Alström syndrome
| Alström syndrome | |
|---|---|
| Specialty | Medical genetics, ophthalmology, neurology |
| Symptoms | cone-rod dystrophy, photophobia, nystagmus, hearing impairment, cardiomyopathy, childhood obesity, extreme insulin resistance, accelerated non-alcoholic fatty liver disease, renal dysfunction, respiratory disease, endocrine and urologic disorders |
| Usual onset | Clinical symptoms often appear in infancy but have great variability in both age of onset and symptom severity. |
| Causes | Variants in the ALMS1 gene on chromosome 2p13 |
| Diagnostic method | Based on symptoms and genetic testing |
| Treatment | Management of symptoms |
| Prognosis | Life expectancy is typically between 40-50 years |
| Named after | Carl-Henry Alström |
Alström syndrome (AS) is a very rare multi-system, autosomal recessive genetic disorder characterized by type 2 diabetes, cone-rod dystrophy resulting in blindness, sensorineural hearing loss and cardiomyopathy. Endocrine disorders typically also occur, such as hypergonadotrophic hypogonadism and hypothyroidism, as well as acanthosis nigricans resulting from hyperinsulinemia.[1]
AS is caused by variants in the ALMS1 gene, which is located on the chromosome 2-13 and is involved in the formation of cellular cilia, making Alström syndrome a ciliopathy. At least 300 disease-causing variants in ALMS1 have been described as of 2023.[2] Alström syndrome is sometimes confused with Bardet–Biedl syndrome, another ciliopathy which has similar symptoms, but Bardet–Biedl syndrome tends to be associated with multiple genes, rather than just one like in AS, and includes polydactyly.[3][4]
There is no cure or specific therapy for Alström syndrome. However, various treatments target the individual symptoms and can include diet, specialized glasses, hearing aids, medications for diabetes and heart issues, and dialysis and/or transplantation in the case of kidney or liver failure.[1] Prognosis varies depending on the specific combination of symptoms, but individuals with Alström syndrome rarely live beyond 50.[5]
Incidence of AS is cited as 1 in 1,000,000 individuals in the general population, but this is expected to be an underestimation due to the phenotypic variation of the disease and the high rate of misdiagnosis.[1][4] There is a higher frequency of variants within French Acadians and English populations.[1][6]
Research
Alström Syndrome was first discovered by Swedish psychiatrist, Carl-Henry Alström and his three associates, B. Hallgren, I. B. Nilsson and H. Asander, in 1946.[7] Alström and his colleagues published their first manuscript in 1959, which contained a very thorough investigation of three patients with a recessive combination of retinal degeneration, obesity, sensorineural hearing loss, and diabetes, which are all extremely common symptoms in AS.[8] The syndrome was first known as Alström-Hallgren Syndrome, but has since been more widely known as just Alström Syndrome.[8]
In 2001 Jackson Laboratory in Bar Harbor, Maine, USA with the University of Southampton, UK isolated the single gene (ALMS1) responsible for Alström syndrome.[9] The Jackson Laboratory created the very first mouse model for AS, Alms1-/-, or more colloquially known as "Carl Henry Mouse" in 2004. These mice continue to be used in research studies to simulate the symptoms of an individual with AS.[10]
Cause
Alström syndrome is caused by a mutation in the ALMS1 gene, located on the short arm of chromosome 2p13.[11] The gene mutation is inherited as an autosomal recessive trait. This means both parents have to pass a defective copy of the ALMS1 gene in order for their child to have the syndrome, even though the parents may not show signs or symptoms of the condition.[12]
The ALMS1 gene contains instructions to encode a specific protein known as ALMS1. The protein then is involved in ciliary maintenance and function, cell cycle control, energy balance homeostasis, and intracellular transport.[13] It has a role in the proper function, maintenance and formation of cilia, which are found in all types of cells in the body.[13][14] Most of these variants have led to the production of a dysfunctional version of the ALSM1 protein which are present in tissues, but at low levels.[15]
Signs and symptoms
Symptoms for Alström syndrome can be extremely variable in both age of onset and presentation. Some common symptoms include:[1]
- Retinal dystrophy (cone-rod dystrophy) in all cases, usually within a few weeks of birth and progressively worsening until about 20 years of age when vision is lost.[16] Nystagmus (often one of the first symptoms identified) and photophobia are also very common.[17]
- Mild to moderate progressive bilateral sensorineural hearing loss. Hearing impairment is typically diagnosed between the ages of 1 and 10.[1][18]
- Congestive heart failure (dilated cardiomyopathy) in over 60% of individuals over the course of their lifetimes. Around 40% of individuals suffer from a severe cardiomyopathy within the first few months of life. For those who survive, cardiomyopathy occurs in 1 of 5 patients with onset in adolescence or adulthood.[1][19]
- Hypothyroidism tends to occur in less than half of patients.[20]
- Growth hormone dysfunction is common in around half of individuals with AS.[21]
- Thoracic and lumbar scoliosis, kyphosis, or lordosis is present in around 68% of patients.[19]
- Male hypergonadotropic and hypogonadotropic hypogonadism and female hyperandrogenism.[1]
- Men can experience microphallus, undescended testes, hypospadias, small testes, and gynecomastia. They are also unlikely to be fertile.[1]
- Women can experience hirsutism, alopecia, oligomenorrhea/amenorrhea, polycystic ovaries, high testosterone levels, abnormal breast development, precocious puberty, and endometriosis.[1][19] Female fertility is unlikely and only reported in a few cases.[22]
- Childhood obesity occurs in most people with AS. Alström infants are usually within the normal birth weight and then experience rapid weight gain within the first 2–36 months.[1][23]
- Hyperphagia or polyphagia is common within Alström populations and has been shown to contribute to weight gain.[20]
- Moderate to severe hypertriglyceridemia occurs in most individuals.[24]
- Almost all individuals with AS experience insulin resistance and/or hyperinsulinemia to some degree.[1] Therefore, type 2 diabetes mellitus often results as early as 5 years of age with a median onset of 16 years.[19]
- Non-alcoholic fatty liver disease is common in AS. This often progresses to non-alcoholic steatohepatitis.[25]
- Upper and lower respiratory tract infections in childhood, which decrease during adulthood.[1]
- Bronchitis, pneumonia, and sinusitis have also been reported.[26]
- Increased susceptibility to hypoxemia during or after surgery.[27]
- Chronic obstructive pulmonary disease, interstitial lung disease, or acute respiratory distress syndrome is also seen in some older patients.[1]
- Chronic kidney disease is common in some cases that can lead to end-stage renal disease/kidney failure as early as mid-to late teens.[28]
- Less than half of individuals experience dysuria.[1]
- Epigastric pain, nausea, and gastroesophageal reflux disease are common.[29]
- Delays in gross and fine motor skills, learning disabilities, and mixed receptive-expressive language delays are common. Cognitive impairment, however, is very rare.[19]
- Delays in early, developmental milestones in 50% of cases, learning disabilities in about 30% of cases.[19]
- Seizures and hyporeflexia have been reported but are less common (20% of individuals).[1]
Diagnosis
Diagnosis typically occurs in the first few years of life and should be confirmed with a review of symptoms as well as genetic testing with targeted panels that include the ALMS1 gene as well as other ciliopathies, retinal diseases, cardiomyopathy, and obesity.[1] Typically, the first symptoms to be observed are nystagmus, photophobia, impaired vision, and/or infantile cardiomyopathy within the first two years of life.[19] Obesity and/or sensorineural hearing loss are often next and should be followed by genetic/molecular testing to try and identify two pathogenic variants of ALMS1 to confirm or deny the presence of the disease.[1]
However, the rarity of the disease, variability of symptoms, and lack of experts can make diagnosis very difficult.[1] Additionally, since it can be difficult to identify both biallelic pathogenic variants in the ALMS1 gene, there is existing diagnostic criteria as shown below.[19][30]
| Age Range | Major Diagnostic Criteria | Minor Diagnostic Criteria | Minimum Required |
|---|---|---|---|
| 0 – 2 years | -1 ALMS1 variant OR family history of Alström syndrome
-Visual impairment -Infantile cardiomyopathy |
-Obesity
-Hearing loss |
-2 major criteria OR
-1 major + 2 minor criteria |
| 3–14 years | -1 ALMS1 variant OR family history of Alström syndrome
-Visual impairment -History of infantile cardiomyopathy |
-Hearing loss
-Obesity AND/OR its complications -Restrictive cardiomyopathy -Decreased renal function |
-2 major criteria OR
-1 major + 3 minor criteria |
| 15 years - adult | -1 ALMS1 variant OR family history of Alström syndrome
-Visual impairment |
-Hearing loss
-Restrictive cardiomyopathy AND/OR history of infantile cardiomyopathy -Obesity AND/OR its complications -Chronic kidney disease |
-2 major + 2 minor criteria OR
-1 major + 4 minor criteria |
Assessment
Due to Alström Syndrome's effect on nearly every organ system of the body, experts strongly recommend a multidisciplinary team of professionals with experience caring for those with AS when possible.[1] The following multidisciplinary assessment is recommended for those with AS:
| Discipline | Features of AS for which this discipline may be of assistance | Initial Assessment | Follow-up |
|---|---|---|---|
| Primary Care Physician[1] | Provide oversight & coordinate specialists | First referral at time of diagnosis | 6 months or less as per clinical need |
| Geneticists/clinical scientists[19][30][31] | Prenatal screening, AS diagnosis, counseling for families | First referral prenatal or during childhood. Initial assessment: detection of two ALMS1 variants. Then, possible investigation of parental genotypic information | As per request or clinical need |
| Opthalamologists[32] | Blindness, nystagmus, photophobia, retinal dystrophy | First referral before the age of one.
Initial assessment includes: standard evaluation, imaging, and testing |
Annually |
| ENT specialist[18] | Progressive bilateral sensorineural hearing loss | First referral usually during childhood. Assessment includes otologic and audiologic evaluation of both ears. | Annually |
| Cardiologist[33][34] | Infantile, juvenile, or adult onset cardiomyopathy, hypertension, coronary artery disease, heart failure | First referral before the age of one.
Initial assessment: natriuretic peptides, transthoracic echocardiography (TTE), ECG. In older children and adult, include CMR |
ECG - yearly
TTE - yearly or per clinical need |
| Pulmonologist[26][35] | Assess for pulmonary fibrosis, restrictive lung disease, pulmonary hypertension | First referral during adulthood.
Initial assessment includes Conventional Pulmonary Function test (cPFT) and chest X-ray, and HRCT Thorax when needed. |
HRCT Thorax - as per clinical need |
| Endocrinologist/Metabolic Specialist [19][20][36][37] | Assess and treatment of metabolic complications (obesity, insulin-resistance, type II diabetes, non-alcoholic fatty liver disease, dyslipidemia) and endocrine disorders (hypothyroidism, GH deficiency, male hypogonadism, female hypoandrogenism) | First referral during childhood.
Initial assessment: Body measurements, thyroid Function Test (TFT), pituitary and sexual hormones, glucose levels, HbA1c, and lipid profile. |
Every 6–12 months in children, then yearly |
| Gastroenterologist/hepatologist[25] | Assess for liver fibrosis/cirrhosis and associated complications (portal hypertension, cancer, liver failure). | First referral: From childhood to adulthood
Initial assessment: Liver function tests, platelet count, liver ultrasound, transient elastography and ELF test. Upper endoscopy (EGD) in case of cirrhosis |
Yearly or per clinical need
Liver ultrasound yearly or as per clinical need |
| Nephrologist[28] | Assess for progressive renal dysfunction and Chronic Kidney Disease | First referral: from mid-childhood to adulthood
Initial assessment: Kidney function test and renal ultrasonography |
Yearly or per clinical need |
| Neurologist[38][39] | Assess of developmental milestones, learning disability, mixed receptive-expressive language delays, seizure, and hyporeflexia | First referral during childhood.
Initial assessment: Neurological examination, school and social performance, interviews with parents, and intelligence tests |
As per clinical need |
| Anesthesiologist[40] | Assess for anaesthetic risk before surgery | First referral as per clinical need. | As per clinical need |
| Clinical psychology/behavioral therapy team [41] | Mental health disorders, such as anxiety, isolation, and depression. | First referral: from mid-childhood to adulthood | Yearly or per clinical need |
| Physiotherapist[1] | Physical exercise | First referral: from childhood to adulthood, as per clinical need
Initial assessment: physical examination |
Yearly or as per clinical need |
| Dietician[42] | Personalized diet, weight, and lifestyle management | First referral during childhood | Every 6–12 months or as per clinical need |
| Speech and language therapist [43] | Assess of sensorial impairment on communication and social interactions including speech perception and recognition, sound localization, and distance evaluation. | First referral during childhood. | Yearly or as required |
| Social worker[1] | Connecting patients and families living with disabilities with resources | First referral: from childhood to adulthood | As required |
| Patients' Association [1] | Support to patients and their families. | First referral at the time of diagnosis | As required |
Management
There is no cure for Alström syndrome. Therefore, treatment should aim to reduce the burden of symptoms and prevent further complications. Some of these treatment aims include:[1]
- Corrective lenses: Orange or rose-tinted lenses help with the sensitivity from bright lights. The patients may have to adapt to reading in Braille, use adaptive equipment, mobility aids, such as canes and guide dogs, and other assistive technology can help individuals with AS maximize their skills and thrive.[1]
- Hearing aids: the battery-operated devices are available in three styles: behind the ear, in the ear and inside the ear canal. Behind the ear aims for mild-to-profound hearing loss. In the ear aims for mild to severe hearing loss. Lastly, the canal device is aimed for mild to moderately severe hearing loss. Patients that have severe hearing loss may benefit from a cochlear implant.[1]
- Pharmacological Intervention: Many symptoms, such as Type II diabetes, obesity, and more related to AS can be managed with pharmacological support.[1] See below medication section.
- Diet: an appropriate and healthy diet is necessary for individuals with Alström syndrome because it could potentially decreases chances of obesity or diabetes.[1]
- Physical Activity: exercising reduces chances of being obese and helping control blood sugar levels.[1]
Medication
Cardiovascular
- Cardiomyopathy/heart failure - Angiotensin receptor blockers (ARBs), angiotensin converting enzyme inhibitors (ACEis), angiotensin receptor-neprilysin inhibitors (ARNis), beta-blockers, calcium channel blockers, loop diuretics, thiazide diuretics, mineralocorticoid receptor antagonists (MRAs), vasodilators [44]
- Note that blood pressure control is also renally protective.[45]
Thyroid
- Hypothyroidism - Levothyroxine, liothyronine[46]
Endocrine
- Insulin Resistance, hyperinsulinemia, type II Diabetes, hypertriglyceridemia - Sodium-glucose transport protein 2 inhibitors, metformin, sulfonylureas, DPP-4 inhibitors, short and long-acting insulin[47]
Obesity
- Obesity in adults - Glucagon-like peptide-1 receptor agonists[48]
Liver
- Non-alcoholic fatty liver disease - Laxatives [47]
Respiratory
- Bronchitis, pneumonia, asthma, and sinusitis - Inhaled corticosteroids, short and long-acting bronchodilators[49]
- Chronic Obstructive Pulmonary Disease - Inhalers [50]
Gastrointestinal
- Gastroesophageal reflux disease - Proton pump inhibitors[51]
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Further reading
- Marshall JD, Beck S, Maffei P, Naggert JK (2007). "Alström syndrome". Eur. J. Hum. Genet. 15 (12): 1193–202. doi:10.1038/sj.ejhg.5201933. PMID 17940554.
- Alfonso Ortigado., et al. "Semaglutide in Alström Syndrome: An Improvement in the Natural Course of Cardiomyopathy". EC Paediatrics 14.7 (2025): 01-07.
- Berkower C. Voice of the Patient Report [Internet]. Alstrom Syndrome International; 2022 [cited 2024 Aug 22]. Available from: https://www.alstrom.org/wp-content/uploads/2023/05/ASI-EL-PFDD_FINAL_8May23.pdf
- Knorz VJ, Spalluto C, Lessard M, Purvis TL, Adigun FF, Collin GB, Hanley NA, Wilson DI, Hearn T (2010): Centriolar association of ALMS1 and likely centrosomal functions of the ALMS motif-containing proteins C10orf90 and KIAA1731. Mol Biol Cell (21):3617-3629.
- Koc E, Bayrak G, Suher M, Ensari C, Aktas D, Ensari A (2006): Rare case of Alstrom syndrome without obesity and with short stature, diagnosed in adulthood. Nephrology11(2):81-84.
- Roy A, Patel L, Yuan M, O'Shea C, Alvior AMB, Charalambides M, Moxon D, Baig S, Bunting KV, Gehmlich K, Geberhiwot T, Steeds RP. Defining the cardiovascular phenotype of adults with Alström syndrome. Int J Cardiol. 2024 Aug 15;409:132212. doi: 10.1016/j.ijcard.2024.132212. Epub 2024 May 26. PMID 38806112.