[Guidelines for the diagnosis and treatment of hereditary angioedema]. / Smjernice za dijagnostiku i lijecenje hereditarnog angioedema.

Hereditary angioedema (HAE) is a rare but potentially fatal genetic disorder with nonpitting, nonerythematous, and not pruritic swelling which can affect the hands, feet, face, genitals and visceral mucosa. The type, frequency, and severity of the attacks vary between patients, and over the lifetime of an individual patient. Efforts in Croatian counties have identified approximately 100 patients (but there must be more undiagnosed patients). The first global guideline for the management of HAE was developed by the World Allergy Organization HAE International Alliance and published in 2012. Based on that document the Working group of Croatian experts was assigned to propose guideline for HAE management in Croatia. HAE is is most often related to decreased or dysfunctional C1 inh with autoactivation of C1 and bradykinin accumulation leading to localized dilatation and increased permeability of blood vessels resulting in tissue swelling. A diagnosis of HAE can be confirmed by measuring complement and C1 inh quantitative and functional levels.Three HAE types could be differentiated: HAE type 1 (C1 inh level is low), HAE type 2 (C1 inh level is normal but dysfunctional), and HAE type 3 (normal level and function of C1 inh). All patients suspected to have HAE-1/2 should be assessed for blood levels of C4, C1 inh protein, and C1 inh function. All attacks that result in debilitation/dysfunction and/or involve the face, the neck, or the abdomen should be considered for on-demand treatment. It is recommended that attacks are treated as early as possible. HAE attacks are treated with C1 inh, ecallantide, or icatibant.If these drugs are not available, attacks should be treated with solvent detergent-treated plasma (SDP). If SDP is not available, then attacks should be treated with frozen plasma.Intubation or tracheotomy should be considered early in progressive upper airway edema. Patients with attacks could receive adjuvant therapy when indicated (pain management, intravenous fluids). All patients should have on-demand treatment for two attacks and carry their on-demand treatment at all times. The administration of short-term prophylaxis should be considered before surgeries (dental/intraoral surgery, where endotracheal intubation is required), where upper airway or pharynx is manipulated, and before bronchoscopy or endoscopy. Long-term prophylaxis should be considered in all severely symptomatic HAE-1/2 patients. C1 inh concentrate or androgens can be used. Screening children for HAE-1/2 should be deferred until the age of 12 months, and all offspring of an affected parent should be tested.

A Case of Unilateral Otologic Symptoms as Initial Manifestations of Granulomatosis With Polyangiitis.

Granulomatosis with polyangiitis (GPA) is a chronic and systematic autoimmune condition characterized by granuloma formation and necrotizing vasculitis of small to medium-sized vessels. GPA initially presents itself as respiratory and renal symptoms. Although temporal bone involvement is not uncommon, an otologic disorder is rarely the initial symptom. We present a case of a 36-year-old man who presented with unilateral ear pain, hearing loss, and facial palsy. After a series of diagnostics and temporal bone and chest imaging, he was diagnosed with GPA with multiorgan involvement. Cyclophosphamide and methylprednisolone relieved the patient's ear pain and partially improved his hearing, facial palsy, and overall clinical condition. Although uncommon, systemic GPA may cause initial otologic symptoms and should not be dismissed as a possible cause of an otologic disease resistant to standard therapy.

A battery in the stenotic esophagus of a child with a congenital tracheoesophageal fistula.

A case of a three-year-old male child who was admitted to our hospital with the suspicion that he had swallowed a battery approximately one hour before admittance. The parents believed that it was a button-shaped lithium battery approximately 12 mm in diameter. A chest X-ray was taken immediately, and a battery was identified in the esophagus at the fifth thoracic vertebra. By reviewing the child's medical history, we found that the child had had surgery the day after birth due to congenital atresia of the esophagus and a tracheoesophageal fistula type III b. An esophagoscopy was performed one hour after admittance, and the battery was found to be partially past the scar from the first surgery. Because of that, the battery was pushed further toward the stomach, out of fear that retrieving the battery through the scarred section of the child's esophagus could damage the stenotic wall. Upon the next X-ray of the abdomen, the battery was observed in the stomach. The child was monitored, and X-rays were taken over the next several days. The battery was evacuated in stool eight days after it had been ingested.

Vestibular neuronitis in a vestibular schwannoma patient.

This is a unique presentation of an acute vestibular syndrome (AVS) caused by vestibular neuronitis (VN) of a vestibular nerve (CNVIII) already affected by vestibular schwannoma (VS). A 48-year-old patient, formerly diagnosed with an intracanalicular VS, presented with AVS. The patient underwent clinical and neurotological examination including video Head Impulse Test and a 4-hour delayed-enhanced 3D-FLAIR MRI using intravenous gadolinium. Clinical and neurotological findings were consistent with VN of the CNVIII formerly diagnosed with VS. A 4-hour delayed-enhanced 3D-FLAIR MRI showed significant enhancement of the labyrinth also indicating VN of the same nerve affected by VS. Pragmatic corticosteroid therapy and vestibular exercises were applied resulting in satisfactory recovery of the patient. As vestibular symptoms are common in VS patients, investigating another cause of dizziness and vertigo in VS patients can be marginalized. Nevertheless, VS presenting as AVS is very unusual. VN should not be overlooked as a possible cause of acute vertigo in a patient previously diagnosed with VS.