This accredited continuing education program is supported by an educational grant from Blueprint Medicine. 

It provides timely and practical education on systemic mastocytosis (SM). To obtain CME credit, visit https://checkrare.com/learning/p-systemic-mastocytosis-recognition-diagnosis-and-clinical-management/

SM is a rare, chronic disorder driven by aberrant mast cell accumulation across multiple organ systems. Although diagnostic criteria are well established, a recent natural history study found that the average time to diagnosis is nearly five years. This prolonged delay—largely due to limited awareness of SM and its early symptoms—often results in unnecessary disease progression and inappropriate treatment. To address this clinical gap, this activity, led by Daniel J. DeAngelo, MD, PhD, Chief, Division of Leukemia at the Dana-Farber Cancer Institute, Harvard Medical School, in Boston, MA, provides an overview of the early signs and symptoms of SM, outlines the appropriate diagnostic criteria and tools, and reinforces the importance of timely referral and testing for these patients to be properly managed. 

Led by a clinical expert with experience diagnosing and treating patients with SM, this 45-minute CME program will highlight early signs of SM, outline diagnostic criteria and tools, and reinforce the importance of timely referral/testing. 

Target Audience
This activity has been designed to meet the educational needs of physicians specializing in hematology, dermatology, gastroenterology, immunology, and family practice. Other members of the care team may also participate.

Learning Objectives
After participating in the activity, learners should be better able to:
Describe the early symptoms of systemic mastocytosis and its clinical relevance.
Apply best practices to diagnose systemic mastocytosis more efficiently.

Faculty
Daniel J. DeAngelo, MD, PhD
Chief, Division of Leukemia
Dana-Farber Cancer Institute,
Harvard Medical School
Boston, MA

Disclosure Statement
According to the disclosure policy of the Academy, all faculty, planning committee members, editors, managers and other individuals who are in a position to control content are required to disclose any relationships with any ineligible company(ies). The existence of these relationships is not viewed as implying bias or decreasing the value of the activity. Clinical content has been reviewed for fair balance and scientific objectivity, and all of the relevant financial relationships listed for these individuals have been mitigated.

Disclosure of relevant financial relationships are as follows:

Faculty Educator/Planner
Dr. DeAngelo discloses the following relevant financial relationships with ineligible companies:
Consultant: Amgen, Autolos, Blueprint Medicines, Incyte, Jazz, Novartis, Pfizer, and Takeda 
Research Support: AbbVie, Glycomimetics, Novartis, and Blueprint Medicines
Data Safety Monitoring Board: Daiichi-Sankyo

Other Planners for this activity have no relevant financial relationships with any ineligible companies.

This activity will review off-label or investigational information.

The opinions expressed in this educational activity are those of the faculty, and do not represent those of the Academy or CheckRare CE. This activity is intended as a supplement to existing knowledge, published information, and practice guidelines. Learners should appraise the information presented critically, and draw conclusions only after careful consideration of all available scientific information.
Accreditation and Credit Designation

In support of improving patient care, this activity has been planned and implemented by American Academy of CME, Inc. and CheckRare CE. American Academy of CME, Inc. is Jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.

Physicians
American Academy of CME, Inc., designates this enduring material for a maximum of 0.75 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity. 

Other HCPs
Other members of the care team will receive a certificate of participation.
There are no fees to participate in the activity.  Participants must review the activity information including the learning objectives and disclosure statements, as well as the content of the activity. To receive CME credit for your participation, please complete the pre and post-program assessments. Your certificate will be emailed to you within 30 days.

Privacy
For more information about the American Academy of CME privacy policy, please access http://www.academycme.org/privacy.htm  For more information about CheckRare’s privacy policy, please access https://checkrare.com/privacy/

Contact
For any questions, please contact: [email protected]

Copyright
© 2026...

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The name of the rare disease central diabetes insipidus was changed in 2024 to better reflect its etiology. CheckRare discussed this disorder with Christopher Romero, MD, a pediatric endocrinologist at Mount Sinai Medical Center, New York City, and Associate Professor of Pediatrics at the Icahn School of Medicine at Mount Sinai.

Central diabetes insipidus, a rare disease, is unrelated to the common medical problem diabetes mellitus, other than they are both problems related to endocrinologic dysfunction. Whereas diabetes mellitus involves pancreatic function and the production of the hormone insulin, central diabetes insipidus involves the pituitary gland and regulation of the hormone vasopressin. Dr. Romero stated that a new name for central diabetes insipidus was introduced in 2024—arginine vasopressin deficiency (AVP-D) to reflect the difference and relieve misconceptions caused by the traditional naming.

The central issue with AVP-D is the function of antidiuretic hormone, which regulates water concentrations in the body. Pediatric and adult patients with this vasopressin deficiency (which mediates antidiuretic hormone levels) excrete more urine than patients without the deficiency. “It causes these patients to drink more, to make up for the water loss,” said Dr. Romero, “resulting in kids being thirstier and having to use the bathroom more often.”

As a result, AVP-D can lead to weight loss and loss of appetite, dehydration, and electrolyte abnormalities. He also pointed out that the abnormal cycle of drinking and urination in children interferes with school work and performance.

“Unless you’re aware of [AVP-D], you may miss the diagnosis,” said Dr. Romero. The pituitary gland is involved with so many functions, and symptoms only slowly evolve. Issues with the onset of puberty and growth may hint at the pituitary source of the problem.

Historically, treatment was managed with an oral formulation of vasopressin, which was first available in the 1970s. An intravenous form was available in inpatient settings. A nasal spray formulation was subsequently developed, and is useful particularly with older children. Dr. Romero pointed out, figuring out the correct dosage for an individual pediatric patient is key; every child with AVP-D is different in terms of how much water they lose during the drinking–urination cycle. “Even though the oral form was effective, only two dosages were available. You have to titrate the dose to balance the water loss,” he emphasized.

The introduction of Desmoda in February 2026, an oral solution of desmopressin acetate 0.05 mg/mL, allows for easier titration. The solution may be easier to take than the pills for young children, and caregivers may have a better idea of precisely how much medication the patient is getting. For those reasons, Dr. Romero believes this formulation may be the best option for young pediatric patients with AVP-D.

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The name of the rare disease central diabetes insipidus was changed in 2024 to better reflect its etiology. CheckRare discussed this disorder with Christopher Romero, MD, a pediatric endocrinologist at Mount Sinai Medical Center, New York City, and Associate Professor of Pediatrics at the Icahn School of Medicine at Mount Sinai.

Central diabetes insipidus, a rare disease, is unrelated to the common medical problem diabetes mellitus, other than they are both problems related to endocrinologic dysfunction. Whereas diabetes mellitus involves pancreatic function and the production of the hormone insulin, central diabetes insipidus involves the pituitary gland and regulation of the hormone vasopressin. Dr. Romero stated that a new name for central diabetes insipidus was introduced in 2024—arginine vasopressin deficiency (AVP-D) to reflect the difference and relieve misconceptions caused by the traditional naming.

The central issue with AVP-D is the function of antidiuretic hormone, which regulates water concentrations in the body. Pediatric and adult patients with this vasopressin deficiency (which mediates antidiuretic hormone levels) excrete more urine than patients without the deficiency. “It causes these patients to drink more, to make up for the water loss,” said Dr. Romero, “resulting in kids being thirstier and having to use the bathroom more often.”

As a result, AVP-D can lead to weight loss and loss of appetite, dehydration, and electrolyte abnormalities. He also pointed out that the abnormal cycle of drinking and urination in children interferes with school work and performance.

“Unless you’re aware of [AVP-D], you may miss the diagnosis,” said Dr. Romero. The pituitary gland is involved with so many functions, and symptoms only slowly evolve. Issues with the onset of puberty and growth may hint at the pituitary source of the problem.

Historically, treatment was managed with an oral formulation of vasopressin, which was first available in the 1970s. An intravenous form was available in inpatient settings. A nasal spray formulation was subsequently developed, and is useful particularly with older children. Dr. Romero pointed out, figuring out the correct dosage for an individual pediatric patient is key; every child with AVP-D is different in terms of how much water they lose during the drinking–urination cycle. “Even though the oral form was effective, only two dosages were available. You have to titrate the dose to balance the water loss,” he emphasized.

The introduction of Desmoda in February 2026, an oral solution of desmopressin acetate 0.05 mg/mL, allows for easier titration. The solution may be easier to take than the pills for young children, and caregivers may have a better idea of precisely how much medication the patient is getting. For those reasons, Dr. Romero believes this formulation may be the best option for young pediatric patients with AVP-D.

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The name of the rare disease central diabetes insipidus was changed in 2024 to better reflect its etiology. CheckRare discussed this disorder with Christopher Romero, MD, a pediatric endocrinologist at Mount Sinai Medical Center, New York City, and Associate Professor of Pediatrics at the Icahn School of Medicine at Mount Sinai.

Central diabetes insipidus, a rare disease, is unrelated to the common medical problem diabetes mellitus, other than they are both problems related to endocrinologic dysfunction. Whereas diabetes mellitus involves pancreatic function and the production of the hormone insulin, central diabetes insipidus involves the pituitary gland and regulation of the hormone vasopressin. Dr. Romero stated that a new name for central diabetes insipidus was introduced in 2024—arginine vasopressin deficiency (AVP-D) to reflect the difference and relieve misconceptions caused by the traditional naming.

The central issue with AVP-D is the function of antidiuretic hormone, which regulates water concentrations in the body. Pediatric and adult patients with this vasopressin deficiency (which mediates antidiuretic hormone levels) excrete more urine than patients without the deficiency. “It causes these patients to drink more, to make up for the water loss,” said Dr. Romero, “resulting in kids being thirstier and having to use the bathroom more often.”

As a result, AVP-D can lead to weight loss and loss of appetite, dehydration, and electrolyte abnormalities. He also pointed out that the abnormal cycle of drinking and urination in children interferes with school work and performance.

“Unless you’re aware of [AVP-D], you may miss the diagnosis,” said Dr. Romero. The pituitary gland is involved with so many functions, and symptoms only slowly evolve. Issues with the onset of puberty and growth may hint at the pituitary source of the problem.

Historically, treatment was managed with an oral formulation of vasopressin, which was first available in the 1970s. An intravenous form was available in inpatient settings. A nasal spray formulation was subsequently developed, and is useful particularly with older children. Dr. Romero pointed out, figuring out the correct dosage for an individual pediatric patient is key; every child with AVP-D is different in terms of how much water they lose during the drinking–urination cycle. “Even though the oral form was effective, only two dosages were available. You have to titrate the dose to balance the water loss,” he emphasized.

The introduction of Desmoda in February 2026, an oral solution of desmopressin acetate 0.05 mg/mL, allows for easier titration. The solution may be easier to take than the pills for young children, and caregivers may have a better idea of precisely how much medication the patient is getting. For those reasons, Dr. Romero believes this formulation may be the best option for young pediatric patients with AVP-D.

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The name of the rare disease central diabetes insipidus was changed in 2024 to better reflect its etiology. CheckRare discussed this disorder with Christopher Romero, MD, a pediatric endocrinologist at Mount Sinai Medical Center, New York City, and Associate Professor of Pediatrics at the Icahn School of Medicine at Mount Sinai.

Central diabetes insipidus, a rare disease, is unrelated to the common medical problem diabetes mellitus, other than they are both problems related to endocrinologic dysfunction. Whereas diabetes mellitus involves pancreatic function and the production of the hormone insulin, central diabetes insipidus involves the pituitary gland and regulation of the hormone vasopressin. Dr. Romero stated that a new name for central diabetes insipidus was introduced in 2024—arginine vasopressin deficiency (AVP-D) to reflect the difference and relieve misconceptions caused by the traditional naming.

The central issue with AVP-D is the function of antidiuretic hormone, which regulates water concentrations in the body. Pediatric and adult patients with this vasopressin deficiency (which mediates antidiuretic hormone levels) excrete more urine than patients without the deficiency. “It causes these patients to drink more, to make up for the water loss,” said Dr. Romero, “resulting in kids being thirstier and having to use the bathroom more often.”

As a result, AVP-D can lead to weight loss and loss of appetite, dehydration, and electrolyte abnormalities. He also pointed out that the abnormal cycle of drinking and urination in children interferes with school work and performance.

“Unless you’re aware of [AVP-D], you may miss the diagnosis,” said Dr. Romero. The pituitary gland is involved with so many functions, and symptoms only slowly evolve. Issues with the onset of puberty and growth may hint at the pituitary source of the problem.

Historically, treatment was managed with an oral formulation of vasopressin, which was first available in the 1970s. An intravenous form was available in inpatient settings. A nasal spray formulation was subsequently developed, and is useful particularly with older children. Dr. Romero pointed out, figuring out the correct dosage for an individual pediatric patient is key; every child with AVP-D is different in terms of how much water they lose during the drinking–urination cycle. “Even though the oral form was effective, only two dosages were available. You have to titrate the dose to balance the water loss,” he emphasized.

The introduction of Desmoda in February 2026, an oral solution of desmopressin acetate 0.05 mg/mL, allows for easier titration. The solution may be easier to take than the pills for young children, and caregivers may have a better idea of precisely how much medication the patient is getting. For those reasons, Dr. Romero believes this formulation may be the best option for young pediatric patients with AVP-D.

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The name of the rare disease central diabetes insipidus was changed in 2024 to better reflect its etiology. CheckRare discussed this disorder with Christopher Romero, MD, a pediatric endocrinologist at Mount Sinai Medical Center, New York City, and Associate Professor of Pediatrics at the Icahn School of Medicine at Mount Sinai.

Central diabetes insipidus, a rare disease, is unrelated to the common medical problem diabetes mellitus, other than they are both problems related to endocrinologic dysfunction. Whereas diabetes mellitus involves pancreatic function and the production of the hormone insulin, central diabetes insipidus involves the pituitary gland and regulation of the hormone vasopressin. Dr. Romero stated that a new name for central diabetes insipidus was introduced in 2024—arginine vasopressin deficiency (AVP-D) to reflect the difference and relieve misconceptions caused by the traditional naming.

The central issue with AVP-D is the function of antidiuretic hormone, which regulates water concentrations in the body. Pediatric and adult patients with this vasopressin deficiency (which mediates antidiuretic hormone levels) excrete more urine than patients without the deficiency. “It causes these patients to drink more, to make up for the water loss,” said Dr. Romero, “resulting in kids being thirstier and having to use the bathroom more often.”

As a result, AVP-D can lead to weight loss and loss of appetite, dehydration, and electrolyte abnormalities. He also pointed out that the abnormal cycle of drinking and urination in children interferes with school work and performance.

“Unless you’re aware of [AVP-D], you may miss the diagnosis,” said Dr. Romero. The pituitary gland is involved with so many functions, and symptoms only slowly evolve. Issues with the onset of puberty and growth may hint at the pituitary source of the problem.

Historically, treatment was managed with an oral formulation of vasopressin, which was first available in the 1970s. An intravenous form was available in inpatient settings. A nasal spray formulation was subsequently developed, and is useful particularly with older children. Dr. Romero pointed out, figuring out the correct dosage for an individual pediatric patient is key; every child with AVP-D is different in terms of how much water they lose during the drinking–urination cycle. “Even though the oral form was effective, only two dosages were available. You have to titrate the dose to balance the water loss,” he emphasized.

The introduction of Desmoda in February 2026, an oral solution of desmopressin acetate 0.05 mg/mL, allows for easier titration. The solution may be easier to take than the pills for young children, and caregivers may have a better idea of precisely how much medication the patient is getting. For those reasons, Dr. Romero believes this formulation may be the best option for young pediatric patients with AVP-D.

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The name of the rare disease central diabetes insipidus was changed in 2024 to better reflect its etiology. CheckRare discussed this disorder with Christopher Romero, MD, a pediatric endocrinologist at Mount Sinai Medical Center, New York City, and Associate Professor of Pediatrics at the Icahn School of Medicine at Mount Sinai.

Central diabetes insipidus, a rare disease, is unrelated to the common medical problem diabetes mellitus, other than they are both problems related to endocrinologic dysfunction. Whereas diabetes mellitus involves pancreatic function and the production of the hormone insulin, central diabetes insipidus involves the pituitary gland and regulation of the hormone vasopressin. Dr. Romero stated that a new name for central diabetes insipidus was introduced in 2024—arginine vasopressin deficiency (AVP-D) to reflect the difference and relieve misconceptions caused by the traditional naming.

The central issue with AVP-D is the function of antidiuretic hormone, which regulates water concentrations in the body. Pediatric and adult patients with this vasopressin deficiency (which mediates antidiuretic hormone levels) excrete more urine than patients without the deficiency. “It causes these patients to drink more, to make up for the water loss,” said Dr. Romero, “resulting in kids being thirstier and having to use the bathroom more often.”

As a result, AVP-D can lead to weight loss and loss of appetite, dehydration, and electrolyte abnormalities. He also pointed out that the abnormal cycle of drinking and urination in children interferes with school work and performance.

“Unless you’re aware of [AVP-D], you may miss the diagnosis,” said Dr. Romero. The pituitary gland is involved with so many functions, and symptoms only slowly evolve. Issues with the onset of puberty and growth may hint at the pituitary source of the problem.

Historically, treatment was managed with an oral formulation of vasopressin, which was first available in the 1970s. An intravenous form was available in inpatient settings. A nasal spray formulation was subsequently developed, and is useful particularly with older children. Dr. Romero pointed out, figuring out the correct dosage for an individual pediatric patient is key; every child with AVP-D is different in terms of how much water they lose during the drinking–urination cycle. “Even though the oral form was effective, only two dosages were available. You have to titrate the dose to balance the water loss,” he emphasized.

The introduction of Desmoda in February 2026, an oral solution of desmopressin acetate 0.05 mg/mL, allows for easier titration. The solution may be easier to take than the pills for young children, and caregivers may have a better idea of precisely how much medication the patient is getting. For those reasons, Dr. Romero believes this formulation may be the best option for young pediatric patients with AVP-D.

CHAPTERS
Introduction 00:00
Rationale for Disease Name Change 1:14
AVP Deficiency Overview 2:39
Diagnostic Challenges 4:27
Traditional Management 8:57
Management Advancements 13:27
Improving Patient Outcomes and Quality of Life 16:58

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Emmanuel Mignot, MD, PhD, is one of the pioneers in the study of narcolepsy and served a vital role in discerning the genetic cause of this rare and underdiagnosed disorder. Dr. Mignot, Professor of Sleep Medicine in the Department of Psychiatry and Behavioral Sciences, Stanford University, recently shared his thoughts on his work with CheckRare.

Dr. Mignot, who earned his medical degree with a specialty in psychiatry in Paris, moved to the US at age 27, intending to teach pharmacology after earning his PhD. As part of his work, he studied the pharmacodynamics of modafinil in dogs with narcolepsy. The experience changed his professional focus.

Working with this animal model, his research sought to identify a genetic cause of narcolepsy type 1, and was successful in isolating it in 1999. The gene was responsible for regulating orexin, a hormone that also regulates appetite. “[The discovery] and the publication in the journal Cell put narcolepsy on the map. It was not the orexin receptors that was the problem, it was the ligands attaching to orexin. We developed a test for it, which really helped pinpoint the diagnosis,” said Dr. Mignot.

Diagnosing narcolepsy is really a two-pronged problem, he commented. First, the patient doesn’t reveal all of the symptoms and signs (as they tend to normalize them) and second, the physicians have difficulty pinpointing the diagnosis. “In many cases, the patients get used to their cataplexy episodes or don’t want to admit having them,” commented Dr. Mignot, so they don’t bring them up to the doctor. On the other hand, the primary care physicians rarely see patients with narcolepsy type 1, and they fail to question patients about cataplexy episodes. In addition, the patient can mistakenly be diagnosed as having seizures or other unrelated disorders. For young patients, “this is a tragedy,” he said, “because it so negatively affects their childhood and their education.”

In the past, patients with narcolepsy type 1 were treated with antidepressants and stimulants, before sodium oxybate was introduced. Current pharmacotherapy is still largely focused on symptomatic treatment, but the investigational orexin-2 agonists may be truly disease modifying. Clinical studies with these agents show “how much improved their condition is, over the medications. With this medication, [study patients] feel kind of normal,” stated Dr. Mignot.

Many important questions remain to be answered, such as how to cure the condition or at least prevent it. There is evidence that there is an immune response that triggers the attack on orexin-producing neurons. Dr. Mignot stated, “We have evidence that it is triggered by the flu,” and if we understood the mechanism of this autoimmune attack, we might be able to modify flu vaccines in the preventive effort.

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Emmanuel Mignot, MD, PhD, is one of the pioneers in the study of narcolepsy and served a vital role in discerning the genetic cause of this rare and underdiagnosed disorder. Dr. Mignot, Professor of Sleep Medicine in the Department of Psychiatry and Behavioral Sciences, Stanford University, recently shared his thoughts on his work with CheckRare.

Dr. Mignot, who earned his medical degree with a specialty in psychiatry in Paris, moved to the US at age 27, intending to teach pharmacology after earning his PhD. As part of his work, he studied the pharmacodynamics of modafinil in dogs with narcolepsy. The experience changed his professional focus.

Working with this animal model, his research sought to identify a genetic cause of narcolepsy type 1, and was successful in isolating it in 1999. The gene was responsible for regulating orexin, a hormone that also regulates appetite. “[The discovery] and the publication in the journal Cell put narcolepsy on the map. It was not the orexin receptors that was the problem, it was the ligands attaching to orexin. We developed a test for it, which really helped pinpoint the diagnosis,” said Dr. Mignot.

Diagnosing narcolepsy is really a two-pronged problem, he commented. First, the patient doesn’t reveal all of the symptoms and signs (as they tend to normalize them) and second, the physicians have difficulty pinpointing the diagnosis. “In many cases, the patients get used to their cataplexy episodes or don’t want to admit having them,” commented Dr. Mignot, so they don’t bring them up to the doctor. On the other hand, the primary care physicians rarely see patients with narcolepsy type 1, and they fail to question patients about cataplexy episodes. In addition, the patient can mistakenly be diagnosed as having seizures or other unrelated disorders. For young patients, “this is a tragedy,” he said, “because it so negatively affects their childhood and their education.”

In the past, patients with narcolepsy type 1 were treated with antidepressants and stimulants, before sodium oxybate was introduced. Current pharmacotherapy is still largely focused on symptomatic treatment, but the investigational orexin-2 agonists may be truly disease modifying. Clinical studies with these agents show “how much improved their condition is, over the medications. With this medication, [study patients] feel kind of normal,” stated Dr. Mignot.

Many important questions remain to be answered, such as how to cure the condition or at least prevent it. There is evidence that there is an immune response that triggers the attack on orexin-producing neurons. Dr. Mignot stated, “We have evidence that it is triggered by the flu,” and if we understood the mechanism of this autoimmune attack, we might be able to modify flu vaccines in the preventive effort.

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