with T-cell impairment who are exposed to varicella may not prevent varicella infection.
An attenuated varicella vaccine has been developed as a routine part of childhood immunizations. Some investigators have recommended this vaccine in patients with near-normal T-cell function and normal B-cell function. In this situation, the varicella vaccine may have some protective role in patients with cartilage-hair hypoplasia. However, because it is a live vaccine, it may result in vaccine-related varicella infection. Guidelines for the administration of the vaccine have been established by the Centers for Disease Control and Prevention.20
In patients with cartilage-hair hypoplasia with antibody immunodeficiency and recurrent bacterial infections, antibody replacement therapy in the form of intravenous immunoglobulin (IVIG) or, alternatively, subcutaneous gammaglobulin (SCGG) therapy is indicated.
Patients with a severe T-cell immunodeficiency with or without concomitant B-cell immunodeficiency are given the same treatment as patients with severe combined immunodeficiency (SCID). Thus, T-cell immune reconstitution using bone marrow transplantation (BMT) is performed. BMT corrects the immunodeficiency but not the skeletal abnormalities.21 Three patients with cartilage-hair hypoplasia and SCID underwent successful immune reconstitution with BMT.22 The 3 patients underwent transplantation during infancy and received pretransplant conditioning. One of the 3 patients received a related donor transplant, whereas the other 2 patients received matched unrelated donor transplants. The patients’ immune systems were fully reconstituted. The transplantation did not affect the skeletal dysplasia. Hopefully, BMT can prevent lymphoma.
Treatment of neutropenia with granulocyte colony-stimulating factor (G-CSF) has been successful in patients with cartilage-hair hypoplasia.14 Neutropenia is a common feature in individuals with cartilage-hair hypoplasia, occurring as frequently as 27% in a group of 79 Finnish children. The typical mechanism is maturation arrest, but autoimmune neutropenia also occurs. The severity of the neutropenia correlates with the severity of the immunodeficiency and, therefore, contributes to the increased frequency and severity of infections in patients with cartilage-hair hypoplasia. Ammann et al reported that a 3-year-old Japanese boy with cartilage-hair hypoplasia and autoimmune anti-FcgRIIIb (NA 1/2) neutropenia was treated with G-CSF, which improved the boy’s peripheral neutrophil numbers and reduced recurrent bacterial infections.14
Conflicting results have been reported in the use of growth hormone to treat 5 patients with cartilage-hair hypoplasia. In a 3-year-old Japanese boy who was treated with growth hormone for 7 years and underwent a leg-lengthening surgical procedure, the height improved from -4.2 standard deviations (SD) to -2.1 SD.23 In another report of 4 patients with cartilage-hair hypoplasia, growth hormone was used to treat 4 patients, consisting of 2 pairs of siblings: a pair of 10-year-old twins (one boy, one girl) and a 7-year-old girl and her 4-year-old sister.24 The duration of growth hormone therapy was 5 years, 2 years, 5 years, and 6.5 years, respectively. Slight improvement of growth was reported during the first year of growth hormone treatment, varying from 0.2-0.8 SD, but the growth was not sustained, and no gain in final height was reported.
Surgical Care
Various palliative bone reconstruction procedures have been performed in patients with other short-limb dwarfism disorders. These can also be performed in patients with cartilage-hair hypoplasia. However, the risk of infection in these patients is increased, and extra attention to preventing and treating infections is necessary.
Consultations
Consult an immunologist to evaluate for immune deficiency. In addition, an orthopedic surgeon should be consulted for bone dysplasia. A geneticist should also be consulted.
Diet
No dietary restrictions apply.
Activity
Skeletal dysplasia significantly impairs the normal activity of these patients. Care directed by orthopedists and physical therapists is necessary to monitor and treat these limitations.
Medication
Replacement therapy with intravenous immunoglobulin in patients with primary immune deficiencies
The overall consensus among clinical immunologists is that intravenous immunoglobulin (IVIG) administered at a dose of 400-600 mg/kg/mo or a dose that maintains trough serum immunoglobulin (Ig)G levels of more than 500 mg/dL is desirable.25,26 Patients with X-linked agammaglobulinemia and meningoencephalitis require much higher doses (1 g/kg) and, perhaps, intrathecal therapy. The measurement of preinfusion (trough) serum IgG levels every 3 months until a steady state is achieved and then every 6 months if the patient is stable may be helpful in adjusting the dose of IVIG to achieve adequate serum levels. For persons who have a high catabolism of infused IgG, more frequent infusions (eg, every 2-3 wk) of smaller doses may maintain the serum level within the reference range. The rate of elimination of IgG may be higher during a period of active infection; measuring serum IgG levels and adjusting to higher dosages or shorter dosing intervals may be required.
For replacement therapy in patients with primary immune deficiency, all brands of IVIG are probably equivalent, although viral inactivation processes differ (eg, solvent detergent vs pasteurization and liquid vs lyophilized). The choice of brand depends on the hospital or home care formulary and local availability and cost. The dose, manufacturer, and lot number should be recorded for each infusion to review for adverse events or other consequences. Recording all adverse effects that occur during the infusion is crucial. Monitoring liver and renal function test results periodically, approximately 3-4 times annually, is also recommended.
The US Food and Drug Administration (FDA) recommends that, in patients at risk for renal failure (eg, preexisting renal insufficiency, diabetes, volume depletion, sepsis, paraproteinemia, age >65 y, use of nephrotoxic drugs), recommended doses should not be exceeded, and infusion rates and concentrations should be administered at the minimum levels that are practicable.
Initial treatment should be administered under the close supervision of experienced personnel. The risk of adverse reactions in initial treatments is high, especially in patients with infections and in those who form immune complexes. In patients with active infection, infusion rates may need to be slower and the dose may need to be halved (ie, 200-300 mg/kg), with the remaining dose administered the next day to achieve a full dose. Treatment should not be discontinued. After achieving serum IgG levels within reference range, adverse reactions are uncommon, unless patients have active infections.
Adverse affects associated with the new generation of IVIG products have been greatly reduced and include tachycardia, chest tightness, back pain, arthralgia, myalgia, hypertension or hypotension, headache, pruritus, rash, and low-grade fever. More serious reactions include dyspnea, nausea, vomiting, circulatory collapse, and loss of consciousness. Patients with more profound immunodeficiency or patients with active infections have more severe reactions.
Anticomplementary activity of IgG aggregates in the IVIG, and the formation of immune complexes are thought to be related to the adverse reactions. Another cause is the formation of oligomeric or polymeric IgG complexes that interact with Fc receptors and trigger the release of inflammatory mediators. Most adverse reactions are rate related. Slowing the infusion rate or discontinuing therapy until symptoms subside may diminish the reaction. Pretreatment with ibuprofen (5-10 mg/kg every 6-8 h), acetaminophen (15 mg/kg/dose), diphenhydramine (1 mg/kg/dose), hydrocortisone (6 mg/kg/dose, maximum 100 mg), or a combination 1 hour before the infusion may prevent adverse reactions. In some patients with a history of severe adverse effects, analgesic and antihistamine administration may be repeated.
Acute renal failure is a rare but significant complication of IVIG treatment. Reports suggest that IVIG products using sucrose as a stabilizer may be associated with a greater risk for this renal complication. Acute tubular necrosis, vacuolar degeneration, and osmotic nephrosis suggest osmotic injury to the proximal renal tubules. The infusion rate for sucrose-containing IVIG should not exceed 3 mg sucrose per kg/min. Risk factors for this adverse reaction include preexisting renal insufficiency, diabetes mellitus, dehydration, age older than 65 years, sepsis, paraproteinemia, and concomitant use of nephrotoxic agents. For patients at an increased risk, monitoring BUN and creatinine levels before starting the treatment and prior to each infusion is necessary. If renal function deteriorates, the product should be discontinued.
IgE antibodies to IgA have been reported to cause severe transfusion reactions in patients with IgA deficiency. True anaphylaxis has been reported in patients with selective IgA deficiency and common variable immunodeficiency who developed IgE antibodies to IgA after treatment with immunoglobulin. However, this is rare. In addition, this is not a problem in patients with X-linked agammaglobulinemia (Bruton disease) or severe combined immunodeficiency (SCID). Exercise caution in patients with IgA deficiency (<7 mg/dL) who require IVIG administration because of IgG subclass deficiencies. IVIG preparations with low concentrations of contaminating IgA are advised (see the Table below).
Immune Globulin, Intravenous27,28,29,30
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Table
| Brand(Manufacturer) | Manufacturing Process | pH | Additives* | Parenteral Form and Final Concentrations | IgA Content (mcg/mL) |
| Carimune NF (CSL Behring) | Kistler-Nitschmann fractionation; pH 4, nanofiltration | 6.4-6.8 | 6% solution: 10% sucrose, <20 mg NaCl/g protein | Lyophilized powder 3%, 6%, 9%, 12% | Trace |
| Flebogamma (Grifols USA) | Cohn-Oncley fractionation, PEG precipitation, ion-exchange chromatography, pasteurization | 5.1-6 | Sucrose free, contains 5% D-sorbitol | Liquid 5% | <50 |
| Gammagard Liquid 10% (Baxter Bioscience) | Cohn-Oncley cold ethanol fractionation, cation and anion exchange chromatography, solvent detergent treated, nanofiltration, low pH incubation | 4.6-5.1 | 0.25M glycine | Ready-for-use liquid 10% | 37 |
| Gamunex (Talecris Biotherapeutics) | Cohn-Oncley fractionation, caprylate-chromatography purification, cloth and depth filtration, low pH incubation | 4-4.5 | Does not contain carbohydrate stabilizers (eg, sucrose, maltose), contains glycine | Liquid 10% | 46 |
| Iveegam EN (Baxter Bioscience) | Cohn-Oncley fraction II/III; ultrafiltration; pasteurization | 6.4-7.2 | 5% solution: 5% glucose, 0.3% NaCl | Lyophilized powder 5% | <10 |
| Polygam S/D Gammagard S/D (Baxter Bioscience for the American Red Cross) | Cohn-Oncley cold ethanol fractionation, followed by ultracentrafiltration and ion exchange chromatography; solvent detergent treated | 6.4-7.2 | 5% solution: 0.3% albumin, 2.25% glycine, 2% glucose | Lyophilized powder 5%, 10% | <1.6 (5% solution) |
| Octagam (Octapharma USA) | Cohn-Oncley fraction II/III; ultrafiltration; low pH incubation; S/D treatment pasteurization | 5.1-6 | 10% maltose | Liquid 5% | 200 |
| Panglobulin (Swiss Red Cross for the American Red Cross) | Kistler-Nitschmann fractionation; pH 4 incubation, trace pepsin, nanofiltration | 6.6 | Per gram of IgG: 1.67 g sucrose, <20 mg NaCl | Lyophilized powder 3%, 6%, 9%, 12% | 720 |
| Privigen Liquid 10% (CSL Behring) | Cold ethanol fractionation, octanoic acid fractionation, and anion exchange chromatography; pH 4 incubation and depth filtration | 4.6-5 | L-proline (~250 mmol/L) as stabilizer; trace sodium; does not contain carbohydrate stabilizers (eg, sucrose, maltose) | Ready-for-use liquid 10% | <25 |
| Brand(Manufacturer) | Manufacturing Process | pH | Additives* | Parenteral Form and Final Concentrations | IgA Content (mcg/mL) |
| Carimune NF (CSL Behring) | Kistler-Nitschmann fractionation; pH 4, nanofiltration | 6.4-6.8 | 6% solution: 10% sucrose, <20 mg NaCl/g protein | Lyophilized powder 3%, 6%, 9%, 12% | Trace |
| Flebogamma (Grifols USA) | Cohn-Oncley fractionation, PEG precipitation, ion-exchange chromatography, pasteurization | 5.1-6 | Sucrose free, contains 5% D-sorbitol | Liquid 5% | <50 |
| Gammagard Liquid 10% (Baxter Bioscience) | Cohn-Oncley cold ethanol fractionation, cation and anion exchange chromatography, solvent detergent treated, nanofiltration, low pH incubation | 4.6-5.1 | 0.25M glycine | Ready-for-use liquid 10% | 37 |
| Gamunex (Talecris Biotherapeutics) | Cohn-Oncley fractionation, caprylate-chromatography purification, cloth and depth filtration, low pH incubation | 4-4.5 | Does not contain carbohydrate stabilizers (eg, sucrose, maltose), contains glycine | Liquid 10% | 46 |
| Iveegam EN (Baxter Bioscience) | Cohn-Oncley fraction II/III; ultrafiltration; pasteurization | 6.4-7.2 | 5% solution: 5% glucose, 0.3% NaCl | Lyophilized powder 5% | <10 |
| Polygam S/D Gammagard S/D (Baxter Bioscience for the American Red Cross) | Cohn-Oncley cold ethanol fractionation, followed by ultracentrafiltration and ion exchange chromatography; solvent detergent treated | 6.4-7.2 | 5% solution: 0.3% albumin, 2.25% glycine, 2% glucose | Lyophilized powder 5%, 10% | <1.6 (5% solution) |
| Octagam (Octapharma USA) | Cohn-Oncley fraction II/III; ultrafiltration; low pH incubation; S/D treatment pasteurization | 5.1-6 | 10% maltose | Liquid 5% | 200 |
| Panglobulin (Swiss Red Cross for the American Red Cross) | Kistler-Nitschmann fractionation; pH 4 incubation, trace pepsin, nanofiltration | 6.6 | Per gram of IgG: 1.67 g sucrose, <20 mg NaCl | Lyophilized powder 3%, 6%, 9%, 12% | 720 |
| Privigen Liquid 10% (CSL Behring) | Cold ethanol fractionation, octanoic acid fractionation, and anion exchange chromatography; pH 4 incubation and depth filtration | 4.6-5 | L-proline (~250 mmol/L) as stabilizer; trace sodium; does not contain carbohydrate stabilizers (eg, sucrose, maltose) | Ready-for-use liquid 10% | <25 |
*IVIG products containing sucrose are more often associated with renal dysfunction, acute renal failure, and osmotic nephrosis, particularly with preexisting risk factors (eg, history of renal insufficiency, diabetes mellitus, age >65 y, dehydration, sepsis, paraproteinemia, nephrotoxic drugs).
Treat infections with appropriate antimicrobial agents. Treat varicella infections with acyclovir. Prophylactic acyclovir is probably not beneficial in the prevention of varicella. Live viral vaccines should be avoided in these patients. The recently developed attenuated varicella vaccine may help reduce varicella infection in patients with cartilage-hair hypoplasia; however, no studies have confirmed this, and patients with cartilage-hair hypoplasia may develop vaccine-related varicella infection.
Antiviral agents
Nucleoside analogs are initially phosphorylated by viral thymidine kinase (TK) to eventually form a nucleoside triphosphate.
Acyclovir (Zovirax)
Synthetic purine nucleoside analogue that inhibits herpes virus replication. Herpes virus TK, but not host cell TK, uses acyclovir as a purine nucleoside, converting it into acyclovir monophosphate, a nucleotide analogue. Guanylate kinase converts the monophosphate form into diphosphate and triphosphate analogues that inhibit viral DNA replication.
Adult
200 mg PO q6h for 5 d
10 mg/kg (dose based on ideal body weight) IV infused over 1 h q8h for 7 d in patients with normal renal function
Pediatric
20 mg/kg/d PO q6h for 5 d; not to exceed 800 mg/d
Alternatively, 15-30 mg/kg/d or 750-1500 mg/m2/d IV infused over 1 h q8h for 7 d in patients with normal renal function; dose based on ideal body weight
Caution with coadministration of nephrotoxic drugs (eg, cyclosporine); concomitant use of probenecid or zidovudine prolongs half-life and increases CNS toxicity of acyclovir
Documented hypersensitivity
Pregnancy
C - Fetal risk revealed in studies in animals but not established or not studied in humans; may use if benefits outweigh risk to fetus
Precautions
Adjust dose by increasing dosing interval with impaired renal function
Vaccines
Active immunization increases resistance to infection. Vaccines consist of microorganisms or cellular components, which act as antigens. Vaccine administration stimulates the production of antibodies with specific protective properties.
Varicella virus vaccine, live attenuated (Varivax)
Attenuated live varicella virus prepared from the Oka/Merck strain. It is propagated in human diploid cell cultures (MRC-5). Each 0.5-mL dose (when reconstituted) contains 1350 PFU of varicella, sucrose, and gelatin; residual components of MRC-5 DNA and protein; plus trace quantities of neomycin and fetal bovine serum. Indicated for vaccination against varicella in individuals >1 y.
Adult
0.5 mL SC initially, follow in 4-8 wk with second 0.5-mL dose
Pediatric
First dose: Minimum age is 12 mo, 0.5 mL SC
Second dose: Typically administered between ages 4-6 y, but may administer before age 4, provided at least 3 mo have elapsed since first dose
>13 years: Administer as in adults
Avoid salicylates (aspirin) for 6 wk following vaccination (Reye syndrome has been reported following use of aspirin during natural varicella infection); defer vaccination for >5 mo following administration of blood, plasma, or immune globulin or VZIG because antivaricella antibodies in these preparations may decrease vaccine effect
Documented hypersensitivity; primary or acquired immunodeficiency; patients receiving immunosuppressive therapy may develop a more extensive vaccine-associated rash or disseminated disease; active untreated tuberculosis
Pregnancy
C - Fetal risk revealed in studies in animals but not established or not studied in humans; may use if benefits outweigh risk to fetus
Precautions
Because the vaccine is live, recipients may transmit the vaccine virus to close contacts; avoid close contact with susceptible high-risk people (ie, newborns, pregnant women, immunocompromised patients)
More on Cartilage-Hair Hypoplasia |
| Overview: Cartilage-Hair Hypoplasia |
| Differential Diagnoses & Workup: Cartilage-Hair Hypoplasia |
 Treatment & Medication: Cartilage-Hair Hypoplasia |
| Follow-up: Cartilage-Hair Hypoplasia |
| Multimedia: Cartilage-Hair Hypoplasia |
| References |
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References
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Further Reading
Keywords
cartilage-hair hypoplasia, CHH, short-limb dwarfism, metaphyseal dysplasia, spondyloepiphyseal dysplasia, immunodeficiency, metaphyseal chondrodysplasia McKusick type, T-cell immunodeficiency, isolated B-cell immunodeficiency, varicella infection, severe combined immunodeficiency, SCID, leukemia, lymphoma, graft versus host disease, non-Hodgkin lymphoma, basal cell carcinoma, anal stenosis, esophageal atresia, treatment, diagnosis
