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Alstrom syndrome
ICD-10 Codes
Related ICD-10:
Description
Alström Syndrome is a rare genetic disorder that affects multiple body systems, leading to various symptoms and complications.
Characteristics of Alström Syndrome
- Vision and Hearing Abnormalities: Individuals with Alström Syndrome often experience vision loss due to cone-rod dystrophy, which can progress to complete blindness [1]. They may also suffer from hearing impairment or deafness [6][7][8].
- Childhood Obesity: One of the earliest signs of Alström Syndrome is childhood obesity, which can lead to insulin resistance and type 2 diabetes mellitus (T2DM) [5][12].
- Heart Disease: The disorder is associated with cardiomyopathy, a condition where the heart muscle becomes weakened, leading to heart failure [4][14].
- Other Complications: Alström Syndrome can also cause progressive hepatic and renal dysfunction, nonalcoholic fatty liver disease (NAFLD), and chronic kidney disease [4].
Inheritance Pattern
Alström Syndrome is inherited in an autosomal recessive pattern, meaning that a person must inherit two copies of the mutated gene (one from each parent) to develop the condition [12].
Prevalence
The disorder is extremely rare, with a suggested prevalence of 1/1000,000 in Europe and North America [4].
Additional Characteristics
- Nonalcoholic fatty liver disease (NAFLD)
- Chronic kidney disease
- Vision loss due to cone-rod dystrophy
- Hearing impairment or deafness
- Childhood obesity leading to insulin resistance and type 2 diabetes mellitus
- Cardiomyopathy and heart failure
- Progressive hepatic and renal dysfunction
Signs and Symptoms
Alström Syndrome is a rare genetic disorder characterized by a range of symptoms that can vary in severity and impact on daily life.
Common Signs and Symptoms:
- Vision and Hearing Abnormalities: Many individuals with Alström Syndrome experience progressive vision loss, often starting in childhood or adolescence, due to cone-rod dystrophy [1]. Hearing loss is also common, affecting both children and adults [2].
- Obesity and Insulin Resistance: Childhood obesity is a hallmark of Alström Syndrome, often accompanied by insulin resistance and type 2 diabetes mellitus [3].
- Heart Disease: A form of heart disease that enlarges and weakens the heart (cardiomyopathy) can occur in individuals with Alström Syndrome [4].
- Photophobia: Babies with Alström Syndrome may exhibit extreme sensitivity to light, causing rapid movement of the eyes [5].
Other Possible Symptoms:
- Acanthosis Nigricans: Some individuals with Alström Syndrome develop a skin condition characterized by thick, dark skin in body folds and creases [6].
- Congenital Heart Failure: In some cases, babies may experience collapse due to congenital heart failure within the first few weeks of life [7].
It's essential to note that each individual with Alström Syndrome may experience a unique combination of symptoms, and not everyone will exhibit all of these characteristics. If you suspect someone has Alström Syndrome, it's crucial to consult with a medical professional for proper diagnosis and care.
References:
[1] - [7] are citations from the provided context block.
Additional Symptoms
- Vision and Hearing Abnormalities
- Obesity and Insulin Resistance
- Heart Disease
- Acanthosis Nigricans
- photophobia
- heart failure
Diagnostic Tests
Alström Syndrome is a rare genetic disorder that affects multiple systems in the body, including vision and hearing, as well as metabolic and cardiovascular systems.
Diagnostic tests for Alström Syndrome typically include:
- Vision tests to assess visual acuity and detect any abnormalities in the retina or optic nerve [1]
- Hearing tests to evaluate hearing loss and potential ear problems [2]
- Heart function testing to check for signs of heart disease, such as enlarged or weakened heart muscle [8]
- Blood and urine testing to diagnose liver dysfunction and renal issues [2]
- Blood sugar level tests to detect high blood sugar or hyperglycemia [3][9]
Genetic testing can also be used to confirm the clinical diagnosis, particularly if there is a family history of Alström Syndrome. This involves analyzing DNA samples from affected individuals for mutations in the ALMS1 gene, which causes the disorder [4].
Other tests may include:
- Thyroid function tests to assess thyroid hormone levels and potential hypothyroidism
- Triglyceride level testing to evaluate lipid metabolism and potential metabolic issues
- ERG (electroretinogram) testing to diagnose cone dystrophy in older children and adults
It's essential to consult with a healthcare professional for accurate diagnosis and treatment of Alström Syndrome.
References: [1] Context 7: Nystagmus / photophobia / impaired vision (if old enough for testing: cone dystrophy by ERG) [2] Context 2: Vision tests; Hearing tests; Heart function testing; Blood and urine testing for liver dysfunction and renal ... [3] Context 3: Blood sugar levels (to diagnose high blood sugar or hyperglycemia) [4] Context 4: Since Alström syndrome is caused by mutations in the ALMS1 gene, molecular genetic analysis can be used to confirm the clinical diagnosis [5-7] [8] Context 8: Alström syndrome is characterized by a progressive loss of vision and hearing, a form of heart disease that enlarges and weakens the heart muscle. [9] Context 3: Blood sugar levels (to diagnose high blood sugar or hyperglycemia)
Additional Diagnostic Tests
- Vision tests to assess visual acuity and detect any abnormalities in the retina or optic nerve
- Hearing tests to evaluate hearing loss and potential ear problems
- Heart function testing to check for signs of heart disease, such as enlarged or weakened heart muscle
- Blood and urine testing to diagnose liver dysfunction and renal issues
- Blood sugar level tests to detect high blood sugar or hyperglycemia
- Genetic testing (analysis of DNA samples) for mutations in the ALMS1 gene
- Thyroid function tests to assess thyroid hormone levels and potential hypothyroidism
- Triglyceride level testing to evaluate lipid metabolism and potential metabolic issues
- ERG (electroretinogram) testing to diagnose cone dystrophy
Treatment
Treatment Options for Alström Syndrome
Alström Syndrome, a rare genetic disorder, has no specific treatment. However, various treatments can help manage its symptoms.
- Diabetes Management: People with Alström Syndrome often develop diabetes. Treatment involves administering diabetes medicine to regulate blood sugar levels.
- Hearing and Vision Correction: Corrective lenses and hearing aids can help alleviate vision and hearing problems associated with the condition.
- Medications for Diabetes, Hearing, and Vision: Medications may be prescribed to manage symptoms such as high blood pressure, heart failure, and other complications.
Current Research and Developments
Recent studies have explored new treatment options for Alström Syndrome. For instance:
- A study published in 2020 investigated the metabolic effects of growth hormone therapy in an Alström syndrome patient [3].
- Another study from 2018 evaluated the safety and anti-inflammatory & anti-fibrotic activities of PBI-4050 in subjects with ALMS (Alström Syndrome) [7].
Regulatory Updates
In 2022, Rhythm Pharmaceuticals announced an FDA extension of review period for IMCIVREE (setmelanotide) for patients with Bardet-Biedl syndrome and Alström syndrome [5]. This development indicates ongoing efforts to find effective treatments for these rare conditions.
Heart Failure Treatment
While there is no cure for Alström Syndrome, heart failure treatment options include:
- Angiotensinogen-converting enzyme (ACE) inhibitors
- Beta-blockers
- Diuretics
- Digoxin
In severe cases, heart transplantation may be considered [6].
No Cure in Sight
Unfortunately, there is no cure for Alström Syndrome. Treatments focus on managing individual symptoms and can include diet, medications, and corrective measures like hearing aids and glasses.
References:
[1] No specific treatment for Alström Syndrome (Search Result 2) [3] Metabolic effects of growth hormone therapy in an Alström syndrome patient (Search Result 3) [5] FDA extension of review period for IMCIVREE (setmelanotide) (Search Result 5) [6] Heart failure treatment options (Search Result 6) [7] Safety and anti-inflammatory & anti-fibrotic activities of PBI-4050 in subjects with ALMS (Search Result 7) [8] No cure for Alström Syndrome (Search Result 8)
Recommended Medications
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Differential Diagnosis
Alström Syndrome is a rare genetic disorder that affects multiple systems in the body, including the eyes, ears, heart, and pancreas. When considering the differential diagnosis of Alström Syndrome, several other conditions must be taken into account.
- Wolfram Syndrome: Also known as DIDMOAD (Diabetes Insipidus, Diabetes Mellitus, Optic Atrophy, and Deafness), Wolfram Syndrome is a rare genetic disorder that affects the pancreas, eyes, and ears. Like Alström Syndrome, it can cause diabetes mellitus, optic atrophy, and sensorineural deafness [1].
- Cohen Syndrome: This is another rare genetic disorder that can cause visual impairment, hearing loss, and developmental delays. While not as closely related to Alström Syndrome as Wolfram Syndrome, Cohen Syndrome shares some similar symptoms [2].
- Biemond Syndrome: A rare genetic disorder that affects the eyes, ears, and pancreas, Biemond Syndrome is another condition that can cause visual impairment, hearing loss, and diabetes mellitus. It is often considered in the differential diagnosis of Alström Syndrome due to these overlapping symptoms [3].
- Usher Syndrome: This is a rare genetic disorder that affects the eyes and ears, causing progressive vision and hearing loss. While not as closely related to Alström Syndrome as some other conditions, Usher Syndrome can be considered in
Additional Differential Diagnoses
- Bardet-Biedl syndrome 2
- Bardet-Biedl syndrome 3
- Bardet-Biedl syndrome 4
- Bardet-Biedl syndrome 5
- Bardet-Biedl syndrome 7
- Bardet-Biedl syndrome 9
- Bardet-Biedl syndrome 14
- Bardet-Biedl syndrome 15
- Bardet-Biedl syndrome 17
- Bardet-Biedl syndrome
- Usher syndrome
- N syndrome
- Wolfram syndrome 1
- Cohen syndrome
Additional Information
- relatedICD
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- rdf-schema#domain
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- owl#annotatedSource
- t332300
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- OMIM mapping confirmed by DO. [SN].
- core#notation
- DOID:0050473
- core#exactMatch
- MESH:D056769
- rdf-schema#label
- Alstrom syndrome
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- disease_ontology
- oboInOwl#id
- DOID:0050473
- oboInOwl#hasDbXref
- UMLS_CUI:C0268425
- IAO_0000115
- A syndrome that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the ALMS1 gene.
- oboInOwl#inSubset
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- RO_0002452
- http://purl.obolibrary.org/obo/SYMP_0000008
- IDO_0000664
- http://purl.obolibrary.org/obo/GENO_0000148
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It is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified healthcare provider with questions about your medical condition.