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Diagnosis and management of bronchiectasis

Author/s: 
Maeve P. Smith

Bronchiectasis is a chronic, debilitating respiratory condition that affects people of all ages. It is most prevalent in women and those older than 60 years, and prevalence is increasing. Patients have daily excessive sputum and associated symptoms, recurrent chest infections and impaired health-related quality of life. In North America, management guidelines are lacking. This review discusses best evidence to guide the long-term management of non–cystic fibrosis bronchiectasis in adults, focusing on the two most common single-entity types of bronchiectasis in adults: idiopathic and postinfectious bronchiectasis (Box 1). Table 1 lists all the types of bronchiectasis by cause.

Keywords 
Bronchiectasis sputum diagnosis management fibrosis

Acute Abdomen in the Modern Era

Author/s: 
Selwyn O Rogers Jr, Orlando C Kirton

Acute abdominal pain is one of the most common symptoms in patients presenting to the emergency department and accounts for 5 to 10% of all emergency department visits. Pathophysiological conditions that lead to surgical interventions in such patients are mainly gastrointestinal obstruction, hemorrhage, ischemia, and viscus perforation. Acute abdominal pain can be diffuse or localized (i.e., quadrant-based epigastric pain or pain in the right upper quadrant, left upper quadrant, right lower quadrant, or left lower quadrant)2,4,6 and is associated with but not limited to the following disease processes: perforated viscus, peptic ulcer disease, mesenteric ischemia, acute cholecystitis, appendicitis, diverticulitis, pancreatitis, and intraabdominal hemorrhage. The need for emergency general surgery is an independent risk factor for postoperative complications and death, indicating the severity of the condition. Therefore, timely diagnosis of acute abdominal emergencies is essential. From antiquity to modern times, medical students have been taught that the history and the physical examination are the central components in the evaluation of acute abdominal pain.

Keywords 
Abdomen acute abdomen diagnosis abdominal pain

Diagnosis and management of polycystic ovarian syndrome

Author/s: 
Ebernella Shirin Dason, Olexandra Koshkina, Crystal Chan, Mara Sobel

KEY POINTS

Polycystic ovarian syndrome (PCOS) is a chronic disorder associated with infertility; miscarriage; adverse pregnancy outcomes; and cardiovascular, metabolic, psychological and neoplastic risks.

DIagnosis of PCOS can be made based on the presence of any 2 of menstrual irregularities, clinical or biochemical hyperandrogenism or polycystic ovarian morphology on transvaginal ultrasonography.

Treatment of PCOS may target anovulation, androgen excess, hyperinsulinemia and weight management.

Patients with PCOS should have regular monitoring of their body mass index, blood pressure and metabolic parameters, and should be regularly screened for depression, anxiety and obstructive sleep apnea.

Keywords 
diagnosis diagnostic polycystic ovarian syndrome PCOS menstruation

Diagnosis and management of patients with polyneuropathy

Author/s: 
Mirian, A., Aljohani, Z., Grushka, D., Florendo-Cumbermack, A.

Polyneuropathy is a common neurologic condition with an overall prevalence in the general population of about 1%–3%, increasing to roughly 7% among people older than 65 years. Polyneuropathy has many causes, and can present in many different ways; thus, it requires a logical clinical approach for evaluation, diagnosis and management. We review the approach to evaluating a patient with polyneuropathy by highlighting important aspects of the history and neurologic examination. We focus on the role of diagnostic investigations for distal symmetric polyneuropathy (DSP), the most common subtype, and an approach to the symptomatic treatment of painful diabetic polyneuropathy (PDN). We draw on practice based guidelines, meta-analyses and systematic reviews, where
possible, as they represent the highest levels of evidence (Box 1).

Keywords 
polyneuropathy diagnosis Pain treatment therapy

Parkinson disease primer, part 1: diagnosis

Author/s: 
Frank, C., Chiu, R., Lee, J.

Objective To provide family physicians an updated approach to the diagnosis of Parkinson disease (PD).

Sources of information Published guidelines on the diagnosis and management of PD were reviewed. Database searches were conducted to retrieve relevant research articles published between 2011 and 2021. Evidence levels ranged from I to III.

Main message Diagnosis of PD is predominantly clinical. Family physicians should evaluate patients for specific features of parkinsonism, then determine whether symptoms are attributable to PD. Levodopa trials can be used to help confirm the diagnosis and alleviate motor symptoms of PD. “Red flag” features and absence of response to levodopa may point to other causes of parkinsonism and prompt more urgent referral.

Conclusion Access to neurologists and specialized clinics varies, and Canadian family physicians can be important players in facilitating early and accurate diagnosis of PD. Applying an organized approach to diagnosis and considering motor and nonmotor symptoms can greatly benefit patients with PD. Part 2 in this series will review management of PD.

Parkinson disease (PD) is the fastest growing neurodegenerative condition, with prevalence predicted to double from more than 6 million globally in 2015 to more than 12 million by 2040.1 Recognizing parkinsonism and having knowledge of the presentation, diagnosis, and management of motor and nonmotor symptoms of PD are increasingly important, particularly as access to neurologists and specialized clinics is limited in many parts of Canada.2 Family physicians are well placed to identify symptoms, participate in diagnosis, and collaborate with specialty clinics in management of patients through the course of the disease.

Keywords 
Levodopa Parkinson's Disease diagnosis Parkinson Humans

A Review on Lumps, Bumps, and Birthmarks: When and Why to Refer

Author/s: 
Brown, K. W., Lucas, E., Hoppe, I. C., Humphries, L. S.

Skin lesions of the face, trunk, and extremities are commonly seen in the pediatric population. Although most of these lesions are benign, they can be locally destructive or interfere with normal development. Recognition and diagnosis of these lesions allow for timely workup and referral; treatment, if needed; and facilitation of parental discussions. The purpose of this article is to review common pediatric skin and soft-tissue lesions-or "lumps, bumps, and birthmarks"-to assist with diagnosis, workup, and guidelines for referral to pediatric plastic surgery. [Pediatr Ann. 2023;52(1):e23-e30.].

Keywords 
skin diseases pediatric diagnosis birthmarks assessment

Diagnosis and Management of Hereditary Hemochromatosis

Author/s: 
Cabrera, E., Crespo, G., VanWagner, L.B.

Hereditary hemochromatosis (HH) is a heterogeneous genetic disorder that results in unregulated and excessive intestinal iron absorption leading to overabundance of iron deposition in tissue. HH is most common in people of northern European ancestry, for whom the prevalence is 1 case per 300 people.1-3

Keywords 
Hemochromatosis Protein diagnosis Hereditary hemochromatosis management diagnosis and management

A “no-biopsy” approach to diagnosing celiac disease

Author/s: 
Mott, T., Gray, C., Storey, J.

PRACTICE CHANGER
CONSIDER A “NO-BIOPSY” APPROACH BY EVALUATING SERUM IMMUNOGLOBULIN (IG) A ANTI-TISSUE TRANSGLUTAMINASE (TTG-IGA) ANTIBODY TITERS IN ADULT PATIENTS WHO PRESENT WITH SYMPTOMS CONCERNING FOR CELIAC DISEASE (CD). AN INCREASE OF ≥ 10 TIMES THE UPPER LIMIT OF NORMAL (ULN) FOR TTG-IGA HAS A POSITIVE PREDICTIVE VALUE (PPV) OF ≥ 95% FOR DIAGNOSING CD WHEN COMPARED WITH ESOPHAGOGASTRODUODENOSCOPY (EGD) WITH DUODENAL BIOPSY—THE CURRENT GOLD STANDARD.

Keywords 
celiac disease Gastroenterology diagnosis Predictive Value of Tests Alternative Approach

Chronic anal pain: A review of causes, diagnosis, and treatment

Author/s: 
Knowles, C. H., Cohen, R. C.

Chronic anal pain is diffi cult to diagnose and treat, especially with no obvious anorectal cause apparent on clinical examination. This review identifi es 3 main diagnostic
categories for chronic anal pain: local causes, functional
anorectal pain, and neuropathic pain syndromes. Conditions covered within these categories include proctalgia
fugax, levator ani syndrome, pudendal neuralgia, and coccygodynia. The signs, symptoms, relevant diagnostic tests,
and main treatments for each condition are reviewed.

Keywords 
Anal Pain Causes diagnosis treatment chronic pain

Diagnosis and Treatment of Pulmonary Arterial Hypertension: A Review

Author/s: 
Ruopp, N. F., Cockrill, B. A.

Importance: Pulmonary arterial hypertension (PAH) is a subtype of pulmonary hypertension (PH), characterized by pulmonary arterial remodeling. The prevalence of PAH is approximately 10.6 cases per 1 million adults in the US. Untreated, PAH progresses to right heart failure and death.

Observations: Pulmonary hypertension is defined by a mean pulmonary artery pressure greater than 20 mm Hg and is classified into 5 clinical groups based on etiology, pathophysiology, and treatment. Pulmonary arterial hypertension is 1 of the 5 groups of PH and is hemodynamically defined by right heart catheterization demonstrating a mean pulmonary artery pressure greater than 20 mm Hg, a pulmonary artery wedge pressure of 15 mm Hg or lower, and a pulmonary vascular resistance of 3 Wood units or greater. Pulmonary arterial hypertension is further divided into subgroups based on underlying etiology, consisting of idiopathic PAH, heritable PAH, drug- and toxin-associated PAH, pulmonary veno-occlusive disease, PAH in long-term responders to calcium channel blockers, and persistent PH of the newborn, as well as PAH associated with other medical conditions including connective tissue disease, HIV, and congenital heart disease. Early presenting symptoms are nonspecific and typically consist of dyspnea on exertion and fatigue. Currently approved therapy for PAH consists of drugs that enhance the nitric oxide-cyclic guanosine monophosphate biological pathway (sildenafil, tadalafil, or riociguat), prostacyclin pathway agonists (epoprostenol or treprostinil), and endothelin pathway antagonists (bosentan and ambrisentan). With these PAH-specific therapies, 5-year survival has improved from 34% in 1991 to more than 60% in 2015. Current treatment consists of combination drug therapy that targets more than 1 biological pathway, such as the nitric oxide-cyclic guanosine monophosphate and endothelin pathways (eg, ambrisentan and tadalafil), and has shown demonstrable improvement in morbidity and mortality compared with the previous conventional single-pathway targeted monotherapy.

Conclusions and relevance: Pulmonary arterial hypertension affects an estimated 10.6 per 1 million adults in the US and, without treatment, typically progresses to right heart failure and death. First-line therapy with drug combinations that target multiple biological pathways are associated with improved survival.

Keywords 
Pulmonary Arterial Hypertension diagnosis treatment PAH PH
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