Medical Policy: 05.01.36
Original Effective Date: December 2017
Reviewed: December 2017
Revised: January 2018
Benefit determinations are based on the applicable contract language in effect at the time the services were rendered. Exclusions, limitations or exceptions may apply. Benefits may vary based on contract, and individual member benefits must be verified. Wellmark determines medical necessity only if the benefit exists and no contract exclusions are applicable. This medical policy may not apply to FEP. Benefits are determined by the Federal Employee Program.
This Medical Policy document describes the status of medical technology at the time the document was developed. Since that time, new technology may have emerged or new medical literature may have been published. This Medical Policy will be reviewed regularly and be updated as scientific and medical literature becomes available.
Lysosomal storage diseases are inherited metabolic diseases that are characterized by an abnormal build-up of various toxic materials in the body's cells as a result of enzyme deficiencies. There are nearly 50 of these disorders altogether, and they may affect different parts of the body, including the skeleton, brain, skin, heart, and central nervous system.
Fabry disease is an inherited disorder that results from the buildup of a particular type of fat, called globotriaosylceramide, in the body's cells. Beginning in childhood, this buildup causes signs and symptoms that affect many parts of the body. Characteristic features of Fabry disease include episodes of pain, particularly in the hands and feet (acroparesthesias); clusters of small, dark red spots on the skin called angiokeratomas; a decreased ability to sweat (hypohidrosis); cloudiness of the front part of the eye (corneal opacity); problems with the gastrointestinal system; ringing in the ears (tinnitus); and hearing loss. Fabry disease also involves potentially life-threatening complications such as progressive kidney damage, heart attack, and stroke. Some affected individuals have milder forms of the disorder that appear later in life and affect only the heart or kidneys.
Cystinosis is a rare genetic condition causing cystine accumulation in lysosomes throughout the body. The early signs of this disorder typically involve the kidneys and the eyes. Excessive storage of the amino acid cystine in all cells of the body results in impaired kidney function, increased sensitivity to light, and marked growth retardation. There are infantile (the most common and most severe), juvenile, and adult forms, each with associated symptoms.
Pompe disease is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially muscles, impairs their ability to function normally.
Researchers have described three types of Pompe disease, which differ in severity and the age at which they appear. These types are known as classic infantile-onset, non-classic infantile-onset, and late-onset.
The classic form of infantile-onset Pompe disease begins within a few months of birth. Infants with this disorder typically experience muscle weakness (myopathy), poor muscle tone (hypotonia), an enlarged liver (hepatomegaly), and heart defects. Affected infants may also fail to gain weight and grow at the expected rate (failure to thrive) and have breathing problems. If untreated, this form of Pompe disease leads to death from heart failure in the first year of life.
The non-classic form of infantile-onset Pompe disease usually appears by age one. It is characterized by delayed motor skills and progressive muscle weakness. The heart may be abnormally large (cardiomegaly), but affected individuals usually do not experience heart failure. The muscle weakness in this disorder leads to serious breathing problems, and most children with non-classic infantile-onset Pompe disease live only into early childhood.
The late-onset type of Pompe disease may not become apparent until later in childhood, adolescence, or adulthood. Late-onset Pompe disease is usually milder than the infantile-onset forms of this disorder and is less likely to involve the heart. Most individuals with late-onset Pompe disease experience progressive muscle weakness, especially in the legs and the trunk, including the muscles that control breathing. As the disorder progresses, breathing problems can lead to respiratory failure.
Individuals with inherited deficiency of L-iduronidase have the lysosomal storage disease mucopolysaccharidosis type I. Treatment with laronidase reverses the metabolic and pathologic abnormalities outside the central nervous system. Mucopolysaccharidosis type I is classified into three distinct subgroups:
Mucopolysaccharidosis type II (MPS II), also known as Hunter syndrome, is a condition that affects many different parts of the body and occurs almost exclusively in males. It is a progressively debilitating disorder; however, the rate of progression varies among affected individuals.
At birth, individuals with MPS II do not display any features of the condition. Between ages two and four, they develop full lips, large rounded cheeks, a broad nose, and an enlarged tongue (macroglossia). The vocal cords also enlarge, which results in a deep, hoarse voice. Narrowing of the airway causes frequent upper respiratory infections and short pauses in breathing during sleep. As the disorder progresses, individuals need medical assistance to keep their airway open.
Many other organs and tissues are affected in MPS II. Individuals with this disorder often have a large head (macrocephaly), a buildup of fluid in the brain (hydrocephalus), an enlarged liver and spleen (hepatosplenomegaly), and a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen (inguinal hernia). People with MPS II usually have thick skin that is not very stretchy. Some affected individuals also have distinctive white skin growths that look like pebbles. Most people with this disorder develop hearing loss and have recurrent ear infections. Some individuals with MPS II develop problems with the light-sensitive tissue in the back of the eye (retina) and have reduced vision. Carpal tunnel syndrome commonly occurs in children with this disorder and is characterized by numbness, tingling, and weakness in the hand and fingers. Narrowing of the spinal canal (spinal stenosis) in the neck can compress and damage the spinal cord. The heart is also significantly affected by MPS II, and many individuals develop heart valve problems. Heart valve abnormalities can cause the heart to become enlarged (ventricular hypertrophy) and can eventually lead to heart failure.
For information on enzyme replacement for Gaucher disease please see pharmacy policy Gaucher Disease Agents 05.02.42
The use is considered medically necessary for a documented diagnosis of Hurler and Hurler-Scheie forms of mucopolysacchararidoses I (MPS I).
The use is considered medical necessary for a documented diagnosis of Scheie forms of mucopolysacchararidoses I (MPS I) with moderate to severe symptoms.
The use is considered medically necessary for a documented diagnosis of Hunter syndrome (mucopolysaccharidosis II) (MPS II).
The use is considered medically necessary for a documented diagnosis of Fabry disease in those 8 years of age and older.
The use is considered medically necessary for a documented diagnosis of lysosomal acid lipase (LAL) deficiency (Wolfman disease, cholesteryl ester storage disease [CESD]).
The use is considered medically necessary for a documented diagnosis of Pompe disease.
The use is considered medically necessary for a documented diagnosis of Pompe disease.
The use is considered medically necessary for a documented diagnosis of mucopolysaccharidosis VI (MPS VI), Maroteaux-4 Lamy Syndrome.
The use is considered medically necessary for a documented diagnosis of mucopolysaccharidosis IVA (Morquio A syndrome).
All other uses for intravenous enzyme replacements above are considered not medically necessary.
To report provider services, use appropriate CPT* codes, Alpha Numeric (HCPCS level 2) codes, Revenue codes and / or diagnosis codes.
National Institutes of Health (NIH). Gaucher Disease: Current Issues in Diagnosis and Treatment. NIH Technology Assessment Conference Statement. Bethesda, MD: NIH; February 27- March 1, 1995.
Weinreb NJ, Charrow J, Andersson HC, et al. Effectiveness of enzyme replacement therapy in 1028 patients with type 1 Gaucher disease after 2 to 5 years of treatment: A report from the Gaucher Registry. Am J Med. 2002;113(2):112-119.
Vellodi A, Bembi B, de Villemeur TB, et al. Management of neuronopathic Gaucher disease: A European Consensus. Neuronopathic Gaucher Disease Task Force of the European Working Group on Gaucher Disease. J Inherit Metab Dis. 2001;24:310-327.
Mehta A, Beck M, Elliott P, et al; Fabry Outcome Survey investigators. Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease: An analysis of registry data. Lancet. 2009;374(9706):1986-1996.
U.S. Food and Drug Administration (FDA). FDA expands approval of drug to treat Pompe disease to patients of all ages; removes risk mitigation strategy requirements. FDA News Release. Silver Spring, MD: FDA: August 1, 2014.
Vpriv (velaglucerase alfa) [package insert]. Shire Human Genetic Therapies, Inc. Cambridge (MA): Apr 2013.
Elelyso (taliglucerase alfa) [package insert]. Pfizer Laboratories Inc. New York (NY): May 2012.
Cerezyme (imiglucerase) [package insert]. Genzyme Corp. Cambridge (MA): December 2012.
Genzyme Corporation. Lumizyme (alglucosidase alfa), for injection, for intravenous use. Prescribing Information. Cambridge, MA: Genzyme; revised August 2014.
Parenti G, Moracci M, Fecarotta S, Andria G. Pharmacological chaperone therapy for lysosomal storage diseases. Future Med Chem. 2014;6(9):1031-1045.
Valayannopoulos V, Malinova V, Honzík T, et al. Sebelipase alfa over 52 weeks reduces serum transaminases, liver volume and improves serum lipids in patients with lysosomal acid lipase deficiency. J Hepatol. 2014;61(5):1135-1142.
Pisani A, Bruzzese D, Sabbatini M, et al. Switch to agalsidase alfa after shortage of agalsidase beta in Fabry disease: A systematic review and meta-analysis of the literature. Genet Med. 2016 Sep 8 [Epub ahead of print].
BioMarin Pharmaceutical Inc. Vimizim (elosulfase alfa) injection, for intravenous use. Prescribing Information. V1/2014. Novato, CA: BioMarin; revised February 2014.U.S. Food and Drug Administration (FDA). FDA approves Vimizim to treat rare congenital enzyme disorder. FDA News. Silver Spring, MD: FDA; February 14, 2014.
Genetics Home Reference, Health Conditions. Retrieved on 12/4/2017.
Mauer M, Koop J. Clinical features and diagnosis of Fabry disease. In: UpToDate, Waltham, MA: Walters Kluwer Health; 2016.
Hendriksz CJ, Berger KI, Giugliani R, at al. International guidelines for the management and treatment of Morquio A syndrome. Am J Med Genet A. 2015; 167A(1):11-25.
Burton BK, Berger KI, Lewis GD, et al. Safety and physiological effects of two different doses of elosulfase alfa in patients with morquio a syndrome: a randomized, double-blind, pilot study. Am J Med Genet A. 2015; 167A(10):2272-2281.
Pastores GM, Rosenbloom B, Weinreb N, et al. A multicenter open-label treatment protocol (HGT-GCB-058) of velaglucerase alfa enzyme replacement therapy in patients with Gaucher disease type 1: safety and tolerability. Genet Med. 2014 May;16(5):359-66.
Hughes DA, Gonzalez DE, Lukina EA, et al. Velaglucerase alfa (VPRIV) enzyme replacement therapy in patients with Gaucher disease: Long-term data from phase III clinical trials. Am J Hematol 90:584–591, 2015.
Wellmark medical policies address the complex issue of technology assessment of new and emerging treatments, devices, drugs, etc. They are developed to assist in administering plan benefits and constitute neither offers of coverage nor medical advice. Wellmark medical policies contain only a partial, general description of plan or program benefits and do not constitute a contract. Wellmark does not provide health care services and, therefore, cannot guarantee any results or outcomes. Participating providers are independent contractors in private practice and are neither employees nor agents of Wellmark or its affiliates. Treating providers are solely responsible for medical advice and treatment of members. Our medical policies may be updated and therefore are subject to change without notice.
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