When I was actively serving as a doctor a few years ago, the idea of managing a patient in a multidisciplinary setting was still in its infancy. Oftentimes, even if multidisciplinary meetings were held, cases were discussed at a lightning speed—a few minutes for each case at most. 

Upon reflection, I think the greatest impediment to healthy, synergistic teamwork in a multidisciplinary setting is that each discipline has a particular way of doing things; hence, there is little appetite for others to point out possible flaws and inconsistencies in those methods, since it can be (incorrectly) viewed as an attack on the entire discipline itself. No man is an island, but some doctors might prefer that over the prospect of working with colleagues cut from a different cloth.

Read more about Alagille syndrome etiology 

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Of course, attitudes are changing rapidly. Increasingly, multidisciplinary meetings are held in a meaningful and productive manner. Multidisciplinary cooperation is especially important if a case is so complex so as to involve various disciplines in the adequate care of the patient. One such example is the care of patients with Alagille syndrome

A Multi-Organ Disease 

Alagille syndrome, caused by mutations involving the Notch signaling pathway of the JAG1 gene or the NOTCH2 gene, results in pathologies across a number of organs. In the Journal of Multidisciplinary Healthcare, Menon and colleagues compiled a helpful list of the various organs impacted by Alagille syndrome: 

  • In the liver, paucity of interlobular bile ducts and cholestasis can occur. 
  • In the heart, peripheral pulmonary artery stenosis and pulmonary atresia can occur, as well as various congenital heart conditions. 
  • Skeletal manifestations include butterfly vertebrae, hemivertebrae, spina bifida occulta, and the fusion of adjacent vertebrae. 
  • In the kidney, renal tubular acidosis or ureteropelvic junction anomaly may occur. 
  • Ocular manifestations include posterior embryotoxon, optic drusen, angulated retinal vessels, and pigmentary retinopathy. 
  • The characteristic facial features observed in Alagille syndrome may include a broad forehead, deep-set eyes, up-slanting palpebral fissures, and triangular facies. 
  • Vascular anomalies may occur, such as aneurysms of intracranial or intra-abdominal vessels, and moyamoya disease. 

This extensive list of potential pathologies across various organs in the body gives us a bird’s-eye view of the extent of the damage Alagille syndrome can cause. Although its hepatic, cardiac, and skeletal abnormalities often receive the most attention, the list above demonstrates that hardly any system is spared from being affected by the disease. This represents one of the strongest cases for Alagille syndrome to be managed in a multidisciplinary setting. 

Diagnostics Spanning Several Specialties 

In the European Journal of Human Genetics, Turnpenny and colleagues wrote about some of the steps that should be taken in a patient diagnosed (or suspected to have a diagnosis of) Alagille syndrome. According to the research team, these are the important evaluations that should be carried out: 

  • Assessment by a physician/pediatrician/gastroenterologist with liver function tests (with a particular emphasis on gamma-glutamyl transferase levels, which are raised in association with the conjugated hyperbilirubinemia in Alagille syndrome), serum triglycerides and cholesterol, bile acids, clotting studies, ultrasound, scintiscan, and biopsy. 
  • Cardiac assessment carried out in great detail
  • Anteroposterior spinal X-ray
  • Ophthalmological assessment
  • Renal function tests and renal ultrasound. 

“In addition, when the diagnosis is made in infancy or childhood, monitoring of growth, development, diet and nutritional status, renal tubular function, and pancreatic function should all be undertaken,” Turnpenny and colleagues wrote. ”This requires a multidisciplinary approach.” 

Indeed, given the complexity of the clinical picture that patients with Alagille syndrome may present with, there is simply no alternative to providing care in a multidisciplinary setting. There are just too many highly specialized areas of medicine involved, and physicians would be wise to work together to optimize patient care.

Detecting All Related Pathologies

The problem of managing Alagille syndrome alone is that, first, the diagnosis may be missed out altogether, given the progressive nature of this disease. Turnpenny et al wrote, “The diagnosis can be very difficult in a family without an individual who fulfills the Classic Criteria. [Alagille syndrome] is therefore a condition presenting challenges to clinical judgment, decisions about genetic testing, and counseling for the wider family.” 

Second, even if Alagille syndrome is correctly diagnosed and certain pathologies have been identified, there is a significant risk that pathologies in systems less familiar to the physician may be missed, wasting precious time in treating the associated conditions. For example, ocular manifestations tend to be easier to miss, especially if patients do not voice any complaints in this area. 

Read more about Alagille syndrome treatment 

Given that Alagille syndrome is a genetic disease, there is often a need for genetic counseling to be offered as a service to parents or would-be parents. Patients and family members should be well-educated to the extent that they wish on the genetics underpinning this disease. Once again, this is best achieved in a multidisciplinary setting. 

In their study on the multidisciplinary management of Alagille syndrome, Menon et al concluded, “ALGS is a multi-system disorder requiring a multidisciplinary team of pediatric and adult subspecialists to effectively manage and ensure long-term survival along with a good [quality of life] in these fragile patients.” 


Turnpenny PD, Ellard S. Alagille syndrome: pathogenesis, diagnosis and management. Eur J Hum Genet. 2012;20(3):251-7. doi:10.1038/ejhg.2011.181

Menon J, Shanmugam N, Vij M, Rammohan A, Rela M. Multidisciplinary management of Alagille syndrome. J Multidiscip Healthc. 2022;15:353-364. doi:10.2147/JMDH.S295441