Summary about Disease
Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) is a very rare syndrome characterized by rapid weight gain, usually in childhood, along with problems with the hypothalamus (a brain region controlling many bodily functions), impaired breathing, and dysfunction of the autonomic nervous system.
Symptoms
Rapid weight gain or obesity
Hypothalamic dysfunction:
Diabetes insipidus (excessive thirst and urination)
Altered temperature regulation
Abnormal sleep patterns
Growth hormone deficiency
Early puberty
Hypoventilation (shallow or slow breathing) often requiring ventilatory support
Autonomic dysregulation:
Heart rate and blood pressure irregularities
Sweating abnormalities
Gastrointestinal issues (constipation, diarrhea)
Behavioral or psychiatric changes
Pupillary abnormalities (e.g., unequal pupil size)
Central alveolar hypoventilation (CAH)
Causes
The cause of ROHHAD syndrome is currently unknown. Genetic factors and autoimmune processes are being investigated, but no specific gene or cause has been definitively identified. It is considered a diagnosis of exclusion.
Medicine Used
Treatment is symptomatic and supportive. There is no cure. Medications may include:
Hormone replacement therapy (e.g., growth hormone, thyroid hormone) to address hormonal deficiencies.
Medications to manage diabetes insipidus (e.g., desmopressin).
Medications to manage autonomic dysfunction (e.g., beta-blockers for heart rate control).
Ventilatory support (e.g., BiPAP, CPAP, tracheostomy) for hypoventilation.
Psychiatric medications to manage behavioral or psychiatric symptoms.
Medications to help with diabetes.
Is Communicable
ROHHAD syndrome is NOT communicable or contagious. It is not an infectious disease and cannot be spread from person to person.
Precautions
Since the cause is unknown and the syndrome is not communicable, general precautions focus on managing the symptoms and providing supportive care. These may include:
Regular monitoring of weight, breathing, and vital signs.
Adherence to prescribed medications.
Creating a safe environment to prevent complications related to autonomic dysfunction.
Psychological support for the patient and family.
Strict adherence to respiratory support plans.
How long does an outbreak last?
ROHHAD syndrome is not an outbreak-related illness. It's a chronic condition. There is no "outbreak" period. The symptoms are generally progressive and require ongoing management.
Timeline of Symptoms
The timeline of symptoms is variable, but generally:
Rapid weight gain is often the first noticeable symptom, typically occurring between ages 2 and 10.
Hypothalamic dysfunction symptoms may emerge around the same time or shortly after the weight gain.
Hypoventilation may develop gradually or suddenly, potentially becoming life-threatening.
Autonomic dysfunction symptoms can be variable in onset and severity.
Psychiatric and behavioral symptoms can occur.
Important Considerations
ROHHAD syndrome is extremely rare, making diagnosis challenging.
Early diagnosis and intervention are crucial to manage symptoms and prevent life-threatening complications, especially respiratory failure.
Multidisciplinary care is essential, involving specialists in endocrinology, pulmonology, neurology, cardiology, and psychology.
Prognosis is variable and often guarded, with significant morbidity and mortality associated with respiratory failure and autonomic dysfunction.
Research is ongoing to understand the underlying cause and develop more effective treatments.
Distinguishing ROHHAD from ROHHAD-NET is critical. ROHHAD-NET involves neuroendocrine tumors, which ROHHAD does not.