Colorado Care Network

5. Treatable rare disease in adult primary care

Clinicians with complex patients; providers of specialized services Planned episode, outlier patients in primary care. The amyloidoses, lysosomal and metabolic diseases that present to adults, where a diagnosis changes treatment.

Listener title: Treatable rare disease in adult primary care

Listener description: A specialist in treatable monogenic disease and the host compare the red flags they watch for in the amyloidoses and the lysosomal and metabolic diseases that present in adults, where a diagnosis changes treatment. The conversation covers how a cash-pay patient reaches therapy once diagnosed and how primary care shares care with a specialty center. For primary care clinicians and for providers who offer specialized diagnostic or treatment services.

Run of show (about 40 minutes)

Time Segment What happens
0:00 to 2:00 Opening The host introduces the topic and the guest's role. The guest states any industry relationships, including any with manufacturers of the therapies discussed. The host notes that no patient information is discussed and that the guest speaks for themselves, not for the network.
2:00 to 6:00 The guest's practice The guest describes which conditions they see and how adults usually reach them: from primary care, from cardiology or neurology, or after years elsewhere.
6:00 to 18:00 Red flags Which red flags does each of you watch for? The host and guest each name theirs, by group. Amyloidosis: the host reads the finding the CCN transthyretin amyloidosis page cites from Sperry 2018, that 10% of patients having carpal tunnel release had amyloid in the tenosynovium, and the guest explains the nonbiopsy diagnostic pathway (Gillmore 2016) and what primary care can order. Lysosomal: the guest explains which presentations prompt testing, with reference to screening for Pompe disease in adults with hyperCKemia or limb-girdle weakness (Lukacs 2016) and for Fabry disease in high-risk clinics (Doheny 2018). Metabolic: the guest explains how urea cycle disorders present in adults (Toquet 2021).
18:00 to 26:00 From diagnosis to therapy How does a cash-pay patient get access to the therapy once diagnosed? The guest explains who prescribes, how specialty pharmacy or infusion is arranged, whether manufacturer or foundation programs play a part, and what to tell the patient about coverage. The host asks the guest to describe, for one condition they treat, how the diagnosis changed treatment; the ATTR cardiomyopathy trial the site cites (Maurer 2018) is in the show notes. Prices are discussed as method only.
26:00 to 33:00 Sharing care with a specialty center How do you share care with a specialty center? The guest explains who holds the monitoring calendar, who draws labs between visits, and who arranges cascade testing of relatives. The host reads the finding the lysosomal storage page cites from Doheny 2018, benign variants in 47.9% of the men and 74.1% of the women originally reported with a GLA variant, and asks who is responsible for checking a variant against current classification.
33:00 to 37:00 Composite scenario, not a real patient A patient with carpal tunnel surgery on both sides in the past, new breathlessness on exertion, and a thick left ventricle on echocardiogram read as hypertensive heart disease, though blood pressure has been normal. The host and guest talk through the first tests, the referral question, and what to say about relatives.
37:00 to 40:00 Closing Takeaway, from the transthyretin amyloidosis care map (Gillmore 2016): when ATTR is possible, order bone scintigraphy together with serum and urine immunofixation and free light chains, so the scan can be read. The treatable monogenic disease cohorts (lysosomal storage, hypophosphatasia, transthyretin amyloidosis, inherited metabolic) each have a page under coloradocarenetwork.com/cohorts/ and a Slack channel. Listeners reach the network at coloradocarenetwork.com/join/ or hello@coloradocarenetwork.com.

Guest prep questions (sent to the guest a week ahead)

  1. Which adult presentations in primary care should prompt a test or a referral for the conditions you treat? Please name your main red flags for each group: amyloidoses, lysosomal diseases, metabolic diseases.
  2. What first-line tests can primary care order before referral, and what should come with the referral?
  3. Once a cash-pay patient is diagnosed, what are the practical steps to therapy: prescribing, specialty pharmacy or infusion, and the coverage conversation? If prices come up, please keep to method.
  4. How do you divide care with primary care after diagnosis: monitoring, labs between visits, cascade testing of relatives, and rechecking variant classification?
  5. Please list any industry relationships for disclosure at the start of the episode, and send the sources you plan to cite (PubMed, DOI, GeneReviews or guideline) before recording.

Show notes

A specialist in treatable monogenic disease and the host compare red flags for the amyloidoses and the lysosomal and metabolic diseases that present in adults, where a diagnosis changes treatment. The conversation covers what primary care can order before referral, how a cash-pay patient reaches therapy, and how care is divided with a specialty center. A composite scenario, not a real patient, walks through a possible case of transthyretin amyloidosis. The episode draws on the CCN care maps for transthyretin amyloidosis, lysosomal storage disorders and inherited metabolic disease.

  • Sources:
  • Sperry BW, Reyes BA, Ikram A, et al. Tenosynovial and cardiac amyloidosis in patients undergoing carpal tunnel release. J Am Coll Cardiol. 2018;72(17):2040-2050. doi:10.1016/j.jacc.2018.07.092
  • Gillmore JD, Maurer MS, Falk RH, et al. Nonbiopsy diagnosis of cardiac transthyretin amyloidosis. Circulation. 2016;133(24):2404-2412. doi:10.1161/CIRCULATIONAHA.116.021612
  • Maurer MS, Schwartz JH, Gundapaneni B, et al. Tafamidis treatment for patients with transthyretin amyloid cardiomyopathy. N Engl J Med. 2018;379(11):1007-1016. doi:10.1056/NEJMoa1805689
  • Lukacs Z, Nieves Cobos P, Wenninger S, et al. Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness. Neurology. 2016;87(3):295-298. doi:10.1212/WNL.0000000000002758
  • Doheny D, Srinivasan R, Pagant S, et al. Fabry disease: prevalence of affected males and heterozygotes with pathogenic GLA mutations identified by screening renal, cardiac and stroke clinics, 1995-2017. J Med Genet. 2018;55(4):261-268. doi:10.1136/jmedgenet-2017-105080
  • Toquet S, Spodenkiewicz M, Douillard C, et al. Adult-onset diagnosis of urea cycle disorders: results of a French cohort of 71 patients. J Inherit Metab Dis. 2021;44(5):1199-1214. doi:10.1002/jimd.12403
  • No patient information is discussed on this episode.

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Colorado Care Network. 5. Treatable rare disease in adult primary care. Version 2026-10-30.