Free Primary Care CME

Activity Description / Statement of Need:

In this online, self-learning activity:

Thymidine kinase 2 deficiency (TK2D) is an ultrarare mitochondrial disease caused by recessive mutations in the TK2 gene and manifesting as a form of mitochondrial DNA depletion/deletion syndrome (MDDS) and mitochondrial myopathy. Under normal conditions, the TK2 gene encodes for the thymidine kinase enzyme present in the mitochondria, which is responsible for the phosphorylating of pyrimidine nucleosides, deoxythymidine, and deoxycytidine. These are the first steps in mitochondrial DNA synthesis, and researchers speculate that TK2 mutations affect muscle tissue because its higher energy demands make it most susceptible to mitochondrial impairment. Mutational analyses of patients with MDDS have found that approximately 15% have TK2 mutations, which may be extrapolated to about 600 to 2,700 individuals in the US.

Target Audience:

HCPs including but not limited to: neurologists, pediatric neurologists, pediatricians, primary care providers, pulmonologists, gastroenterologists, and medical geneticists; physician assistants, nurse practitioners, pharmacists, and nurses who practice in the aforementioned areas of specialty; and any other HCPs with an interest in or who may clinically encounter patients with TK2D.

Acromegaly is an endocrine disorder characterized by dysregulated hypersecretion of growth hormone (GH), usually caused by a GH-secreting, pituitary adenoma and leading to an overproduction of insulin-like growth factor 1 (IGF-1). Estimated to have a prevalence of 2.8 to 13.7 cases per 100,000, acromegaly is not as common as other endocrine disorders. However, its incidence is increasing, and it has a significant impact on patient quality of life, with clinical features that include: acral enlargement; facial feature and oral changes; headache; significant fatigue, including daytime sleepiness; hyperhidrosis; oily and thicker skin; weight gain; and arthralgia. Approximately 25 percent of people with acromegaly have elevated blood pressure, and 50 percent have evidence of insulin resistance, putting them at risk of developing type 2 diabetes in future. The mortality rates of acromegaly patients are three times higher than the general population, with most dying from respiratory or cardiac complications.

In this online, self-learning activity:

Pulmonary hypertension (PH) comprises five etiologic groups; Group I, pulmonary arterial hypertension (PAH), is a precapillary entity defined hemodynamically by right‑heart catheterization: mean pulmonary artery pressure >20 mm Hg, pulmonary artery wedge pressure ≤15 mm Hg, and pulmonary vascular resistance ≥3 Wood units. PAH is uncommon but consequential; estimates place U.S. prevalence near 10.6 per million, with contemporary data showing rarity yet meaningful population burden. Sex differences are notable—women predominate, while men may experience more severe trajectories—underscoring the need for sex‑aware assessment. Multinational reviews suggest incidence and prevalence remain non‑trivial, with enduring morbidity and mortality despite therapeutic gains.